Статті в журналах: "Genetic risk factor"

1

Koch, Linda. "Genetic T2DM risk factor found." Nature Reviews Endocrinology 10, no. 3 (January 14, 2014): 128. http://dx.doi.org/10.1038/nrendo.2013.273.

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Reitsma, Pieter H. "Genetic Risk Factors of Thrombosis." Blood 114, no. 22 (November 20, 2009): SCI—43—SCI—43. http://dx.doi.org/10.1182/blood.v114.22.sci-43.sci-43.

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Abstract Abstract SCI-43 Venous thrombosis is a common episodic disease with a steep age gradient. Interactions between various risk factors determine the development of the disease, and the proportion of variance attributable to genetic factors may be as high as 50-60%. There are six (moderately) strong genetic risk factors. First there are heterozygous deficiencies of the natural anticoagulants protein C, protein S, and antithrombin. These deficiency states are quite rare in the general population (in all races) and their genetic architecture is complex with hundreds of documented mutations. The risk for the development of venous thrombosis may be increased 10-20-fold in these deficiency states. There is no consistent evidence that deficiencies of other members of the anticoagulant systems - such as thrombomodulin, EPCR, and heparin co-factor II - are also strong risk factors for venous thrombosis, possibly because these natural anticoagulants are associated with other episodic or chronic diseases. Secondly there are three genetic factors associated with an increase, directly or indirectly, in the procoagulant potential of the coagulation system: blood group non-O, factor V Leiden and prothrombin G20201A. The genetic architecture of these risk factors is extremely simple. The prevalence in the general Caucasian population is modest for prothrombin G20210A and factor V Leiden; in other races these two risk factors are extremely rare. The increase in thrombotic risk is about 3-fold or 7-fold for prothrombin G20210 and Factor V Leiden respectively. Blood group non-O is the most common of the prothrombotic genetic risk factors and approximately doubles the risk of venous thrombosis, and may do so in all races. In addition to these six ‘classical’ risk factors, a growing list of weak genetic risk factors has been discovered. Almost without exception, these weak risk factors are common single nucleotide polymorphisms in coagulation factor genes - e.g. those encoding for fibrinogen, factor XIII, factor IX, et cetera - that have a small effect on gene function, and consequently a small effect on thrombotic risk. This list of weak but common risk factors is expected to grow considerably in the near future as the large-scale genome wide association studies that are currently under way deliver their results. Moreover, deep resequencing studies are expected to start soon, whether based on a candidate gene approach or genome-wide, which will yield unprecedented insight in the extend to which rare genetic variation determines individual thrombotic risk. Disclosures No relevant conflicts of interest to declare.

3

Sokolova, I. V., D. A. Mustafina, A. G. Sadertdinova, A. N. Zagitova, D. A. Khusnullin, L. G. Sadertdinova, and N. A. Mescheryakov. "GENETIC RISK FACTOR FOR IDIOPATHIC SCOLIOSIS." International Journal of Applied and Fundamental Research (Международный журнал прикладных и фундаментальных исследований), no. 1 2023 (2023): 25–29. http://dx.doi.org/10.17513/mjpfi.13501.

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4

Ohishi, Mitsuru, Kenshi Fujii, Takazo Minamino, Jitsuo Higaki, Atsushi Kamitani, Hiromi Rakugi, Yi Zhao, Hiroshi Mikami, Tetsuro Miki, and Toshio Ogihara. "A potent genetic risk factor for restenosis." Nature Genetics 5, no. 4 (December 1993): 324–25. http://dx.doi.org/10.1038/ng1293-324.

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5

Senior, Kathryn. "New genetic risk factor for sporadic PD." Nature Reviews Neurology 5, no. 7 (July 2009): 354. http://dx.doi.org/10.1038/nrneurol.2009.79.

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6

Bertina, Rogier M. "Factor V Leiden and other coagulation factor mutations affecting thrombotic risk." Clinical Chemistry 43, no. 9 (September 1, 1997): 1678–83. http://dx.doi.org/10.1093/clinchem/43.9.1678.

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Abstract Five genetic defects have been established as risk factors for venous thrombosis. Three are protein C, protein S, and antithrombin deficiencies, defects in the anticoagulant pathways of blood coagulation. Together they can be found in ∼15% of families with inherited thrombophilia. Their laboratory diagnosis is hampered by the large genetic heterogeneity of these defects. The other two genetic risk factors, resistance to activated protein C associated with the factor V Leiden mutation and increased prothrombin associated with the prothrombin 20210 A allele, are much more prevalent and together can be found in 63% of the thrombophilia families. Because both defects are caused by a single mutation, DNA analysis is the basis of their laboratory diagnosis.

7

Cushman, Mary. "Inherited Risk Factors for Venous Thrombosis." Hematology 2005, no. 1 (January 1, 2005): 452–57. http://dx.doi.org/10.1182/asheducation-2005.1.452.

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Abstract Venous thrombosis occurs as a consequence of genetic and environmental risk factors. Since the discovery of factor V Leiden, the most common genetic risk factor, there has been intense interest in clarifying the roles of genes and the environment with thrombosis risk. The translation of this risk information to clinical practice is a challenging one in the setting of a rapidly expanding knowledge base that includes application of genetic medicine. There are benefits, but also potential harms, of testing for inherited disorders associated with thrombosis. This paper reviews inherited risk factors for thrombosis and discuss clinical applications of testing.

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Cheekurthy, Alice Jayapradha. "Predisposition of Obesity through Genetic and Non-Genetic Risk Factors." Journal of Endocrinology Research 2, no. 2 (February 6, 2021): 27. http://dx.doi.org/10.30564/jer.v2i2.2767.

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Globally there is an increase in the number of people affected by obesity.This has increased the count of individuals to double,triple, and even quadruple. Obesity is a complex disease that has a genetic, behavioural,socioeconomic, and environmental effect. This raises morbidity and mortality in obesity. It is an important predisposition for diabetes as well as the current pandemic COVID-19. The rationale of this case-control observational study is to identify obese individuals among the diabetic and non-diabetic population. The study includes non - genetic factors like lipid profiles with genetic factors in form of SNP as a predisposition factor. The amplified portion of the ADIPOQ gene sequence revealed the presence of SNPs rs2241767 in 46.3% population and showed increased lipid profile values. It can be concluded that these are important predisposing factors for obesity.

9

Schwab, Manfred, Andreas Claas, and Larissa Savelyeva. "BRCA2: a genetic risk factor for breast cancer." Cancer Letters 175, no. 1 (January 2002): 1–8. http://dx.doi.org/10.1016/s0304-3835(01)00752-2.

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10

EVANS, JEFF. "Major Genetic Risk Factor Is Discovered for Parkinson's." Clinical Psychiatry News 38, no. 2 (February 2010): 33. http://dx.doi.org/10.1016/s0270-6644(10)70097-7.

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Medda, Emanuela, Serena Donati, Angela Spinelli, and Gian Carlo Di Renzo. "Genetic amniocentesis: a risk factor for preterm delivery?" European Journal of Obstetrics & Gynecology and Reproductive Biology 110, no. 2 (October 2003): 153–58. http://dx.doi.org/10.1016/s0301-2115(03)00106-4.

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12

Utermann, G. "Lipoprotein(a) ? A genetic risk factor for CHD." Fresenius' Journal of Analytical Chemistry 343, no. 1 (1992): 37. http://dx.doi.org/10.1007/bf00331978.

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13

Bertina, Rogier M., and Hans L. Vos. "A Novel Genetic Risk Factor for Venous Thrombosis." Clinical Chemistry 57, no. 4 (April 1, 2011): 637–38. http://dx.doi.org/10.1373/clinchem.2010.158998.

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14

Chaiteerakij, Roongruedee, and Lewis R. Roberts. "Telomerase mutation: A genetic risk factor for cirrhosis." Hepatology 53, no. 5 (April 22, 2011): 1430–32. http://dx.doi.org/10.1002/hep.24304.

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15

Seppa, Nathan. "Risk factor: Genetic defect hikes breast cancer threat." Science News 161, no. 17 (July 1, 2009): 259–60. http://dx.doi.org/10.1002/scin.5591611703.

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16

Daly, Ann K., Christopher P. Day, Yang-Lin Liu, and Quentin M. Anstee. "TM6SF2 as a genetic risk factor for fibrosis." Hepatology 62, no. 4 (June 19, 2015): 1321. http://dx.doi.org/10.1002/hep.27656.

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17

Payne, Thomas H., Lue Ping Zhao, Calvin Le, Peter Wilcox, Troy Yi, Jesse Hinshaw, Duncan Hussey, et al. "Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer." Journal of the American Medical Informatics Association 27, no. 9 (September 1, 2020): 1443–49. http://dx.doi.org/10.1093/jamia/ocaa152.

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Abstract Objective The genetic testing for hereditary breast cancer that is most helpful in high-risk women is underused. Our objective was to quantify the risk factors for heritable breast and ovarian cancer contained in the electronic health record (EHR), to determine how many women meet national guidelines for referral to a cancer genetics professional but have no record of a referral. Methods and Materials We reviewed EHR records of a random sample of women to determine the presence and location of risk-factor information meeting National Comprehensive Cancer Network (NCCN) guidelines for a further genetic risk evaluation for breast and/or ovarian cancer, and determine whether the women were referred for such an evaluation. Results A thorough review of the EHR records of 299 women revealed that 24 (8%) met the NCCN criteria for referral for a further genetic risk evaluation; of these, 12 (50%) had no referral to a medical genetics clinic. Conclusions Half of the women whose EHR records contain risk-factor information meeting the criteria for further genetic risk evaluation for heritable forms of breast and ovarian cancer were not referred.

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RJ, Irmawati, Elsi Tandi Pailan, and Baharuddin Baharuddin. "Risk Factor Analysis of Gout Arthritis." Jurnal Ilmiah Kesehatan Sandi Husada 12, no. 1 (June 1, 2023): 157–62. http://dx.doi.org/10.35816/jiskh.v12i1.919.

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Gout arthritis is an inflammatory disease in the joints, which is still very high and is still a public health problem, especially in Indonesia with a high prevalence. This study aims to determine the risk factors that influence the incidence of Gout arthritis. Quantitative research with a case control study approach. A sample of 60 respondents was 30 each for the case and control groups. The instrument used in this study was in the form of a questionnaire or questionnaire. The data were analyzed using the chi-square test. Genetic statistical test results with values p = 0.002 (<0.05) OR = 6.909 (95% Cl 2.160-22.098), while uric acid levels and purine consumption with p values = 0.558 (>0.05), OR = 1.556 (95% Cl 0.534-4.532) and p = 0.055 (>0.05), OR = 3,500 (95% Cl 1,112-11,017). The conclusion that genetics have a significant influence, while uric acid levels and foods containing purines have no influence on Gout arthritis

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Djordjevic, Valentina, Ljiljana Rakicevic, and Dragica Radojkovic. "An overview of genetic risk factors in thrombophilia." Srpski arhiv za celokupno lekarstvo 138, suppl. 1 (2010): 79–81. http://dx.doi.org/10.2298/sarh10s1079d.

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Thrombophilia is a multifactorial disorder, involving both genetic and acquired risk factors that affect the balance between procoagulant and anticoagulant factors and lead to increased tendency to thrombosis. The concept that thrombophilia could be associated with genetic defects was first proposed in 1965 after the discovery of familiar antihrombin III deficiency. Further family studies showed that deficiency of protein C or protein S also increased thrombotic risk. In the coming years the advent in DNA technology, especially the invention of PCR reaction, played an important role in the identification of the exact nature of these deficiencies and opened new possibilities in the genetic research of thrombophilia. The breakthrough came with the discovery of activated protein C resistance and Factor V Leiden mutation. Shortly afterwards a mutation in the 3? untranslated region of Factor II gene (FII G20210A) associated with increased concentration of factor II in plasma, was described. Large epidemiologic studies have conformed that these two common mutations represent significant risk factors for thrombophilia. In the last decade several prothrombotic genetic risk factors have been described, including genes variants associated with increased levels of coagulation factors, defects of natural coagulation inhibitors, defects of the fibrinolytic system and hyperhomocysteinemia. These genetic defects or their combination have been extensively studied in an attempt to elucidate the possible association with increased thrombotic tendency. The large-scale DNA analysis systems are now becoming available, opening a new era in the genetic studies of thrombophilia. New technology will enable many genes to be studied in a single patient bringing us closer to the ?personalized? medicine.

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Cattaneo, Marco, Emanuela Taioli, Valerio De Stefano, Patrizia Chiusolo, Pier Mannuccio Mannucci, and Ida Martinelli. "Genetic Risk Factors for Superficial Vein Thrombosis." Thrombosis and Haemostasis 82, no. 10 (1999): 1215–17. http://dx.doi.org/10.1055/s-0037-1614362.

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SummaryInherited thrombophilic states are associated with an increased risk for deep vein thrombosis (DVT), but whether they are also risk factors for superficial vein thrombosis (SVT) is uncertain. We assessed the risk conferred by inherited thrombophilic states in patients with a first episode of SVT in whom the coexistence of DVT had been ruled out by ultrasonography. Sixty-three patients with SVT, after exclusion of patients with varicose veins, malignant or autoimmune disease, and 537 healthy individuals were investigated. The G1691A mutation in the factor V gene, the G20210A mutation in the prothrombin gene, and deficiencies of the naturally occurring inhibitors of coagulation (antithrombin, protein C, protein S) were searched. The prevalence of each thrombophilic state was higher in patients than in controls. The odds ratios for SVT were 6.1 (95% confidence interval [CI], 2.6 to 14.2) in patients with the G1691A factor V mutation, 4.3 (95% CI, 1.5 to 12.6) in those with the G20210A prothrombin mutation, and 12.9 (95% CI, 3.6 to 46.2) in those with deficiencies of the naturally occurring inhibitors of coagulation taken together. Risks did not substantially change when the analysis was restricted to 43 patients who had SVT as their only thrombotic manifestation, being 4.3 (95% CI, 1.5 to 12.3) in patients with factor V mutation, and 3.6 (95% CI, 1.0 to 13.1) in those with the prothrombin mutation. Among the circumstantial risk factors investigated (surgery, trauma, prolonged immobilization, oral contraceptives and pregnancy or puerperium), pregnancy or puerperium was the most frequently associated with SVT, being present in 38% of women. Our findings indicate that inherited thrombophilic states are associated with an increased risk for SVT. Hence, a laboratory search of these alterations is recommended in patients with SVT, because it allows the identification of patients at high risk of DVT in whom antithrombotic prophylaxis is particularly warranted.

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Masuda, Junichi, Toru Nabika, and Yoshitomo Notsu. "Silent stroke: pathogenesis, genetic factors and clinical implications as a risk factor." Current Opinion in Neurology 14, no. 1 (February 2001): 77–82. http://dx.doi.org/10.1097/00019052-200102000-00012.

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Mailaparambil, Beena, Marcus Krueger, Ulrike Heizmann, Katharina Schlegel, Jessica Heinze, and Andrea Heinzmann. "Genetic and Epidemiological Risk Factors in the Development of Bronchopulmonary Dysplasia." Disease Markers 29, no. 1 (2010): 1–9. http://dx.doi.org/10.1155/2010/925940.

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Bronchopulmonary dysplasia (BPD) is the chronic lung disease of preterm infants and still represents a major burden of prematurity. Several clinical risk factors for the onset of the disease are already known. In addition, some candidate genes have recently been identified. We set out to determine clinical as well as genetic risk factors for the development of BPD in the German population.155 infants born with a gestational age ࣘ 28 at the tertiary neonatal Centre, Freiburg, were recruited. Clinical data were recorded from hospital charts. 47 children developed moderate or severe BPD. For genetic analyses, 37 polymorphisms within sixteen genes were genotyped on all children.The strongest epidemiological risk factor for BPD was birth weight, followed by low gestational age. Genetic association was detected with single polymorphisms within Tumour necrosis factor alpha, Toll like receptor 10 and vascular endothelial growth factor. The former two genes showed also association with BPD in haplotype analyses. In conclusion, association of BPD was far more convincingly found with a few clinical factors than with genetic polymorphisms. This underscores the genetic complexity of the disease. Furthermore, the identification of predisposing genetic polymorphisms might be hampered by the complex interaction between clinical and genetic factors.

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Biguzzi, Eugenia, Filippo Castelli, Willem M. Lijfering, Suzanne C. Cannegieter, Jeroen Eikenboom, Frits R. Rosendaal, and Astrid van Hylckama Vlieg. "Rise of levels of von Willebrand factor and factor VIII with age: Role of genetic and acquired risk factors." Thrombosis Research 197 (January 2021): 172–78. http://dx.doi.org/10.1016/j.thromres.2020.11.016.

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24

Kim, Hyerim, Junghwa Lim, Han Bao, Bin Jiao, Se Min Canon, Michael P. Epstein, Keqin Xu, et al. "Rare variants in MYH15 modify amyotrophic lateral sclerosis risk." Human Molecular Genetics 28, no. 14 (April 1, 2019): 2309–18. http://dx.doi.org/10.1093/hmg/ddz063.

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Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive muscular atrophy and respiratory failure. The G4C2 repeat expansion in the C9orf72 gene is the most prevalent genetic risk for ALS. Mutation carriers (C9ALS) display variability in phenotypes such as age-at-onset and duration, suggesting the existence of additional genetic factors. Here we introduce a three-step gene discovery strategy to identify genetic factors modifying the risk of both C9ALS and sporadic ALS (sALS) using limited samples. We first identified 135 candidate genetic modifiers of C9ALS using whole-genome sequencing (WGS) of extreme C9ALS cases diagnosed ~30 years apart. We then performed an unbiased genetic screen using a Drosophila model of the G4C2 repeat expansion with the genes identified from WGS analysis. This genetic screen identified the novel genetic interaction between G4C2 repeat-associated toxicity and 18 genetic factors, suggesting their potential association with C9ALS risk. We went on to test if 14 out of the 18 genes, those which were not known to be risk factors for ALS previously, are also associated with ALS risk in sALS cases. Gene-based-statistical analyses of targeted resequencing and WGS were performed. These analyses together reveal that rare variants in MYH15 represent a likely genetic risk factor for ALS. Furthermore, we show that MYH15 could modulate the toxicity of dipeptides produced from expanded G4C2 repeat. Our study presented here demonstrates the power of combining WGS with fly genetics to facilitate the discovery of fundamental genetic components of complex traits with a limited number of samples.

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Stepler, Kaitlyn E., Taneisha R. Gillyard, Calla B. Reed, Tyra M. Avery, Jamaine S. Davis, and Renã A. S. Robinson. "ABCA7, a Genetic Risk Factor Associated with Alzheimer’s Disease Risk in African Americans." Journal of Alzheimer's Disease 86, no. 1 (March 8, 2022): 5–19. http://dx.doi.org/10.3233/jad-215306.

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African American/Black adults are twice as likely to have Alzheimer’s disease (AD) compared to non-Hispanic White adults. Genetics partially contributes to this disparity in AD risk, among other factors, as there are several genetic variants associated with AD that are more prevalent in individuals of African or European ancestry. The phospholipid-transporting ATPase ABCA7 (ABCA7) gene has stronger associations with AD risk in individuals with African ancestry than in individuals with European ancestry. In fact, ABCA7 has been shown to have a stronger effect size than the apolipoprotein E (APOE) ɛ4 allele in African American/Black adults. ABCA7 is a transmembrane protein involved in lipid homeostasis and phagocytosis. ABCA7 dysfunction is associated with increased amyloid-beta production, reduced amyloid-beta clearance, impaired microglial response to inflammation, and endoplasmic reticulum stress. This review explores the impact of ABCA7 mutations that increase AD risk in African American/Black adults on ABCA7 structure and function and their contributions to AD pathogenesis. The combination of biochemical/biophysical and ‘omics-based studies of these variants needed to elucidate their downstream impact and molecular contributions to AD pathogenesis is highlighted.

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Horne, McDonald K., and Donna Jo McCloskey. "Factor V Leiden as a Common Genetic Risk Factor for Venous Thromboembolism." Journal of Nursing Scholarship 38, no. 1 (March 2006): 19–25. http://dx.doi.org/10.1111/j.1547-5069.2006.00072.x.

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Chairta, Paraskevi P., Andreas Hadjisavvas, Andrea N. Georgiou, Maria A. Loizidou, Kristia Yiangou, Christiana A. Demetriou, Yiolanda P. Christou, Marios Pantziaris, Kyriaki Michailidou, and Eleni Zamba-Papanicolaou. "Prediction of Parkinson’s Disease Risk Based on Genetic Profile and Established Risk Factors." Genes 12, no. 8 (August 20, 2021): 1278. http://dx.doi.org/10.3390/genes12081278.

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Background: Parkinson’s disease (PD) is a neurodegenerative disorder, and literature suggests that genetics and lifestyle/environmental factors may play a key role in the triggering of the disease. This study aimed to evaluate the predictive performance of a 12-Single Nucleotide Polymorphisms (SNPs) polygenic risk score (PRS) in combination with already established PD-environmental/lifestyle factors. Methods: Genotypic and lifestyle/environmental data on 235 PD-patients and 464 controls were obtained from a previous study carried out in the Cypriot population. A PRS was calculated for each individual. Univariate logistic-regression analysis was used to assess the association of PRS and each risk factor with PD-status. Stepwise-regression analysis was used to select the best predictive model for PD combining genetic and lifestyle/environmental factors. Results: The 12-SNPs PRS was significantly increased in PD-cases compared to controls. Furthermore, univariate analyses showed that age, head injury, family history, depression, and Body Mass Index (BMI) were significantly associated with PD-status. Stepwise-regression suggested that a model which includes PRS and seven other independent lifestyle/environmental factors is the most predictive of PD in our population. Conclusions: These results suggest an association between both genetic and environmental factors and PD, and highlight the potential for the use of PRS in combination with the classical risk factors for risk prediction of PD.

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Weng, Lu-Chen, Sarah R. Preis, Olivia L. Hulme, Martin G. Larson, Seung Hoan Choi, Biqi Wang, Ludovic Trinquart, et al. "Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation." Circulation 137, no. 10 (March 6, 2018): 1027–38. http://dx.doi.org/10.1161/circulationaha.117.031431.

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Carulli, Lucia. "Telomere shortening as genetic risk factor of liver cirrhosis." World Journal of Gastroenterology 21, no. 2 (2015): 379. http://dx.doi.org/10.3748/wjg.v21.i2.379.

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Gallone, Salvatore, Silvia Boschi, Elisa Rubino, Paola De Martino, Elio Scarpini, Daniela Galimberti, Chiara Fenoglio, et al. "Is HCRTR2 a Genetic Risk Factor for Alzheimer's Disease?" Dementia and Geriatric Cognitive Disorders 38, no. 3-4 (2014): 245–53. http://dx.doi.org/10.1159/000359964.

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Kotyuk, Eszter, Viktor Biro, Julianna Bircher, Zsuzsanna Elek, Maria Sasvari, and Anna Szekely. "ABCA1 Polymorphism, a Genetic Risk Factor of Harm Avoidance." Journal of Individual Differences 38, no. 3 (July 2017): 189–95. http://dx.doi.org/10.1027/1614-0001/a000235.

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Abstract. Even though cholesterol homeostasis and self-harm behaviors have shown to be associated, gene polymorphisms of the cholesterol system have not been studied yet in the context of self-harm related personality traits. Here we present an association study between six ABCA1 polymorphisms and temperament scales measured by Cloninger’s Temperament and Character Inventory on 253 young adults. An association between ABCA1 rs4149264 and harm avoidance has been observed. This association remained significant after Bonferroni correction. Haplotype analysis confirmed an independent association between rs4149264 and harm avoidance. ABCA1, a cholesterol homeostasis gene, is a candidate gene for harm related personality traits.

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Watanabe, Takehiro, Yi-Qiang Liang, Hyoe Inomata, Kazuyuki Yanai, Yoko Iizuka, Takanari Gotoda, and Norihiro Kato. "Genetic analysis of multiple risk factor syndrome in rats." Journal of the American College of Cardiology 41, no. 6 (March 2003): 276. http://dx.doi.org/10.1016/s0735-1097(03)82297-0.

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Nelen, Willianne LDM, Eric AP Steegers, Tom KAB Eskes, and Henk J. Blom. "Genetic risk factor for unexplained recurrent early pregnancy loss." Lancet 350, no. 9081 (September 1997): 861. http://dx.doi.org/10.1016/s0140-6736(97)24038-9.

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Cunha, Madalena, Graça Aparício, João Duarte, Anabela Pereira, Carlos Albuquerque, and António Oliveira. "Genetic heritage as a risk factor enabling chilhood obesity." Atención Primaria 45 (May 2013): 201–7. http://dx.doi.org/10.1016/s0212-6567(13)70023-4.

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35

Jones, Rachel. "Genetic risk factor identified for cystic fibrosis liver disease." Nature Reviews Gastroenterology & Hepatology 6, no. 11 (November 2009): 627. http://dx.doi.org/10.1038/nrgastro.2009.171.

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Gabriel, Carmen Comas, Margarita Torrents Muns, Ana Munoz Prades, Ignacio Rodriguez Garcia, and Bernat Serra Zantop. "468: Genetic amniocentesis: a risk factor for preterm delivery?" American Journal of Obstetrics and Gynecology 204, no. 1 (January 2011): S187. http://dx.doi.org/10.1016/j.ajog.2010.10.487.

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Kueppers, Friedrich. "AATD as a genetic risk factor for aneurysmal disease." Lancet 402, no. 10413 (November 2023): 1625–26. http://dx.doi.org/10.1016/s0140-6736(23)01747-6.

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Krug, Tiago, Helena Manso, Liliana Gouveia, João Sobral, Joana M. Xavier, Isabel Albergaria, Gisela Gaspar, et al. "Kalirin: a novel genetic risk factor for ischemic stroke." Human Genetics 127, no. 5 (January 28, 2010): 513–23. http://dx.doi.org/10.1007/s00439-010-0790-y.

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Simmonds, Rachel, José Hermida, Suely Rezende, and David Lane. "Haemostatic Genetic Risk Factors in Arterial Thrombosis." Thrombosis and Haemostasis 86, no. 07 (2001): 374–85. http://dx.doi.org/10.1055/s-0037-1616235.

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SummaryHaemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the study of haemostatic polymorphisms as risk factors has grown in popularity. Once established as a risk factor, a genetic polymorphism has the potential to aid selective prophylaxis and therapy of disease. Numerous reports have now been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platelet membrane glycoprotein receptors. This article describes the polymorphisms and evaluates the results of these studies using the premises of consistency of within-report genotype/phenotype/disease relationships and consistency of outcome between studies. Many studies have been only of association between polymorphisms and disease, a type of study that is prone to error. Furthermore, the collective outcome of these studies has primarily been inconsistent. It is concluded that despite the early promise of polymorphisms as risk factors, fresh approaches differing in scale and design are now required to clarify their possible importance.

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Gurung, Rajya L., Liesel M. FitzGerald, Bennet J. McComish, Nitin Verma, and Kathryn P. Burdon. "Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment." Journal of Diabetes Research 2020 (November 12, 2020): 1–12. http://dx.doi.org/10.1155/2020/5016916.

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Diabetic retinopathy (DR) is the most common microvascular complication of diabetes mellitus (DM). DR is complex and the term encompasses several clinical subtypes of diabetic eye disease, including diabetic macular edema (DME), the most frequent cause of central vision loss in DR patients. Both genetic and environmental factors contribute to the pathophysiology of DR and its subtypes. While numerous studies have identified several susceptibility genes for DR, few have investigated the impact of genetics on DME susceptibility. This review will focus on the current literature surrounding genetic risk factors associated with DME. We will also highlight the small number of studies investigating the genetics of response to antivascular endothelial growth factor (anti-VEGF) injection, which is used to treat DME.

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Morales de Machín, Alisandra, Karelis Urdaneta, Lisbeth Borjas, Karile Méndez, Enrique Machín, and Ana Bracho. "Factores de riesgo genético y diagnóstico prenatal." Revista de Obstetricia y Ginecología de Venezuela 81, no. 03 (September 25, 2021): 209–25. http://dx.doi.org/10.51288/00810305.

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Objective: To identify genetic risk factors and frequency and to describe congenital defects of the fetus. Methods: The research was conducted at the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. We studied patients who attend to the prenatal genetic clinic. According to the Genetic risk factors Identified, it indicated different prenatal diagnostic procedures: fetal echography, fetal echocardiography, triple maternal serum marker, amniocentesis for fetal karyotype and molecular analysis. Results: We included 568 patients. 79.05% of the total showed only one genetic risk factor and the 20.95% two or more. The advanced maternal age was the most frequent genetic risk factor found (40.85%), followed by first-degree family history with a congenital defect (35.21%), abnormal fetal echography (13.73%), exposure to teratogenic agents (10.39%), history of recurrent abortion (7.04%), history of fetal death (4.22%), consanguinity (1.93%), and history of neonatal death (1.76%). They were diagnosed 101 fetuses with congenital defects, one balanced translocation, two fetal deaths and 26 spontaneous abortions. Conclusion: The genetic risk factors identification, served as a starting point to indicate prenatal diagnostic procedures allowed a health evaluation of the fetus and adequate genetic counseling. Key words: Prenatal diagnosis, Risk factors, Genetic counseling.

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Walter, S., M. M. Glymour, K. Koenen, L. Liang, E. J. Tchetgen Tchetgen, M. Cornelis, S. C. Chang, et al. "Do genetic risk scores for body mass index predict risk of phobic anxiety? Evidence for a shared genetic risk factor." Psychological Medicine 45, no. 1 (May 28, 2014): 181–91. http://dx.doi.org/10.1017/s0033291714001226.

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BackgroundObesity and anxiety are often linked but the direction of effects is not clear.MethodUsing genetic instrumental variable (IV) analyses in 5911 female participants from the Nurses' Health Study (NHS, initiated 1976) and 3697 male participants from the Health Professional Follow-up Study (HPFS, initiated 1986), we aimed to determine whether obesity increases symptoms of phobic anxiety. As instrumental variables we used the fat mass and obesity-associated (FTO) gene, the melanocortin 4 receptor (MC4R) gene and a genetic risk score (GRS) based on 32 single nucleotide polymorphisms (SNPs) that significantly predict body mass index (BMI). ‘Functional’ GRSs corresponding with specific biological pathways that shape BMI (adipogenesis, appetite and cardiopulmonary) were considered. The main outcome was phobic anxiety measured by the Crown Crisp Index (CCI) in 2004 in the NHS and in 2000 in the HPFS.ResultsIn observational analysis, a 1-unit higher BMI was associated with higher phobic anxiety symptoms [women:β = 0.05, 95% confidence interval (CI) 0.030–0.068; men:β = 0.04, 95% CI 0.016–0.071). IV analyses showed that BMI was associated with higher phobic anxiety symptoms in theFTO-instrumented analysis (p = 0.005) but not in the GRS-instrumented analysis (p = 0.256). Functional GRSs showed heterogeneous, non-significant effects of BMI on phobic anxiety symptoms.ConclusionsOur findings do not provide conclusive evidence in favor of the hypothesis that higher BMI leads to higher levels of phobic anxiety, but rather suggest that genes that influence obesity, in particularFTO, may have direct effects on phobic anxiety, and hence that obesity and phobic anxiety may share common genetic determinants.

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Ginsburg, David. "Genetic Modifiers of Thrombosis in Mice." Blood 114, no. 22 (November 20, 2009): SCI—44—SCI—44. http://dx.doi.org/10.1182/blood.v114.22.sci-44.sci-44.

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Abstract Abstract SCI-44 The genetic factors responsible for the highly variable clinical course of inherited bleeding disorders including von Willebrand disease and hemophilia are largely unknown. Similar factors are also likely to contribute to the variability of common thrombotic disorders, including factor V Leiden. Studies by our lab over the past 10 years have used the power of mouse genetics to identify genes contributing to this variability (referred to as ‘modifier‘ genes). By performing genetic crosses between inbred strains of mice with elevated plasma levels of von Willebrand Factor (VWF) and other strains with low levels, we have mapped a total of 6 genetic factors contributing to the control of murine plasma VWF levels. Similar studies in ADAMTS13-deficient mice are in progress aimed at characterizing genes modifying susceptibility thrombotic thrombocytopenic purpura. We have also conducted large scale mutagenesis studies in the mouse in an effort to identify larger numbers of genes contributing to thrombosis risk in the setting of Factor V Leiden, and most recently are extending this approach to similar genetic screens in zebrafish. Finally, recent advances in human genetics are expanding the potential opportunities for directly identifying bleeding and thrombosis modifier genes in humans. Disclosures No relevant conflicts of interest to declare.

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Farré, Xavier, Roderic Espín, Alexandra Baiges, Eline Blommaert, Wonji Kim, Krinio Giannikou, Carmen Herranz, et al. "Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function." ERJ Open Research 8, no. 1 (October 28, 2021): 00375–2021. http://dx.doi.org/10.1183/23120541.00375-2021.

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IntroductionLymphangioleiomyomatosis (LAM) is a rare low-grade metastasising disease characterised by cystic lung destruction. The genetic basis of LAM remains incompletely determined, and the disease cell-of-origin is uncertain. We analysed the possibility of a shared genetic basis between LAM and cancer, and LAM and pulmonary function.MethodsThe results of genome-wide association studies of LAM, 17 cancer types and spirometry measures (forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), FEV1/FVC ratio and peak expiratory flow (PEF)) were analysed for genetic correlations, shared genetic variants and causality. Genomic and transcriptomic data were examined, and immunodetection assays were performed to evaluate pleiotropic genes.ResultsThere were no significant overall genetic correlations between LAM and cancer, but LAM correlated negatively with FVC and PEF, and a trend in the same direction was observed for FEV1. 22 shared genetic variants were uncovered between LAM and pulmonary function, while seven shared variants were identified between LAM and cancer. The LAM-pulmonary function shared genetics identified four pleiotropic genes previously recognised in LAM single-cell transcriptomes: ADAM12, BNC2, NR2F2 and SP5. We had previously associated NR2F2 variants with LAM, and we identified its functional partner NR3C1 as another pleotropic factor. NR3C1 expression was confirmed in LAM lung lesions. Another candidate pleiotropic factor, CNTN2, was found more abundant in plasma of LAM patients than that of healthy women.ConclusionsThis study suggests the existence of a common genetic aetiology between LAM and pulmonary function.

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Ginsburg, David. "Genetic Risk Factors for Arterial Thrombosis and Inflammation." Hematology 2005, no. 1 (January 1, 2005): 442–44. http://dx.doi.org/10.1182/asheducation-2005.1.442.

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Abstract Arterial thrombosis is a central pathologic mechanism contributing to myocardial infarction and stroke, together the leading causes of death in developed countries. This article reviews the current state of knowledge concerning the role of inherited variation in hemostatic and inflammatory factor genes in determining the risk of arterial thrombosis/ischemic heart disease. Despite considerable progress in identifying important genetic risk factors underlying predisposition to venous thrombosis, the genetic factors contributing to the risk for arterial thrombosis remain largely unknown. However, the rapid development of powerful new genomic resources should facilitate considerably more sophisticated analyses, leading to novel insight into the molecular pathophysiology of this important set of human diseases.

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Meißner, Lisa, Peter Schürmann, Thilo Dörk, Lars Hagemeier, and Michael Klintschar. "Genetic association study of fatal pulmonary embolism." International Journal of Legal Medicine 135, no. 1 (October 30, 2020): 143–51. http://dx.doi.org/10.1007/s00414-020-02441-7.

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AbstractPulmonary embolism (PE) is a complex multi-factorial disease and represents one manifestation of venous thromboembolism (VTE). Most commonly PE constitutes a complication of VTE’s other clinical presentation deep vein thrombosis (DVT). The majority of studies concerning risk factors do not distinguish between PE and DVT. The risk factors are often estimated to be alike, but the prevalence and the risk associated with the major genetic factor Factor V Leiden differ between the two disease states. We have investigated the association of 22 SNPs with PE in 185 PE case and 375 healthy control subjects. At p = 0.05, eight SNPs presented with nominally significant evidence of association (EOA), although no significantly different genotype distributions remained between cases and controls after Bonferroni correction. Three of these variants (rs1800790, rs3813948, rs6025) showed EOA in the main analysis, and five variants (rs169713, rs1801131, rs4524, rs5985 and rs8176592) demonstrated EOAs in subgroups. Genomic variation modulating Factor V, Factor XIII, Beta fibrinogen (FGB), TFPI or HIVEP1 should be worth to be followed in subsequent studies. The findings of this study support the view that PE represents a complex disease with many factors contributing relatively small effects. Larger sample sizes will be required to reliably detect these small effects.

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Sutin, Angelina R., Yannick Stephan, Martina Luchetti, and Antonio Terracciano. "Loneliness and Risk of Dementia." Journals of Gerontology: Series B 75, no. 7 (October 26, 2018): 1414–22. http://dx.doi.org/10.1093/geronb/gby112.

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Abstract Objective The present study tests whether loneliness is associated with risk of dementia in the largest sample to date and further examines whether the association is independent of social isolation, a related but independent component of social integration, and whether it varies by demographic factors and genetic vulnerability. Method Participants from the Health and Retirement Study (N = 12,030) reported on their loneliness, social isolation, and had information on clinical, behavioral, and genetic risk factors. Cognitive status was assessed at baseline and every 2 years over a 10-year follow-up with the modified Telephone Interview for Cognitive Status (TICSm). A TICSm score of 6 or less was indicative of dementia. Results Cox proportional hazards regression indicated that loneliness was associated with a 40% increased risk of dementia. This association held controlling for social isolation, and clinical, behavioral, and genetic risk factors. The association was similar across gender, race, ethnicity, education, and genetic risk. Discussion Loneliness is associated with increased risk of dementia. It is one modifiable factor that can be intervened on to reduce dementia risk.

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Kendler, K. S., C. O. Gardner, P. Annas, and P. Lichtenstein. "The development of fears from early adolesence to young adulthood: a multivariate study." Psychological Medicine 38, no. 12 (February 25, 2008): 1759–69. http://dx.doi.org/10.1017/s0033291708002936.

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BackgroundCommon fears change over development. Genetic and environmental risk factors for fears are partly shared across fears and partly fear-specific. The nature of the changes in common and fear-specific genetic and environmental risk factors over time is unknown.MethodSelf-reported fears were obtained at ages 13–14, 16–17 and 19–20 from 2404 twins in the Swedish Twin Study of Child and Adolescent Development. A multivariate longitudinal twin analysis was conducted with Mx.ResultsEighteen individual items formed four fear factors: animal, blood-injury, situational, and social. The best-fit model had no quantitative or qualitative sex effects or shared environmental effects, but included a strong common factor with a stable cross-time structure with highest loadings on situational and lowest loadings on social fears. New common and fear-specific genetic risk factors emerged over development. With increasing age, genetic effects declined in overall importance and became more fear-specific. Cross-time continuity in specific genetic effects was highest for animal and lowest for social fears. Social fears had a ‘burst’ of specific genetic effects in late adolescence. Individual-specific environmental factors impacted both on the general fear factor and on specific fears. Compared to genetic effects, the impact of the unique environment was more time-specific.ConclusionsGenetic and environmental risk factors for individual fears are partly mediated through a common fear factor and are partly fear-specific in their effect. The developmental pattern of these risk factors is complex and dynamic with new common and specific genetic effects arising in late adolescence and early adulthood.

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Ardissino, D., P. M. Mannucci, P. A. Merlini, F. Duca, R. Fetiveau, L. Tagliabue, M. Tubaro, et al. "Prothrombotic Genetic Risk Factors in Young Survivors of Myocardial Infarction." Blood 94, no. 1 (July 1, 1999): 46–51. http://dx.doi.org/10.1182/blood.v94.1.46.413a27_46_51.

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It has long been thought that an individual thrombotic tendency increases the risk of myocardial infarction, especially in young adults. Several “prothrombotic” genetic factors that may influence the individual thrombotic risk have been identified. To investigate the association between the risk of myocardial infarction at a young age and genetic factors thought to be associated with an increased tendency to thrombosis (the polymorphisms 4G/5G of the PAI-1 gene, PIA1/PIA2 of the platelet glycoprotein IIIa, C3550T of the platelet glycoprotein Ib gene, G10976A of the factor VII gene, C677T of the methylenetetrahydrofolate reductase gene, G1691A of the factor V gene, and G20210A of the prothrombin gene), we performed a case-control study evaluating 200 survivors (185 men, 15 women) of myocardial infarction who had experienced the event before the age of 45 years and 200 healthy subjects with a negative exercise test, individually matched for sex, age, and geographic origin with the cases. The presence of the PIA2 polymorphic allele was the only prothrombotic genetic factor associated with the risk of myocardial infarction at a young age. The odds ratio for carriers of the PIA2 allele compared with those of the PIA1 allele was 1.84 (95% confidence intervals (CI) 1.12 to 3.03). There was a significant interaction between the presence of the PIA2 allele and smoking: with their simultaneous presence, 46% (95% confidence intervals 11% to 81%) of premature myocardial infarctions were attributable to the interaction between the two factors. In conclusion, carrying the PIA2 polymorphic allele of platelet glycoprotein IIIa was the only genetic prothrombotic factor associated with the risk of developing myocardial infarction at a young age. The clinical expression of this genetic predisposition seems to be enhanced by smoking.

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Roberts, Robert, and Alexandre F. R. Stewart. "9p21 and the Genetic Revolution for Coronary Artery Disease." Clinical Chemistry 58, no. 1 (January 1, 2012): 104–12. http://dx.doi.org/10.1373/clinchem.2011.172759.

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Abstract BACKGROUND It has long been recognized that 50% of the susceptibility for coronary artery disease (CAD) is due to predisposing genetic factors. Comprehensive prevention is likely to require knowledge of these genetic factors. CONTENT Using a genomewide association study (GWAS), the Ottawa Heart Genomic Study and the deCODE group simultaneously identified the first genetic risk variant, at chromosome 9p21. The 9p21 variant became the first risk factor to be identified since 1964. 9p21 occurs in 75% of the population except for African Americans and is associated with a 25% increased risk for CAD with 1 copy and a 50% increased risk with 2 copies. Perhaps the most remarkable finding is that 9p21 is independent of all known risk factors, indicating there are factors contributing to the pathogenesis of CAD that are yet unknown. 9p21 in individuals with premature CAD is associated with a 2-fold increase in risk, similar to that of smoking and cholesterol. Routine genetic testing will probably remain controversial until a specific treatment is developed. Over a period of 5 years, however, GWASs have identified 30 genetic variants for CAD risk, of which only 6 act through the known risk factors. SUMMARY The 9p21 variant has now been established as an independent risk factor for CAD and, along with the additional 29 risk genetic variants recently identified, is likely to provide the thrust for genetic testing and personalized medicine in the near future.

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