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Letteratura scientifica selezionata sul tema "Risk variants"

Autore: Grafiati

Pubblicato: 21 dicembre 2024

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Articoli di riviste sul tema "Risk variants"

Han, Shengtong. "Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes". Journal of Personalized Medicine 14, n. 8 (2 agosto 2024): 822. http://dx.doi.org/10.3390/jpm14080822.

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The genetics of schizophrenia is so complex that it involves both common variants and rare variants. Rare variant association studies of schizophrenia are challenging because statistical methods for rare variant analysis are under-powered due to the rarity of rare variants. The recent Schizophrenia Exome meta-analysis (SCHEMA) consortium, the largest consortium in this field to date, has successfully identified 10 schizophrenia risk genes from ultra-rare variants by burden test, while more risk genes remain to be discovered by more powerful rare variant association test methods. In this study, we use a recently developed Bayesian rare variant association method that is powerful for detecting sparse rare risk variants that implicates 88 new candidate risk genes associated with schizophrenia from the SCHEMA case–control sample. These newly identified genes are significantly enriched in autism risk genes and GO enrichment analysis indicates that new candidate risk genes are involved in mechanosensory behavior, regulation of cell size, neuron projection morphogenesis, and plasma-membrane-bounded cell projection morphogenesis, that may provide new insights on the etiology of schizophrenia.

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Shah, Shrijal S., Herbert Lannon, Leny Dias, Jia-Yue Zhang, Seth L. Alper, Martin R. Pollak e David J. Friedman. "APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore". Journal of the American Society of Nephrology 30, n. 12 (26 settembre 2019): 2355–68. http://dx.doi.org/10.1681/asn.2019020114.

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BackgroundGenetic Variants in Apolipoprotein L1 (APOL1) are associated with large increases in CKD rates among African Americans. Experiments in cell and mouse models suggest that these risk-related polymorphisms are toxic gain-of-function variants that cause kidney dysfunction, following a recessive mode of inheritance. Recent data in trypanosomes and in human cells indicate that such variants may cause toxicity through their effects on mitochondria.MethodsTo examine the molecular mechanisms underlying APOL1 risk variant–induced mitochondrial dysfunction, we generated tetracycline-inducible HEK293 T-REx cells stably expressing the APOL1 nonrisk G0 variant or APOL1 risk variants. Using these cells, we mapped the molecular pathway from mitochondrial import of APOL1 protein to APOL1-induced cell death with small interfering RNA knockdowns, pharmacologic inhibitors, blue native PAGE, mass spectrometry, and assessment of mitochondrial permeability transition pore function.ResultsWe found that the APOL1 G0 and risk variant proteins shared the same import pathway into the mitochondrial matrix. Once inside, G0 remained monomeric, whereas risk variant proteins were prone to forming higher-order oligomers. Both nonrisk G0 and risk variant proteins bound components of the mitochondrial permeability transition pore, but only risk variant proteins activated pore opening. Blocking mitochondrial import of APOL1 risk variants largely eliminated oligomer formation and also rescued toxicity.ConclusionsOur study illuminates important differences in the molecular behavior of APOL1 nonrisk and risk variants, and our observations suggest a mechanism that may explain the very different functional effects of these variants, despite the lack of consistently observed differences in trafficking patterns, intracellular localization, or binding partners. Variant-dependent differences in oligomerization pattern may underlie APOL1’s recessive, gain-of-function biology.

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Bayley, Jean Pierre, Birke Bausch, Johannes Adriaan Rijken, Leonie Theresia van Hulsteijn, Jeroen C. Jansen, David Ascher, Douglas Eduardo Valente Pires et al. "Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma". Journal of Medical Genetics 57, n. 2 (6 settembre 2019): 96–103. http://dx.doi.org/10.1136/jmedgenet-2019-106214.

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BackgroundPathogenic germline variants in subunits of succinate dehydrogenase (SDHB, SDHC and SDHD) are broadly associated with disease subtypes of phaeochromocytoma–paraganglioma (PPGL) syndrome. Our objective was to investigate the role of variant type (ie, missense vs truncating) in determining tumour phenotype.MethodsThree independent datasets comprising 950 PPGL and head and neck paraganglioma (HNPGL) patients were analysed for associations of variant type with tumour type and age-related tumour risk. All patients were carriers of pathogenic germline variants in the SDHB, SDHC or SDHD genes.ResultsTruncating SDH variants were significantly over-represented in clinical cases compared with missense variants, and carriers of SDHD truncating variants had a significantly higher risk for PPGL (p<0.001), an earlier age of diagnosis (p<0.0001) and a greater risk for PPGL/HNPGL comorbidity compared with carriers of missense variants. Carriers of SDHB truncating variants displayed a trend towards increased risk of PPGL, and all three SDH genes showed a trend towards over-representation of missense variants in HNPGL cases. Overall, variant types conferred PPGL risk in the (highest-to-lowest) sequence SDHB truncating, SDHB missense, SDHD truncating and SDHD missense, with the opposite pattern apparent for HNPGL (p<0.001).ConclusionsSDHD truncating variants represent a distinct group, with a clinical phenotype reminiscent of but not identical to SDHB. We propose that surveillance and counselling of carriers of SDHD should be tailored by variant type. The clinical impact of truncating SDHx variants is distinct from missense variants and suggests that residual SDH protein subunit function determines risk and site of disease.

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Park, Jihye, Soo Youn Lee, Su Youn Baik, Chan Hee Park, Jun Hee Yoon, Brian Y. Ryu e Ju Han Kim. "Gene-Wise Burden of Coding Variants Correlates to Noncoding Pharmacogenetic Risk Variants". International Journal of Molecular Sciences 21, n. 9 (27 aprile 2020): 3091. http://dx.doi.org/10.3390/ijms21093091.

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Genetic variability can modulate individual drug responses. A significant portion of pharmacogenetic variants reside in the noncoding genome yet it is unclear if the noncoding variants directly influence protein function and expression or are present on a haplotype including a functionally relevant genetic variation (synthetic association). Gene-wise variant burden (GVB) is a gene-level measure of deleteriousness, reflecting the cumulative effects of deleterious coding variants, predicted in silico. To test potential associations between noncoding and coding pharmacogenetic variants, we computed a drug-level GVB for 5099 drugs from DrugBank for 2504 genomes of the 1000 Genomes Project and evaluated the correlation between the long-known noncoding variant-drug associations in PharmGKB, with functionally relevant rare and common coding variants aggregated into GVBs. We obtained the area under the receiver operating characteristics curve (AUC) by comparing the drug-level GVB ranks against the corresponding pharmacogenetic variants-drug associations in PharmGKB. We obtained high overall AUCs (0.710 ± 0.022–0.734 ± 0.018) for six different methods (i.e., SIFT, MutationTaster, Polyphen-2 HVAR, Polyphen-2 HDIV, phyloP, and GERP++), and further improved the ethnicity-specific validations (0.759 ± 0.066–0.791 ± 0.078). These results suggest that a significant portion of the long-known noncoding variant-drug associations can be explained as synthetic associations with rare and common coding variants burden of the corresponding pharmacogenes.

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Barbirou, Mouadh, Amanda A. Miller, Amel Mezlini, Balkiss Bouhaouala-Zahar e Peter J. Tonellato. "Variant Characterization of a Representative Large Pedigree Suggests “Variant Risk Clusters” Convey Varying Predisposition of Risk to Lynch Syndrome". Cancers 15, n. 16 (12 agosto 2023): 4074. http://dx.doi.org/10.3390/cancers15164074.

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Recently, worldwide incidences of young adult aggressive colorectal cancer (CRC) have rapidly increased. Of these incidences diagnosed as familial Lynch syndrome (LS) CRC, outcomes are extremely poor. In this study, we seek novel familial germline variants from a large pedigree Tunisian family with 12 LS-affected individuals to identify putative germline variants associated with varying risk of LS. Whole-genome sequencing analysis was performed to identify known and novel germline variants shared between affected and non-affected pedigree members. SNPs, indels, and structural variants (SVs) were computationally identified, and their oncological influence was predicted using the Genetic Association of Complex Diseases and Disorders, OncoKB, and My Cancer Genome databases. Of 94 germline familial variants identified with predicted functional impact, 37 SNPs/indels were detected in 28 genes, 2 of which (MLH1 and PRH1-TAS2R14) have known association with CRC and 4 others (PPP1R13B, LAMA5, FTO, and NLRP14) have known association with non-CRC cancers. In addition, 48 of 57 identified SVs overlap with 43 genes. Three of these genes (RELN, IRS2, and FOXP1) have a known association with non-CRC digestive cancers and one (RRAS2) has a known association with non-CRC cancer. Our study identified 83 novel, predicted functionally impactful germline variants grouped in three “variant risk clusters” shared in three familiarly associated LS groups (high, intermediate and low risk). This variant characterization study demonstrates that large pedigree investigations provide important evidence supporting the hypothesis that different “variant risk clusters” can convey different mechanisms of risk and oncogenesis of LS-CRC even within the same pedigree.

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Cannon-Albright, Lisa Anne, Craig Carl Teerlink, Jeff Stevens, Franklin W. Huang, Csilla Sipeky, Johanna Schleutker, Rolando Hernandez, Julio Facelli, Neeraj Agarwal e Donald L. Trump. "A Rare Variant in ERF (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree". Cancers 13, n. 10 (15 maggio 2021): 2399. http://dx.doi.org/10.3390/cancers13102399.

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Pairs of related bladder cancer cases who belong to pedigrees with an excess of bladder cancer were sequenced to identify rare, shared variants as candidate predisposition variants. Candidate variants were tested for association with bladder cancer risk. A validated variant was assayed for segregation to other related cancer cases, and the predicted protein structure of this variant was analyzed. This study of affected bladder cancer relative pairs from high-risk pedigrees identified 152 bladder cancer predisposition candidate variants. One variant in ERF (ETS Repressing Factor) was significantly associated with bladder cancer risk in an independent population, was observed to segregate with bladder and prostate cancer in relatives, and showed evidence for altering the function of the associated protein. This finding of a rare variant in ERF that is strongly associated with bladder and prostate cancer risk in an extended pedigree both validates ERF as a cancer predisposition gene and shows the continuing value of analyzing affected members of high-risk pedigrees to identify and validate rare cancer predisposition variants.

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Boddicker, Nicholas J., Raphael Mwangi, Dennis P. Robinson, Allison C. Rosenthal, Thomas M. Habermann, Andrew L. Feldman, Lisa M. Rimsza et al. "Abstract 5233: Germline CHEK2 variants and risk of lymphoma". Cancer Research 83, n. 7_Supplement (4 aprile 2023): 5233. http://dx.doi.org/10.1158/1538-7445.am2023-5233.

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Abstract Lymphoma is the sixth most commonly diagnosed cancer in the US. Genome-wide association studies have identified common variants associated with risk of specific lymphoma subtypes, but less is known about the contribution of rare inherited variants in the genetic architecture of lymphoma risk. CHEK2 is important to DNA repair and 2 small studies have found evidence of an association between CHEK2 variants and risk of lymphoma. Here, we investigated loss of function (LoF) variants in CHEK2 with risk of lymphoma (overall and subtypes). The study population included newly diagnosed lymphoma cases from Mayo who were enrolled in the Lymphoma SPORE Molecular Epidemiology Resource (MER). Controls were from the Mayo Clinic Biobank, from which we excluded a prior hematologic malignancy. Whole exome sequencing was performed by Regeneron on an Illumina NovaSeq panel (mean coverage of 48X). Variants were called using GATK v4 and variant annotation was performed using BioR. All LoF variants (nonsense, frameshift and consensus splice sites) in CHEK2 with a minor allele frequency < 0.5% were included in the analyses. Logistic regression was used to estimate odds ratio (OR) and 95% confidence intervals (CI) for the association between CHEK2mutation status and risk of lymphoma overall, and by lymphoma subtypes that had more than 5 mutation carriers, which included diffuse large B-cell (DLBCL), follicular (FL), and T-cell lymphoma (TCL). All analyses were adjusted for age (at diagnosis for cases and at enrollment for controls) and sex. A total of 4,852 lymphoma cases and 49,724 controls were included in this analysis. Median age for both cases and controls was 62 years (range 18-99 years). Males accounted for 57.5% (n=2,789) of the cases and 40.6% (n=20,186) of the controls. The DLBCL (23.6% of cases) and FL (23.3% of cases) subtypes were the most common; 7.6% of cases had TCL. A total of 407 (0.7%) individuals had a LoF variant. The frequency of LoF variants was 1.2% in lymphoma cases and 0.7% in controls. LoF variants were associated with increased risk of lymphoma overall (OR=1.77; 95%CI: 1.32-2.33), DLBCL (OR=2.07; 95%CI: 1.20-3.13), and TCL (OR=2.78; 95%CI: 1.178-5.50), but not FL (OR=1.31; 95%CI: 0.65-2.34). CHEK2 c.1100delC was the most frequently mutated variant in this population, accounting for 76% of all LoF variants. Individuals with a c.1100delC variant had an increased risk of lymphoma overall (OR=1.90; 95%CI: 1.37-2.58), DLBCL (OR=2.06; 95%CI: 1.09-3.54), and TCL (OR=3.17; 95%CI:1.24-6.58), but not FL (OR=1.05; 95%CI: 0.41-2.15). When restricted to cases, there was no significant difference in age at diagnosis (P=0.62) or sex (P=0.53) between LoF variant carriers and non-carriers. In this large lymphoma case-control study, CHEK2 LoF variants were associated with increased risk of lymphoma, demonstrating that rare inherited variants may play an important role in the etiology of lymphoma. Additional work is needed to investigate missense variants in CHEK2 and risk of lymphoma. Citation Format: Nicholas J. Boddicker, Raphael Mwangi, Dennis P. Robinson, Allison C. Rosenthal, Thomas M. Habermann, Andrew L. Feldman, Lisa M. Rimsza, Rebecca L. King, Melissa C. Larson, Brianna J. Gysbers, Stephen M. Ansell, Jithma P. Abeykoon, Grzegorz S. Nowakowski, Thomas E. Witzig, Anne J. Novak, Susan L. Slager, James R. Cerhan. Germline CHEK2 variants and risk of lymphoma. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 5233.

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Ament, Seth A., Szabolcs Szelinger, Gustavo Glusman, Justin Ashworth, Liping Hou, Nirmala Akula, Tatyana Shekhtman et al. "Rare variants in neuronal excitability genes influence risk for bipolar disorder". Proceedings of the National Academy of Sciences 112, n. 11 (17 febbraio 2015): 3576–81. http://dx.doi.org/10.1073/pnas.1424958112.

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We sequenced the genomes of 200 individuals from 41 families multiply affected with bipolar disorder (BD) to identify contributions of rare variants to genetic risk. We initially focused on 3,087 candidate genes with known synaptic functions or prior evidence from genome-wide association studies. BD pedigrees had an increased burden of rare variants in genes encoding neuronal ion channels, including subunits of GABAA receptors and voltage-gated calcium channels. Four uncommon coding and regulatory variants also showed significant association, including a missense variant in GABRA6. Targeted sequencing of 26 of these candidate genes in an additional 3,014 cases and 1,717 controls confirmed rare variant associations in ANK3, CACNA1B, CACNA1C, CACNA1D, CACNG2, CAMK2A, and NGF. Variants in promoters and 5′ and 3′ UTRs contributed more strongly than coding variants to risk for BD, both in pedigrees and in the case-control cohort. The genes and pathways identified in this study regulate diverse aspects of neuronal excitability. We conclude that rare variants in neuronal excitability genes contribute to risk for BD.

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Tu, J. J., L. Kuhn, L. Denny, K. J. Beattie, A. Lorincz e T. C. Wright. "Molecular variants of human papillomavirus type 16 and risk for cervical neoplasia in South Africa". International Journal of Gynecologic Cancer 16, n. 2 (marzo 2006): 736–42. http://dx.doi.org/10.1136/ijgc-00009577-200603000-00043.

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Non-European variants of human papillomavirus (HPV) type 16 are generally associated with a greater risk of cervical neoplasia than European prototype variants. We investigated whether this association would persist in a population in which non-European HPV 16 variants were more common. We sequenced HPV 16 isolates in cervical samples collected from 93 Black South African women enrolled in a cervical cancer screening study and examined associations between cervical neoplasia identified though colposcopy with cervical biopsy and the specific HPV 16 variant identified. The European prototype variant (EP) was the most commonly identified variant in this population (47% of all isolates), but African variants (Af-1 and Af-2) were also quite common (41% of all isolates). In contrast to previous studies, we found no evidence that non-European variants were associated with an increased risk of neoplasia. Rather, most of the HPV 16–associated cancers were found in association with EP (71% of 14 cases). In this setting where African HPV 16 variants were common, no increased risk for cervical neoplasia was found among women with these variants compared with other HPV 16 variants.

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Vogan, Kyle. "Bladder exstrophy risk variants". Nature Genetics 47, n. 5 (28 aprile 2015): 429. http://dx.doi.org/10.1038/ng.3298.

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Più fonti

Tesi sul tema "Risk variants"

Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders". Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide association study that identified more than 13 new genetic risk regions influencing susceptibility to coeliac disease are presented. Results of a genome wide association study of azathioprine and 6-mercaptopurine-induced pancreatitis in inflammatory bowel disease-affected individuals are presented. Finally, a cell cytokine release assay for the prostaglandin EP4 receptor was developed, with a view to investigating how SNPs associated with Crohn’s disease in the 5p13.1 region influence EP4 receptor signalling and contribute to disease pathogenesis. This work highlights some of the challenges in moving from SNP-disease associations identified in GWASs to understanding how genetic variants change biological processes.

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Winton, Helen Louise. "Inflammation related genetic variants in high risk corneal transplantation". Thesis, University of Bristol, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.617796.

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Corneal transplantation is the oldest, most common and usually the most successful type of solid tissue allograft. The acceptancc of corneal allografts compared to other categories of allografts is called immune privilege. However, some conditions rob the corneal allograft of its immune privilege and promote rejection, which remains the leading cause of corneal graft failure. The precise immune mechanism underlying graft failure is incompletely understood. While differences in human leukocyte antigen (HLA) molecules between donor and host contribute to the alloreactivity driving the donor-antihost response, the cytokine milieu consisting of molecules that promote and regulate the alloresponse after transplantation is also critical. Single nucleotide polymorph isms (SNPs) in the promoter and coding regions of cytokine genes are associated with differential levels of expression and therefore play an important role in transplantation immunology. Cytokines are integral components of an inflammatory response and there are several potential sources of cytokine release within the cornea and the anterior chamber. This project is a candidate gene association study, focusing on genes known to be involved in ocular immune privilege and the compromise thereof, in corneal transplant recipients at increased risk of rejection (i.e., 'high risk corneal transplantation). In view of their central roles in initiation and suppression of the inflammatory response, tumour necrosis factor alpha (Tufa), interleukin - IO (IL• I 0), interleukin- 17 ( IL-1 7), thrombospondin•1 (TSP-I), vascular endothelial growth factor-A (VEG F-A) and the glucocorticoid cortisol were investigated. All transplants had three-year follow-up and results were analysed by PHASE (maximum-likelihood) analysis is to determine haplotype frequencies. Significant association between two extended TNF-u haplotypes and corneal graft outcome was found: TCTGGA was associated with a decreased risk of cornea] graft failure (n=384, RR 0.04, Cl 002-0.671, P <0.05, Pc <0.05) and TCTAGA was associated with increased risk of failure (n=384, RH. 3.59, Cl 3.21-4.03, P <0.05, Pc <0.05). In addition, a significant association was observed between the 3-1ocus TSP-] haplotype ACA, and an increased risk of corn ca I graft failure (n==359, OR 2.27, 95% Cl 1.65-3.13, P<0.05, P, <0.05).

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Cameli, Cinzia <1988&gt. "Investigation of genetic risk variants for nicotine dependence and cluster headache". Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/8583/1/Cinzia_Cameli_PhD_Thesis.pdf.

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The main focus of my PhD has been the analysis of rare and common variants in genetic susceptibility to two complex traits: nicotine dependence (ND) and cluster headache (CH). Firstly, we conducted a genetic study to investigate the role of genetic variation at CHRNA7 and CHRFAM7A in smoking phenotypes, and to test the hypothesis that 7nAChR variation may modulate the efficacy of varenicline in smoking cessation. The study was performed on 408 regular tobacco smokers, recruited at smoking cessation centers, including 142 individuals treated with varenicline. We determined the CHRNA7 and CHRFAM7A copy number, the rs67158670 genotypes in CHRFAM7A and we resequenced the CHRNA7 proximal promoter. Our results point to a role for CHRNA7 promoter variants in tobacco addiction mechanisms; moreover, our study provides the first evidence that CHRFAM7A copy number variation could affect the response to varenicline treatment. Secondly, In order to investigate the genetic background of CH we performed a genome-wide association analysis on 99 Italian CH patients and 359 controls, using the Infinium PsychArray (Illumina). SNPs genotyping data were used to conduct genome-wide single marker case-control association analysis using common SNPs. Even if no genome-wide significant loci were reported, this analysis led to the identification of a suggestive association with a common variant of the PACAP receptor gene (ADCYAP1R1). Furthermore, we performed a gene-based association analysis considering rare protein altering variants in 745 candidate genes with a possible role in CH. This analysis provided evidence of association for a rare potentially damaging missense variant in the MME gene. ADCYAP1R1 and MME both represent very interesting candidate genes for CH, as their gene products are known to have an important function in pain mechanisms; thus, our study provides the first evidence that genetic variation in genes related to pain processing might have a role in CH susceptibility.

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Zhao, Jing. "Rare and common genetic variant associations with quantitative human phenotypes". Diss., Georgia Institute of Technology, 2015. http://hdl.handle.net/1853/53923.

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This dissertation aims at investigating the association between genotypes and phenotypes in human. Both common and rare regulatory variants have been studied. The phenotypes include disease risk, clinical traits and gene expression levels. This dissertation describes three different types of association study. The first study investigated the relationship between common variants and three sub-clinical traits as well as three complex diseases in the Center for Health Discovery and Well Being study (CHDWB). The second study is GWAS analysis of TNF-α and BMI/CRP conducted as a contribution to meta-GWAS analyses of these traits with investigators at the University of Groningen in the Netherlands, and the 1000 Genomes Consortium. The third study was the most original contribution of my thesis as it assessed the association between rare regulatory variants in promoter regions and gene expression levels. The results clearly show an enrichment of rare variants at both extremes of gene expression. This dissertation provides insight into how common and rare variants associate with broadly-defined quantitative phenotypes. The demonstration that rare regulatory variants make a substantial contribution to gene expression variation has important implications for personalized medicine as it implies that de novo and other rare alleles need to be considered as candidate effectors of rare disease risk.

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Song, Ci, Nancy L. Pedersen, Chandra A. Reynolds, Maria Sabater-Lleal, Stavroula Kanoni, Christina Willenborg, Ann-Christine Syvänen et al. "Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction". Uppsala universitet, Molekylär medicin, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-200108.

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Background: Circulating lipids levels, as well as several familial lipid metabolism disorders, are strongly associated with initiation and progression of atherosclerosis and incidence of myocardial infarction (MI). Objectives: We hypothesized that genetic variants associated with circulating lipid levels would also be associated with MI incidence, and have tested this in three independent samples. Setting and Subjects: Using age- and sex-adjusted additive genetic models, we analyzed 554 single nucleotide polymorphisms (SNPs) in 41 candidate gene regions proposed to be involved in lipid-related pathways potentially predisposing to incidence of MI in 2,602 participants of the Swedish Twin Register (STR; 57% women). All associations with nominal P<0.01 were further investigated in the Uppsala Longitudinal Study of Adult Men (ULSAM; N = 1,142). Results: In the present study, we report associations of lipid-related SNPs with incident MI in two community-based longitudinal studies with in silico replication in a meta-analysis of genome-wide association studies. Overall, there were 9 SNPs in STR with nominal P-value <0.01 that were successfully genotyped in ULSAM. rs4149313 located in ABCA1 was associated with MI incidence in both longitudinal study samples with nominal significance (hazard ratio, 1.36 and 1.40; P-value, 0.004 and 0.015 in STR and ULSAM, respectively). In silico replication supported the association of rs4149313 with coronary artery disease in an independent meta-analysis including 173,975 individuals of European descent from the CARDIoGRAMplusC4D consortium (odds ratio, 1.03; P-value, 0.048). Conclusions: rs4149313 is one of the few amino acid changing variants in ABCA1 known to associate with reduced cholesterol efflux. Our results are suggestive of a weak association between this variant and the development of atherosclerosis and MI.

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Eggert, Stacey Lynn. "Identification and Characterization of Genetic Variants Conveying Risk to Develop Uterine Leiomyomata". Thesis, Harvard University, 2011. http://dissertations.umi.com/gsas.harvard:10005.

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Uterine leiomyomata (UL), commonly known as fibroids, are a major public health problem given their extreme prevalence (>70%), severity of associated symptoms, and indication for hysterectomies in women of reproductive age. Familial aggregation and twin studies have provided evidence for a genetic component to predisposition to develop UL. To date, a small number of genes involved in UL biology, including HMGA2, have been discovered through cytogenetic studies of the tumors. HMGA2 is involved in recurrent translocations in UL and a TC repeat polymorphism in the gene is associated with UL diagnosis. In this thesis, I investigate the possible role of the TC repeat in HMGA2 expression. In 293T cells, the TC repeat number did not affect promoter activation, however, in the more relevant UL and myometrial cells, HMGA2 promoter activation was severely impaired and a definitive conclusion could not be made. Genome-wide linkage and association studies provide a promising, unbiased approach for revealing additional regions of the genome associated with UL. In this thesis, I describe results from the first genome-wide linkage and association studies performed in white women affected with UL. A genome-wide linkage study of affected white sister pairs revealed two significant linkage peaks in 10p11 (LOD=4.15) and 3p21 (LOD=3.73) with five suggestive peaks (LOD>2.00) in 2q37, 5p13, 11p15, 12q14, and 17q25. A meta-analysis of genome-wide association results in two independent cohorts of white women revealed a single nucleotide polymorphism (SNP) with genome-wide significance that is associated with UL diagnosis (rs4247357, P=3.05E-08, odds ratio (OR) =1.299). The candidate SNP is located under the UL linkage peak at 17q25 and is in a large block of linkage disequilibrium (LD) which spans three genes: fatty acid synthase (FASN), coiled-coil domain containing 57 (CCDC57) and solute carrier family 16, member 3 (SLC16A3). FAS transcripts and/or protein levels are up-regulated in various neoplasms and have been implicated in tumor cell survival. By tissue microarray immunohistochemistry, we found FAS protein expression elevated three-fold in UL when compared to matched myometrial tissue implicating FASN as the first UL risk allele identified in white women by a genome-wide, unbiased approach.

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West, S. L. "The search for genetic variants that influence the risk of colorectal cancer". Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1302552/.

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The main aim of this thesis was to uncover common low penetrance variants that influence susceptibility to colorectal cancer (CRC). This was largely considered in relation to the analysis of the plethora of genetic data from our large genome‐wide association study. My work includes fine‐mapping of associated loci through additional genotyping, gene screening, and imputation for the prediction of untyped SNPs, which improved the resolution for fine-mapping and facilitated meta-analysis with datasets typed on different arrays. This led to the identification of 14 independent risk loci, while an association analysis of the X chromosome revealed evidence for two additional risk variants. I cover the detection of runs of homozygous SNPs to investigate the relationship between homozygosity and CRC and show that there is no evidence for increased homozygosity in cases in the UK population. I go on to investigate linkage based techniques to perform an analysis of chromosomal regions identical by descent (IBD), which are shared between unrelated cases more often than controls that could harbour risk variants and identified a number of good candidate genes, such as AXIN2 and E2F7, which require further analysis in additional samples. I also search for moderate penetrance susceptibility variants in several families with a dominant‐like inheritance and compare identified linkage peaks with the results of a loss of heterozygosity analysis of tumour DNA from family members to identify potential tumour suppressor genes. This analysis identified several promising regions and led to the detection of a SMAD4 mutation in one family. The associated variants identified in this study provide good evidence that the common‐disease common-variant hypothesis holds true, but that this is not the whole story as these variants account for just 8% of the familial risk. Further research and techniques will be required to uncover the remaining missing heritability.

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Hamdi, Yosr. "Evaluation of the association between common genetic variants and breast cancer risk". Doctoral thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/28384.

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Le cancer du sein est la néoplasie la plus fréquente chez la femme. Un ensemble de facteurs génétiques et environnementaux sont impliqués dans cette maladie complexe. Dans le cadre de mes études doctorales, je me suis intéressée à la composante génétique associée au risque de cancer du sein chez les femmes dans la population générale ainsi qu’à la modification du risque pour ce cancer chez des porteuses de mutations des gènes BRCA1 et BRCA2. Actuellement, environ la moitié de cette composante génétique est expliquée par une combinaison d'allèles à pénétrance faible, moyenne ou élevée. En outre, de récentes études ont démontré l'implication majeure de certains facteurs génétiques dans la modification du risque de cancer du sein chez des porteuses de mutations de BRCA1 et BRCA2. Dans le cadre de ce projet, nous avons étudié l’impact potentiel de certains variants génétiques dans les régions régulatrices de différents gènes et évalué leurs associations avec le risque de cancer du sein. Le projet a été divisé en deux parties : tout d'abord, nous avons évalué l'association directe entre les variants associés avec l’expression allélique différentielle et le risque de cancer du sein, afin d'identifier de nouveaux locus de susceptibilité à ce cancer. En second lieu, nous avons évalué l'impact sur l’expression génique de variants caractérisés au sein des régions promotrices de certains gènes sélectionnés, pour ensuite évaluer l’impact de ces variants sur l’expression génique. En résumé, la première partie de ce projet a conduit à l'identification d'un nouveau locus de faible pénétrance associés au risque de cancer du sein sur le locus 4q21 (rs11099601, odds ratio=1.05, p = 6.4 x 10-6), et deux nouveaux locus (11q22.3 et BRCA1- rs16942) associés avec la modification du risque de cancer du sein chez les porteuses de mutations du gène BRCA1. La seconde partie du projet a permis l'identification de nouveaux variants fonctionnels situés dans les régions promotrices des gènes ESR1, ESR2, FOXA1, RAP80, NBN et CDC7. D’autres études d’association dans de plus large cohorte ainsi que d’autres analyses fonctionnelles seront nécessaires pour confimer ces résultats, ce qui permettra de les inclure dans les nouveaux outils de prédiction de risque et ainsi assurer une estimation plus précise du risque de cancer du sein.
Breast cancer is the most common malignancy in women. A set of environmental and genetic factors are involved in this complex disease. This project focused on the genetic components of breast cancer susceptibility and breast cancer risk modification in BRCA1 and BRCA2 mutation carriers. Currently, about half of the inherited susceptibility to breast cancer can be imputed to a combination of high-, intermediate-, and low-risk alleles. Thus, many as yet unknown susceptibility loci remain to be identified. Moreover, recent studies have provided evidence for the involvement of genetic risk factors that might considerably modify the risk of developing breast cancer in BRCA1 and BRCA2 mutation carriers. Furthermore, genome-wide association studies have shown that several genetic variants within non-coding gene regions are associated with breast cancer risk. In this project, we focused on regulatory gene variants and their association with breast cancer risk. The project was divided in two parts. In the first section, we evaluated the direct association between single-nucleotide polymorphisms associated with differential allelic expression and breast cancer risk in order to identify new loci of breast cancer susceptibility. In the second part, we evaluated the functional impact on gene expression of variants identified within the promoter regions of selected candidate genes and then, characterize the functional impact of these variants. In summary, the first part of this project has led to the identification of a new low-penetrance locus associated with breast cancer risk on the 4q21 locus (rs11099601; odds ratio=1.05, p= 6.4 x 10-6), and two new modifiers of breast cancer risk in BRCA1 mutations carriers (11q22.3 locus and the wild type allele of BRCA1). The second part of the project allowed us to describe new functional variants within the promoters of the selected breast cancer gene candidates. Other association studies in larger cohorts and further functional analysis will be required to confirm these results, which will allow their inclusion in breast cancer risk prediction tools and thus ensure a more accurate estimation of breast cancer risk.

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Soemedi, Rachel. "Contribution of copy number variants to the risk of sporadic congenital heart disease". Thesis, University of Newcastle Upon Tyne, 2012. http://hdl.handle.net/10443/1740.

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Congenital heart disease (CHD) is the most common congenital malformation with a birth prevalence of 7/1000. CHD may occur as Mendelian syndromic disorders or as isolated conditions. The latter represent the majority (~80%) of CHD cases. Recent technological advancements have allowed large-scale genome-wide characterization of copy number variants (CNVs), which have been proposed to contribute to the risk of sporadic CHD. This thesis presents a genome-wide CNV study involving 2256 sporadic, isolated CHD patients, 283 trio CHD families, and 1538 ancestry-matched controls that were typed on the Illumina 660W-Q SNP platform. This was followed by an extensive validation study using comparative genomic hybridization arrays, multiplex ligation-dependent probe amplification and quantitative-fluorescent PCR assays. A global enrichment of rare genic deletions was identified in CHD patients (OR = 1.8, P = 0.001), compared to controls. Rare deletions that are associated with CHD had higher gene content (P = 0.001) and higher haploinsufficiency scores (P = 0.03). Additionally, they were enriched with genes involved in the Wnt signalling pathway, known for its pivotal role in cardiac morphogenesis. Rare de novo CNVs were also identified in ~5% CHD trios; 91% of which occurred on the paternal, as opposed to the maternal chromosome (P = 0.01). They spanned previously known candidate loci as well as novel loci for CHD. Individual locus enrichments in cases vs. controls were identified for CNVs at chromosomes 1q21.1 and 15q11.2. A phenotype-specific effect was observed for the 1q21.1 CNVs, and GJA5 was identified as the causative gene for CHD in this locus. In conclusion, global rare genic deletions contribute ~4% of the population attributable risk of sporadic CHD. CNVs implicating 1q21.1, 15q11.2 and Wnt signalling genes are associated with CHD. Rare de novo CNVs identified in CHD trios exhibit a paternal origin bias possibly of relevance to the epidemiology of CHD.

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Kvaskoff, Marina. "Endometriosis and naevus-associated gene variants in relation to risk of cutaneous melanoma". Paris 11, 2009. http://www.theses.fr/2009PA11T090.

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Libri sul tema "Risk variants"

Popkin, Ronna. Variants of Significance? The Production and Management of Genetic Risk for Breast and Ovarian Cancer in the Era of Multi-Gene Panel Testing. [New York, N.Y.?]: [publisher not identified], 2019.

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Lajeri, Fatma. Risk aversion and prudence: The case of mean-variance preferences. Fontainebleau: INSEAD, 1993.

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Martin, Jolie Mae. Variance-seeking for positive (and variance-aversion for negative) experiences: Risk-seeking in the domain of gains? Boston]: Harvard Business School, 2008.

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Copeland, Laurence S. Inflation, interest rate risk and the variance of common stock prices. Manchester: Manchester Business School, 1986.

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O'Gorman, Aongus J. Mean-risk analysis: An examination of semivariance as an alternative to the traditional risk measure of variance. Dublin: University College Dublin, 1994.

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Johnson, D. G. The robustness of mean and variance approximations in pert and risk analysis. Loughborough, Leics: Loughborough University Business School, 1997.

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Geyer, Alois. Information, Erwartung und Risiko: Aspekte der Verteilung, Abhängigkeit und Varianz von finanzwirtschaftlichen Zeitreihen. München: VVF, 1992.

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Holdt, Lesca M., e Daniel Teupser. Genetic background of atherosclerosis and its risk factors. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199656653.003.0002.

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This chapter is concerned with how atherosclerosis risk is modulated by a complex interplay between genetic and environmental risk factors. The contribution of genetics to the variability of atherosclerosis risk is estimated as 50%. Recent genome-wide association studies have led to the identification of over 50 gene variants which modulate atherogenesis. Risk factors for atherosclerosis are also partly genetically determined and some of the variants which play a role in atherogenesis overlap with those modulating its risk factors. However, the current relevance of these findings for clinical practice is limited, mainly due to the small effect sizes of identified risk variants with insufficient discriminatory power, and a large portion of the genetic contribution to atherosclerosis is still unknown. The major promise therefore lies in understanding the pathophysiology of newly identified genes with the perspective of novel therapeutic approaches.

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Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, Chenan Zhang, Brandon Pierce, Sara Lindström e Peter Kraft. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.

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Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger number of common variants with modest relative risks. The chapter discusses the implications of these findings for clinical care, public health, and tumor biology. It closes with a discussion of open questions, most notably the puzzle of “missing heritability”: the fact that—despite tremendous advances—multiple lines of evidence suggest that most specific risk variants, both rare and common, have yet to be discovered.

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Merriman, Tony R. The genetic basis of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0040.

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An individual’s risk of gout is determined by a complex relationship between inherited genetic variants and environmental exposures. Genetic variants that control hyperuricaemia and subsequent progression to clinical gout specify pathogenic pathways that could be therapeutically targeted. Genome-wide association studies (GWAS) have provided novel insights into the pathways leading to hyperuricaemia. GWAS have identified the renal uric acid transporter SLC2A9/GLUT9 and the gut excretory molecule ABCG2, which each have very strong genetic effects in the control of urate levels and risk of gout. Histone deacetylase inhibitors are able to correct the genetically-determined ABCG2 dysfunction. Other renal uric acid transporters, such as SLC22A11/OAT4 and SLC22A12/URAT1 have been confirmed to be genetically associated with urate and the risk of gout. Genes that generate urate during glycolysis (e.g. GCKR) are also implicated. In contrast very little is known about genetic variants that control the progression from hyperuricaemia to gout with the toll-like receptor 4 gene being the only gene with replicated evidence of association.

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Capitoli di libri sul tema "Risk variants"

Pfeiffer, Ruth M., e Mitchell H. Gail. "Risk estimates based on genetic variants and family studies". In Absolute Risk, 135–49. Boca Raton : Taylor & Francis, a CRC title, part of the Taylor & Francis imprint, a member of the Taylor & Francis Group, the academic division of T&F Informa plc, 2017. |: Chapman and Hall/CRC, 2017. http://dx.doi.org/10.1201/9781315117539-9.

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Song, Yiqing, Cuilin Zhang, Lu Wang, Qi Dai e Simin Liu. "Magnesium Intake, Genetic Variants, and Diabetes Risk". In Magnesium in Human Health and Disease, 103–18. Totowa, NJ: Humana Press, 2012. http://dx.doi.org/10.1007/978-1-62703-044-1_6.

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Velaga, Ravi, Masakazu Toi, Nobuko Kawaguchi-Sakita, John R. Benson e Noriko Senda. "Hereditary Breast Cancer and Pathogenic Germline Variants". In Screening and Risk Reduction Strategies for Breast Cancer, 45–59. Singapore: Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-19-7630-8_3.

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Negi, Archita, e Farshid Hajati. "Analysis of Variants of KNN for Disease Risk Prediction". In Advanced Information Networking and Applications, 531–45. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-99619-2_50.

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Pack, Allan I. "Evolving Approaches to Identifying Genetic Risk Variants for Sleep Disorders". In Translational Medicine Research, 3–20. Dordrecht: Springer Netherlands, 2022. http://dx.doi.org/10.1007/978-94-024-2168-2_1.

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Moustafa, Julia Sarah El-Sayed, e Philippe Froguel. "Copy Number Variants and Their Contribution to the Risk of Obesity". In The Genetics of Obesity, 55–70. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8642-8_4.

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Wortsman, Ximena, e Camila Ferreira-Wortsman. "Relevant Topographic Anatomy of the Head, Anatomical Variants, and Risk Zones". In Textbook of Dermatologic Ultrasound, 101–29. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-08736-3_6.

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Sakr, Rita A., e Hassan Ghazal. "Genetic Testing for Cancer Risk in the UAE". In Cancer Care in the United Arab Emirates, 235–43. Singapore: Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-99-6794-0_15.

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AbstractHereditary cancers are estimated to account for 10% of all cancers. Clinical genetics initially provided genetic testing to cancer patients and/or those with a strong family history of cancer. Hereditary cancer gene testing became more widely available as a result of research into inherited genes and the revolutionary development of genetic testing technologies. As a result, testing has been expanded to include medical specialties other than clinical genetics. The increased testing rate resulted in the identification of more patients with pathogenic mutations, but it also resulted in a very high detection rate of variants of uncertain significance, which can cause further confusion among families and distress in patients. Therefore, a crucial suggestion would be that multigene testing should be considered only after proper evaluation for clinical suspicion of hereditary cancer susceptibility, which would be best offered by clinical genetics and/or doctors trained in oncogenetics.

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De Timmerman, Romeo, Anne-Sophie Bafort, Sofie Van de Geuchte, Mieke Vandenbroucke e Stef Slembrouck. "Chapter 5. Formulations of risk and responsibility in COVID-19 contact tracing telephone interactions in Flanders, Belgium". In Risk Discourse and Responsibility, 118–41. Amsterdam: John Benjamins Publishing Company, 2023. http://dx.doi.org/10.1075/pbns.336.05det.

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Government responses to the Covid-19 health crisis are composed of recursively applied stages of risk calculation and management as necessary processes in the containment of outbreaks. One of the most prominent forms of risk management in Flanders was contact tracing. It occurs in three variants: (i) the development and implementation of a smartphone-based contact tracing app, (ii) regionally-organised contact tracing telephone conversations conducted through commercially-contracted call centres, and (iii) home visiting by local field agents of populations who are difficult to reach. This chapter focuses on (ii), due to its prevalence, and is based on an interactional analysis of a corpus of 220 contact tracing conversations with index patients that was compiled late 2020 and early 2021. The chapter opens with a discussion of the notions of “Risk Society” and “responsibilisation” as relevant socio-cultural orientations in the current era of globalized Late Modernity and “governmentality” as a discursive field. The regionally-organised contact tracing telephone call can be characterized as a large-scale, micro-level form of interactionally and dialogically-accomplished risk management. The genre foregrounds the articulation of multiple dimensions of risk and responsibility, situated at various levels of social organization and appeal. The management of risk and responsibility intersects with the accomplishment of the specific communicative functions of the genre. The contact tracer’s three-fold task is to (i) gather private information about the index patient’s symptoms and their contacts during a relevant time period; (ii) provide instructions about quarantine. In addition, (iii) contact tracers are expected to sustain a caring and empathetic stance during their interactions with index patients. In this respect, the contact tracers’ responsibilities include their role as a representative of the government’s risk-managing response to successive stages of the pandemic. The analysis illustrates how various formulations of risk and responsibility interrelate with the communicative goals and the specific interactional demands of contact tracing telephone conversations.

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Anumba, Dilly OC, e Shamanthi M. Jayasooriya. "Prenatal Risk Assessment for Preterm Birth in Low-Resource Settings: Demographics and Obstetric History". In Evidence Based Global Health Manual for Preterm Birth Risk Assessment, 15–23. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-04462-5_3.

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AbstractMaternal demographics and past obstetric history provide important information regarding the risk of preterm birth. Careful assessment for these factors at pregnancy registration is crucial for preterm birth risk assessment and signposting of care to mitigate preterm birth where possible. Demographic factors evidenced to increase the risk of PTB include extremes of maternal age, black ethnicity, and history of domestic abuse. Obstetric risk factors include a history of previous preterm birth, late miscarriage, stillbirth, cervical surgery, or uterine variants. In an index pregnancy, multiple pregnancy is a main predictor of preterm birth. Early pregnancy risk assessment for these factors can inform generic measures aimed at mitigating the occurrence and consequences of preterm birth. Importantly, further risk assessment and surveillance, including where possible assessment of the cervix for shortening by transvaginal ultrasound, can inform antenatal care to optimise birth outcomes, by referral to a preterm birth prevention or high risk pregnancy service, or offering cervical cerclage or progesterone supplementation.

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Atti di convegni sul tema "Risk variants"

Leung, Hareton K. N. "Variants of Risk and Opportunity". In 2010 17th Asia Pacific Software Engineering Conference (APSEC). IEEE, 2010. http://dx.doi.org/10.1109/apsec.2010.52.

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Hunter, David J. "Prediction of disease risk using common genetic variants". In AACR International Conference: Molecular Diagnostics in Cancer Therapeutic Development– Sep 27-30, 2010; Denver, CO. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/diag-10-pl5-2.

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Permuth-Wey, Jennifer, Ya-Yu Tsai, Y. Ann Chen, Zhihua Chen, Johnathan M. Lancaster, Edwin Iverson, Harvey Risch et al. "Abstract 2835: Mitochondrial genetic variants influence ovarian cancer risk". In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2835.

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Schmitt, Robert, Bjorn Falk, Maximilian Russmann, Christian Brecher, Werner Herfs e Adam Malik. "Risk management across variants requirements and outlook for an efficient risk assessment of machines". In 2015 First IEEE International Symposium on Systems Engineering (ISSE). IEEE, 2015. http://dx.doi.org/10.1109/syseng.2015.7302758.

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Du, Mengmeng, Shuo Jiao, Stephanie A. Rosse, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner et al. "Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants". In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-2190.

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Kelemen, Linda E., Jonathan Tyrer, Catherine M. Phelan, Susan J. Ramus, Andrew Berchuck, Simon A. Gayther, Ellen L. Goode et al. "Abstract 3283: GWAS identifies risk variants for mucinous ovarian carcinoma". In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-3283.

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Andavolu, Radhika G., Jean-Luc Cardenas, Ross Shore, Zach Rubin, James MacMurray, Krishna Kanth Chiravuri, Murthy VS Andavolu e Svetlana Rubakovic. "Abstract 1932: Association of genetic variants with prostate cancer risk." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1932.

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Tingle, Sharna, Danielle Carrick, Sheri Schully, Mindy Clyne e Stefanie A. Nelson. "Abstract 5572: Tracking the functional analysis of cancer risk variants". In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-5572.

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Craig, Daniel J., Mazzin Elsamaloty, Thomas M. Blomquist, Erin L. Crawford e James C. Willey. "Abstract 2222: Using rare variants to characterize lung cancer risk". In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-2222.

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Chiu, Kuo-Liang, Wen-Shin Chang, Chia-Wen Tsai, Mei-Chin Mong, Te-Chun Hsia e Da-Tian Bau. "MEG3 SNP variants are associated with the risk of asthma". In ERS International Congress 2023 abstracts. European Respiratory Society, 2023. http://dx.doi.org/10.1183/13993003.congress-2023.pa2320.

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Rapporti di organizzazioni sul tema "Risk variants"

Chang, Bao-Li. Sequence Variants in Estrogen Receptors and Risk for Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, marzo 2004. http://dx.doi.org/10.21236/ada425852.

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Murph, Leigh. The Estrogen Receptor and Its Variants as Risk Factors in Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, novembre 2001. http://dx.doi.org/10.21236/ada405667.

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Tuite, Ashleigh R., David N. Fisman, Ayodele Odutayo, Pavlos Bobos, Vanessa Allen, Isaac I. Bogoch, Adalsteinn D. Brown et al. COVID-19 Hospitalizations, ICU Admissions and Deaths Associated with the New Variants of Concern. Ontario COVID-19 Science Advisory Table, marzo 2021. http://dx.doi.org/10.47326/ocsat.2021.02.18.1.0.

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New variants of concern (VOCs) now account for 67% of all Ontario SARS-CoV-2 infections. Compared with early variants of SARS-CoV-2, VOCs are associated with a 63% increased risk of hospitalization, a 103% increased risk of intensive care unit (ICU) admission and a 56% increased risk of death due to COVID-19. VOCs are having a substantial impact on Ontario’s healthcare system. On March 28, 2021, the daily number of new SARS-CoV-2 infections in Ontario reached the daily number of cases observed near the height of the second wave, at the start of the province-wide lockdown, on December 26, 2020. The number of people hospitalized with COVID-19 is now 21% higher than at the start of the province-wide lockdown, while ICU occupancy is 28% higher (Figure 1). The percentage of COVID-19 patients in ICUs who are younger than 60 years is about 50% higher now than it was prior to the start of the province-wide lockdown. Because the increased risk of COVID-19 hospitalization, ICU admission and death with VOCs is most pronounced 14 to 28 days after diagnosis, there will be significant delays until the full burden to the health care system becomes apparent.

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Lehman, Donna, e Robin Leach. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genomewide Screening Method. Fort Belvoir, VA: Defense Technical Information Center, dicembre 2014. http://dx.doi.org/10.21236/ada615419.

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Lehman, Donna, Robin Leach e August Blackburn. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genome-Wide Screening Method. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2010. http://dx.doi.org/10.21236/ada542445.

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Lehman, Donna, August Blackburn e Robin Leach. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression using a Novel Genome-Wide Screening Method. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2012. http://dx.doi.org/10.21236/ada568305.

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Lehman, Donna, e Robin Leach. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genome-Wide Screening Method. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2013. http://dx.doi.org/10.21236/ada594060.

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Lehman, Donna. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genome-Wide Screening Method. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2011. http://dx.doi.org/10.21236/ada554128.

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Jia, Ziqi, Jiang Wu, Jiaxin Li, Jiaqi Liu e Xiang Wang. Meta-analysis of breast cancer risk associated with established germline pathogenic variants in breast cancer-predisposition genes in population-based studies. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, febbraio 2021. http://dx.doi.org/10.37766/inplasy2021.2.0017.

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Welch, David, e Gregory Deierlein. Technical Background Report for Structural Analysis and Performance Assessment (PEER-CEA Project). Pacific Earthquake Engineering Research Center, University of California, Berkeley, CA, novembre 2020. http://dx.doi.org/10.55461/yyqh3072.

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This report outlines the development of earthquake damage functions and comparative loss metrics for single-family wood-frame buildings with and without seismic retrofit of vulnerable cripple wall and stem wall conditions. The underlying goal of the study is to quantify the benefits of the seismic retrofit in terms of reduced earthquake damage and repair or reconstruction costs. The earthquake damage and economic losses are evaluated based on the FEMA P-58 methodology, which incorporates detailed building information and analyses to characterize the seismic hazard, structural response, earthquake damage, and repair/reconstruction costs. The analyses are informed by and include information from other working groups of the Project to: (1) summarize past research on performance of wood-frame houses; (2) identify construction features to characterize alternative variants of wood-frame houses; (3) characterize earthquake hazard and ground motions in California; (4) conduct laboratory tests of cripple wall panels, wood-frame wall subassemblies and sill anchorages; and (5) validate the component loss models with data from insurance claims adjustors. Damage functions are developed for a set of wood-frame building variants that are distinguished by the number of stories (one- versus two-story), era (age) of construction, interior wall and ceiling materials, exterior cladding material, and height of the cripple walls. The variant houses are evaluated using seismic hazard information and ground motions for several California locations, which were chosen to represent the range seismicity conditions and retrofit design classifications outlined in the FEMA P-1100 guidelines for seismic retrofit. The resulting loss models for the Index Building variants are expressed in terms of three outputs: Mean Loss Curves (damage functions), relating expected loss (repair cost) to ground-motion shaking intensity, Expected Annual Loss, describing the expected (mean) loss at a specific building location due to the risk of earthquake damage, calculated on an annualized basis, and Expected RC250 Loss, which is the cost of repairing damage due to earthquake ground shaking with a return period of 250 years (20% chance of exceedance in 50 years). The loss curves demonstrate the effect of seismic retrofit by comparing losses in the existing (unretrofitted) and retrofitted condition across a range of seismic intensities. The general findings and observations demonstrate: (1) cripple walls in houses with exterior wood siding are more vulnerable than ones with stucco siding to collapse and damage; (2) older pre-1945 houses with plaster on wood lath interior walls are more susceptible to damage and losses than more recent houses with gypsum wallboard interiors; (3) two-story houses are more vulnerable than one-story houses; (4) taller (e.g., 6-ft-tall) cripple walls are generally less vulnerable to damage and collapse than shorter (e.g., 2-ft-tall) cripple walls; (5) houses with deficient stem wall connections are generally observed to be less vulnerable to earthquake damage than equivalent unretrofitted cripple walls with the same superstructure; and (6) the overall risk of losses and the benefits of cripple wall retrofit are larger for sites with higher seismicity. As summarized in the report, seismic retrofit of unbraced cripple walls can significantly reduce the risk of earthquake damage and repair costs, with reductions in Expected RC250 Loss risk of up to 50% of the house replacement value for an older house with wood-frame siding at locations of high seismicity. In addition to the reduction in repair cost risk, the seismic retrofit has an important additional benefit to reduce the risk of major damage that can displace residents from their house for many months.

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