Journal articles: 'Diseases - genetic mapping'

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Smith, M. J., and P. N. Goodfellow. "Gene mapping and genetic diseases." Current Opinion in Cell Biology 1, no. 3 (June 1989): 460–65. http://dx.doi.org/10.1016/0955-0674(89)90006-9.

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Mynett-Johnson, Lesley A., and Patrick McKeon. "The molecular genetics of affective disorders: An overview." Irish Journal of Psychological Medicine 13, no. 4 (December 1996): 155–61. http://dx.doi.org/10.1017/s0790966700004444.

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AbstractObjective: Genetic mapping, the method of comparing an inheritance pattern of a disease to that of a chromosomal region, has brought about a revolution in the field of human inherited diseases. Diseases which exhibit a more complex pattern of inheritance now afford the next challange in the application of genetic mapping to the field of human disease. This article aims to review the application of genetic mapping to affective disorders.Method: Review of literature concerning the molecular genetics of affective disorders.Findings: This article describes the evidence for a genetic role in affective disorders, reviews the research to date and describes the difficulties arising out of the complex nature of these disorders.Conclusions: Although progress to date in psychiatric genetics has been somewhat disappointing, the combined approach of using all the genetic tools currently available on large collections of affected individuals and families should enable the genetic basis of affective disorders to be identified.

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Afanasenko, Olga S., and Kapiton V. Novozhilov. "Problems of rational use of genetic resources of plants resistance to diseases." Ecological genetics 7, no. 2 (June 15, 2009): 38–43. http://dx.doi.org/10.17816/ecogen7238-43.

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The decision of a complex problem of rational use of plants genetic resources of resistance to diseases is based on principles of maintenance of a genetic diversity of resistance. The development of methodology of grain crops breeding with durable resistance to diseases is based on knowledge of evolutionary potential of most harmful pathogens and genetics of host-pathogen interactions. For molecular mapping of genes determined barley resistance to net blotch, spot blotch and scald double haploid barley populations were developed. Molecular mapping of genomes both plants and pathogens will promote the development of DNa- technologies in plant breeding.

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Suarez-Pajes, Eva, Ana Díaz-de Usera, Itahisa Marcelino-Rodríguez, Beatriz Guillen-Guio, and Carlos Flores. "Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases." International Journal of Molecular Sciences 22, no. 13 (June 28, 2021): 6962. http://dx.doi.org/10.3390/ijms22136962.

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Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. In this review article, we summarize the most common methods of global and local genetic ancestry estimation and discuss the use of admixture mapping studies in human diseases.

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Ommen, G. J. B. van, and P. L. Pearson. "Long-range mapping in the research and diagnosis of genetic disease." Genome 31, no. 2 (January 15, 1989): 730–36. http://dx.doi.org/10.1139/g89-131.

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This paper reviews current genetic and molecular biological methods that may be used in the so-called "reverse genetics" approach. These methods are the mapping, isolation, and study of the chromosomal DNA containing a previously unidentified gene responsible for a genetic disease, beginning with its chromosomal localization. In principle, the reverse genetics methodology follows the same path for different diseases studied. An overall outline of the steps to be undertaken is given and discussed. Several stages are illustrated with reference to current research in the fields of Duchenne muscular dystrophy, Huntington's disease, and polycystic kidney disease.Key words: human genetic disease, Duchenne muscular dystrophy, Huntington disease, polycystic kidney disease, reverse genetics.

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Casals, Ferran, Youssef Idaghdour, Julie Hussin, and Philip Awadalla. "Next-generation sequencing approaches for genetic mapping of complex diseases." Journal of Neuroimmunology 248, no. 1-2 (July 2012): 10–22. http://dx.doi.org/10.1016/j.jneuroim.2011.12.017.

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Bulayeva, Kazima B., Suzanne M. Leal, Tatiana A. Pavlova, Ruslan M. Kurbanov, Stephen J. Glatt, Oleg A. Bulayev, and Ming T. Tsuang. "Mapping genes of complex psychiatric diseases in Daghestan genetic isolates." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 132B, no. 1 (2004): 76–84. http://dx.doi.org/10.1002/ajmg.b.30073.

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Houwing-Duistermaat, Jeanine J., and Robert C. Elston. "Linkage Disequilibrium Mapping of Complex Genetic Diseases Using Multiallelic Markers." Genetic Epidemiology 21, S1 (2001): S576—S581. http://dx.doi.org/10.1002/gepi.2001.21.s1.s576.

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Shulman, Eldad David, and Ran Elkon. "Genetic mapping of developmental trajectories for complex traits and diseases." Computational and Structural Biotechnology Journal 19 (2021): 3458–69. http://dx.doi.org/10.1016/j.csbj.2021.05.055.

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Dominiczak, AF, and K. Lindpaintner. "Genetics of Hypertension: A Current Appraisal." Physiology 9, no. 6 (December 1, 1994): 246–51. http://dx.doi.org/10.1152/physiologyonline.1994.9.6.246.

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Recent advances in molecular genetics have made it possible to approach the study of complex polygenic multifactorial diseases such as hypertension. Two major approaches, the candidate gene and genetic mapping, have been used to investigate models of genetic hypertension in the rat.

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Xu, Shizhong, and William R. Atchley. "Mapping Quantitative Trait Loci for Complex Binary Diseases Using Line Crosses." Genetics 143, no. 3 (July 1, 1996): 1417–24. http://dx.doi.org/10.1093/genetics/143.3.1417.

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Abstract A composite interval gene mapping procedure for complex binary disease traits is proposed in this paper. The binary trait of interest is assumed to be controlled by an underlying liability that is normally distributed. The liability is treated as a typical quantitative character and thus described by the usual quantitative genetics model. Translation from the liability into a binary (disease) phenotype is through the physiological threshold model. Logistic regression analysis is employed to estimate the effects and locations of putative quantitative trait loci (our terminology for a single quantitative trait locus is QTL while multiple loci are referred to as QTLs). Simulation studies show that properties of this mapping procedure mimic those of the composite interval mapping for normally distributed data. Potential utilization of the QTL mapping procedure for resolving alternative genetic models (e.g., single- or two-trait-locus model) is discussed.

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Einarsdottir, Elisabet, Inez Egerbladh, Lars Beckman, Dan Holmberg, and Stefan A. Escher. "The genetic population structure of northern Sweden and its implications for mapping genetic diseases." Hereditas 144, no. 5 (September 11, 2007): 171–80. http://dx.doi.org/10.1111/j.2007.0018-0661.02007.x.

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Shearman, Jeremy R., and Alan N. Wilton. "Origins of the Domestic Dog and the Rich Potential for Gene Mapping." Genetics Research International 2011 (January 17, 2011): 1–6. http://dx.doi.org/10.4061/2011/579308.

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The unique breeding structure of the domestic dog makes canine genetics a useful tool to further the understanding of inherited diseases and gene function. Answers to the questions of when and where the dog was domesticated from the wolf are uncertain, but how the modern diversity of dog breeds was developed is documented. Breed development has resulted in many genetically isolated populations which are segregating for different alleles for disease and morphological and behavioral traits. Many genetic tools are available for dog research allowing investigation into the genetic basis of these phenotypes. Research into causes of diseases in dogs is relevant to humans and other species; comparative genomics is being used to transfer genetic information to them, including some studies on morphological and behavioral phenotypes. Because of the unique breed structure and well-maintained pedigrees, dogs represent a model organism containing a wealth of genetic information.

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Anderson, Timothy J. C., Philip T. LoVerde, Winka Le Clec’h, and Frédéric D. Chevalier. "Genetic Crosses and Linkage Mapping in Schistosome Parasites." Trends in Parasitology 34, no. 11 (November 2018): 982–96. http://dx.doi.org/10.1016/j.pt.2018.08.001.

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Collins, Andrew, Winston Lau, and Francisco M. De La Vega. "Mapping Genes for Common Diseases: The Case for Genetic (LD) Maps." Human Heredity 58, no. 1 (2004): 2–9. http://dx.doi.org/10.1159/000081451.

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Mitchell-Olds, T. "Interval mapping of viability loci causing heterosis in Arabidopsis." Genetics 140, no. 3 (July 1, 1995): 1105–9. http://dx.doi.org/10.1093/genetics/140.3.1105.

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Abstract The genetic basis of heterosis has implications for many problems in genetics and evolution. Heterosis and inbreeding depression affect human genetic diseases, maintenance of genetic variation, evolution of breeding systems, agricultural productivity, and conservation biology. Despite decades of theoretical and empirical studies, the genetic basis of heterosis has remained unclear. I mapped viability loci contributing to heterosis in Arabidopsis. An overdominant factor with large effects on viability mapped to a short interval on chromosome I. Homozygotes had 50% lower viability than heterozygotes in this chromosomal region. Statistical analysis of viability data in this cross indicates that observed viability heterosis is better explained by functional overdominance than by pseudo-overdominance. Overdominance sometimes may be an important cause of hybrid vigor, especially in habitually inbreeding species. Finally, I developed a maximum likelihood interval mapping procedure that can be used to examine chromosomal regions showing segregation distortion or viability selection.

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KIMMEL, MAREK. "WHY MATHEMATICS IS NEEDED TO UNDERSTAND COMPLEX GENETICS DISEASES." Journal of Biological Systems 10, no. 04 (December 2002): 359–80. http://dx.doi.org/10.1142/s0218339002000688.

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We discuss mathematical approaches to population genetics and evolutionary theory in the context of complex genetic disease. Mechanisms, which we discuss, include gene-environment interaction in lung cancer as well as classical mechanisms of stabilization of genetic disease such as overdominance, antagonistic pleiotropy and recurring mutations. Specific modeling approaches discussed include: (1) Mathematical model of the evolution of disease chromosome applied to mapping of a disease gene. (2) Iterated Galton–Watson branching process applied to modeling of trinucleotide expansion in triplet-repeat diseases. (3) Application of Ewens' sampling formula to analysis of Single Nucleotide Polymorphism haplotypes at disease-related genes. The aim of this paper is not to present an exhaustive review, but rather to advocate mathematical modeling approaches in a field of current interest.

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Kane, Melissa, and Tatyana V. Golovkina. "Mapping Viral Susceptibility Loci in Mice." Annual Review of Virology 6, no. 1 (September 29, 2019): 525–46. http://dx.doi.org/10.1146/annurev-virology-092818-015544.

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Genetic alleles that contribute to enhanced susceptibility or resistance to viral infections and virally induced diseases have often been first identified in mice before humans due to the significant advantages of the murine system for genetic studies. Herein we review multiple discoveries that have revealed significant insights into virus-host interactions, all made using genetic mapping tools in mice. Factors that have been identified include innate and adaptive immunity genes that contribute to host defense against pathogenic viruses such as herpes viruses, flaviviruses, retroviruses, and coronaviruses. Understanding the genetic mechanisms that affect infectious disease outcomes will aid the development of personalized treatment and preventive strategies for pathogenic infections.

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Su, Xin-zhuan, Hongying Jiang, Ming Yi, Jianbing Mu, and Robert M. Stephens. "Large-scale Genotyping and Genetic Mapping in Plasmodium Parasites." Korean Journal of Parasitology 47, no. 2 (2009): 83. http://dx.doi.org/10.3347/kjp.2009.47.2.83.

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Liu, Chunyu. "Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases." Neuroscience Bulletin 27, no. 2 (April 2011): 123–33. http://dx.doi.org/10.1007/s12264-011-1203-5.

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Puffenberger, Erik G., Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, et al. "Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases." PLoS ONE 7, no. 1 (January 17, 2012): e28936. http://dx.doi.org/10.1371/journal.pone.0028936.

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Zhao, Huiying, Yuedong Yang, Yutong Lu, Matthew Mort, David N. Cooper, Zhiyi Zuo, and Yaoqi Zhou. "Quantitative mapping of genetic similarity in human heritable diseases by shared mutations." Human Mutation 39, no. 2 (November 21, 2017): 292–301. http://dx.doi.org/10.1002/humu.23358.

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Gershon, Elliot S., Maria Martinez, Lynn R. Goldin, and Pablo V. Gejman. "Genetic mapping of common diseases: the challenges of manic-depressive illness and schizophrenia." Trends in Genetics 6 (1990): 282–86. http://dx.doi.org/10.1016/0168-9525(90)90233-v.

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Beckwith, Jon, and Joseph S. Alper. "Reconsidering Genetic Antidiscrimination Legislation." Journal of Law, Medicine & Ethics 26, no. 3 (1998): 205–10. http://dx.doi.org/10.1111/j.1748-720x.1998.tb01421.x.

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Until approximately twenty years ago, advances in the study of human genetics had little influence on the practice of medicine. In the 1980s, this changed dramatically with the mapping of the altered genes that cause cystic fibrosis (CF) and Huntington disease (HD). In just a few years, these discoveries led to DNA-based tests that enabled clinicians to determine whether prospective parents were carriers of CF or whether an individual carried the Huntington gene and, as a result, would almost certainly develop the disease.Observers interested in the social and economic implications of genetic technology realized that such genetic tests could be used by insurance companies to predict which insurance applicants were likely to become ill or even die from these diseases.

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Klimeš, I., K. Weston, D. Gašperíková, P. Kovács, R. Kvetňanský, D. Ježová, R. Dixon, J. R. Thompson, E. Šeböková, and N. J. Samani. "Mapping of genetic determinants of the sympathoneural response to stress." Physiological Genomics 20, no. 2 (January 20, 2005): 183–87. http://dx.doi.org/10.1152/physiolgenomics.00054.2004.

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Activation of the sympathoadrenal system (SAS, comprising the sympathetic nervous system and the adrenal medulla) in response to stressful stimuli is an important defense mechanism as well as a contributor to several cardiovascular diseases. There is variability in the SAS response to stress, although the extent to which this is genetically regulated is unclear. Some rodent models, including the hereditary hypertriglyceridemic (hHTg) rat, are hyperresponsive to stress. We investigated whether quantitative trait loci (QTLs) that affect sympathoadrenal response to stress could be identified. Second filial generation rats ( n = 189) derived from a cross of the hHTg rat and the Brown Norway rat had plasma norepinephrine (NE) and epinephrine (Epi) levels, indices of activation of the sympathoneural and adrenal medulla components, respectively, measured in the resting state and in response to an immobilization stress. Responses were assessed early (20 min) and late (120 min) after the application of the stress. A genome scan was conducted using 153 microsatellite markers. Two QTLs (maximum peak LOD scores of 4.17 and 3.52, respectively) influencing both the early and late plasma NE response to stress were found on chromosome 10. Together, the QTLs accounted for ∼20% of the total variation in both the early and late NE responses in the F2 rats. Interestingly, the QTLs had no effect on plasma Epi response to stress. These findings provide evidence for a genetic determination of the response of a specific component of the SAS response to stress. Genetically determined variation in sympathetic nervous system response to stress may contribute to cardiovascular diseases.

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Jiang, Li, Peter Sørensen, Bo Thomsen, Stefan M. Edwards, Axel Skarman, Christine M. Røntved, Mogens S. Lund, and Christopher T. Workman. "Gene prioritization for livestock diseases by data integration." Physiological Genomics 44, no. 5 (March 1, 2012): 305–17. http://dx.doi.org/10.1152/physiolgenomics.00047.2011.

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Identifying causal genes that underlie complex traits such as susceptibility to disease is a primary aim of genetic and biomedical studies. Genetic mapping of quantitative trait loci (QTL) and gene expression profiling based on high-throughput technologies are common first approaches toward identifying associations between genes and traits; however, it is often difficult to assess whether the biological function of a putative candidate gene is consistent with a particular phenotype. Here, we have implemented a network-based disease gene prioritization approach for ranking genes associated with quantitative traits and diseases in livestock species. The approach uses ortholog mapping and integrates information on disease or trait phenotypes, gene-associated phenotypes, and protein-protein interactions. It was used for ranking all known genes present in the cattle genome for their potential roles in bovine mastitis. Gene-associated phenome profile and transcriptome profile in response to Escherichia coli infection in the mammary gland were integrated to make a global inference of bovine genes involved in mastitis. The top ranked genes were highly enriched for pathways and biological processes underlying inflammation and immune responses, which supports the validity of our approach for identifying genes that are relevant to animal health and disease. These gene-associated phenotypes were used for a local prioritization of candidate genes located in a QTL affecting the susceptibility to mastitis. Our study provides a general framework for prioritizing genes associated with various complex traits in different species. To our knowledge this is the first time that gene expression, ortholog mapping, protein interactions, and biomedical text data have been integrated systematically for ranking candidate genes in any livestock species.

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Thumamo Pokam, BenjaminD, D. Yeboah-Manu, L. Lawson, PW Guemdjom, PM Teyim, RE Okonu, and AnneE Asuquo. "Mapping Mycobacterium tuberculosis genetic diversity in the Gulf of Guinea – Africa." International Journal of Mycobacteriology 9, no. 5 (2021): 57. http://dx.doi.org/10.4103/2212-5531.307108.

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Han, Jing, and Yongzhao Shao. "The Transmission Disequilibrium/Heterogeneity Test with Parental-Genotype Reconstruction for Refined Genetic Mapping of Complex Diseases." Journal of Probability and Statistics 2012 (2012): 1–14. http://dx.doi.org/10.1155/2012/256574.

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In linkage analysis for mapping genetic diseases, the transmission/disequilibrium test (TDT) uses the linkage disequilibrium (LD) between some marker and trait loci for precise genetic mapping while avoiding confounding due to population stratification. The sib-TDT (S-TDT) and combined-TDT (C-TDT) proposed by Spielman and Ewens can combine data from families with and without parental marker genotypes (PMGs). For some families with missing PMG, the reconstruction-combined TDT (RC-TDT) proposed by Knapp may be used to reconstruct missing parental genotypes from the genotypes of their offspring to increase power and to correct for potential bias. In this paper, we propose a further extension of the RC-TDT, called the reconstruction-combined transmission disequilibrium/heterogeneity (RC-TDH) test, to take into account the identical-by-descent (IBD) sharing information in addition to the LD information. It can effectively utilize families with missing or incomplete parental genetic marker information. An application of this proposed method to Genetic Analysis Workshop 14 (GAW14) data sets and extensive simulation studies suggest that this approach may further increase statistical power which is particularly valuable when LD is unknown and/or when some or all PMGs are not available.

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Bolovan-Fritts, Cynthia A., and Jean A. Wiedeman. "Mapping the viral genetic determinants of endothelial cell tropism in human cytomegalovirus." Journal of Clinical Virology 25 (August 2002): 97–109. http://dx.doi.org/10.1016/s1386-6532(02)00089-6.

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Fedak, George, Dawn Chi, Colin Hiebert, Tom Fetch, Brent McCallum, Allen Xue, and Wenguang Cao. "Capturing Multiple Disease Resistance in Wheat through Intergeneric Hybridization." Biology 10, no. 7 (July 8, 2021): 631. http://dx.doi.org/10.3390/biology10070631.

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Derivatives from 4 species from the secondary gene pool of wheat—1 diploid (T. monococcum), 2 tetraploid (T. carthlicum; T. timopheevi), and 1 hexaploid (T. miguschovae)—were screened for resistance to Fusarium head blight, leaf rust, stem rust, and stripe rust. Where screening, genetic studies, and mapping were completed it was shown that all species carried resistance to multiple plant diseases. Some derived lines carried resistance to up to four different diseases. Where mapping was completed, it was shown that different diseases mapped to different chromosomes within any one accession.

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Gorbunova, Viktoriya Nikolayevna. "Molecular genetics — a way to the individual personalized medicine." Pediatrician (St. Petersburg) 4, no. 1 (January 15, 2013): 115–21. http://dx.doi.org/10.17816/ped41115-121.

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Review of modern technologies that are used for identification and mapping of genetic risk factors associated with different multifactorial diseases. The principles of the wide genomic association scan (GWAS) are accounted. A significance of this method is considered on the example of hereditary predisposition to autoimmune diseases. The role of MCH complex gene polymorphism and specific genetic risk factors in the autoimmunity forming and a possibility of multifactorial diseases personalized therapy with taking into account of the patient hereditary constitution are discussed.

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Uitto, Jouni. "Genetic Linkage Mapping of Heritable Skin Diseases: Positional Cloning Versus the Candidate Gene Approach." Journal of Investigative Dermatology 102, no. 6 (June 1994): 825–26. http://dx.doi.org/10.1111/1523-1747.ep12381904.

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Broeckel, Ulrich, and Nicholas J. Schork. "Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping." Journal of Physiology 554, no. 1 (December 10, 2003): 40–45. http://dx.doi.org/10.1113/jphysiol.2003.051128.

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Patterson, David. "Genetic mapping in chromosome 21 and its implications for Down's syndrome and other diseases." Somatic Cell and Molecular Genetics 13, no. 4 (July 1987): 365–72. http://dx.doi.org/10.1007/bf01534933.

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WITZIG, CLAUDIA, CHARLES S. WONDJI, CLARE STRODE, ROUSSEAU DJOUAKA, and HILARY RANSON. "Identifying permethrin resistance loci in malaria vectors by genetic mapping." Parasitology 140, no. 12 (February 28, 2013): 1468–77. http://dx.doi.org/10.1017/s0031182013000024.

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SUMMARYIdentification of the major loci responsible for insecticide resistance in malaria vectors would aid the development and implementation of effective resistance management strategies, which are urgently needed to tackle the growing threat posed by resistance to the limited insecticides available for malaria control. Genome-wide association studies in the major malaria vector, Anopheles gambiae, have been hindered by the high degree of within-population structuring and very low levels of linkage disequilibrium hence we revisited the use of quantitative trait loci (QTL) mapping to study resistance phenotypes in this vector species. Earlier work, identified two major QTL associated with pyrethroid resistance in A. gambiae s.s. from East Africa using genetic crossing of laboratory-colonized resistant and susceptible strains. In this study, we report the results from genetic mapping of pyrethroid resistance in three isofemale pedigrees established from wild-caught female A. gambiae s.s. mosquitoes from Benin. We identified two QTL on chromosomes 2L and 3R in these field populations, in similar genomic locations to the QTL identified in laboratory strains. The relative merits of two alternative study designs are discussed and suggestions made for future genetic mapping studies of insecticide resistance in mosquitoes.

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Beck, Emily A., Mark C. Currey, Clayton M. Small, and William A. Cresko. "QTL Mapping of Intestinal Neutrophil Variation in Threespine Stickleback Reveals Possible Gene Targets Connecting Intestinal Inflammation and Systemic Health." G3: Genes|Genomes|Genetics 10, no. 2 (December 16, 2019): 613–22. http://dx.doi.org/10.1534/g3.119.400685.

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Selection, via host immunity, is often required to foster beneficial microbial symbionts and suppress deleterious pathogens. In animals, the host immune system is at the center of this relationship. Failed host immune system-microbial interactions can result in a persistent inflammatory response in which the immune system indiscriminately attacks resident microbes, and at times the host cells themselves, leading to diseases such as Ulcerative Colitis, Crohn’s Disease, and Psoriasis. Host genetic variation has been linked to both microbiome diversity and to severity of such inflammatory disease states in humans. However, the microbiome and inflammatory states manifest as quantitative traits, which encompass many genes interacting with one another and the environment. The mechanistic relationships among all of these interacting components are still not clear. Developing natural genetic models of host-microbe interactions is therefore fundamental to understanding the complex genetics of these and other diseases. Threespine stickleback (Gasterosteus aculeatus) fish are a tractable model for attacking this problem because of abundant population-level genetic and phenotypic variation in the gut inflammatory response. Previous work in our laboratory identified genetically divergent stickleback populations exhibiting differences in intestinal neutrophil activity. We took advantage of this diversity to genetically map variation in an emblematic element of gut inflammation - intestinal neutrophil recruitment - using an F2-intercross mapping framework. We identified two regions of the genome associated with increased intestinal inflammation containing several promising candidate genes. Within these regions we found candidates in the Coagulation/Complement System, NFkB and MAPK pathways along with several genes associated with intestinal diseases and neurological diseases commonly accompanying intestinal inflammation as a secondary symptom. These findings highlight the utility of using naturally genetically diverse ‘evolutionary mutant models’ such as threespine stickleback to better understand interactions among host genetic diversity and microbiome variation in health and disease states.

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Tomer, Yaron, and Terry F. Davies. "Searching for the Autoimmune Thyroid Disease Susceptibility Genes: From Gene Mapping to Gene Function." Endocrine Reviews 24, no. 5 (October 1, 2003): 694–717. http://dx.doi.org/10.1210/er.2002-0030.

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Abstract The autoimmune thyroid diseases (AITD) are complex diseases that are caused by an interaction between susceptibility genes and environmental triggers. Genetic susceptibility, in combination with external factors (e.g., dietary iodine), is believed to initiate the autoimmune response to thyroid antigens. Abundant epidemiological data, including family and twin studies, point to a strong genetic influence on the development of AITD. Various techniques have been used to identify the genes contributing to the etiology of AITD, including candidate gene analysis and whole genome screening. These studies have enabled the identification of several loci (genetic regions) that are linked with AITD, and in some of these loci putative AITD susceptibility genes have been identified. Some of these genes/loci are unique to Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), and some are common to both diseases, indicating that there is a shared genetic susceptibility to GD and HT. The putative GD and HT susceptibility genes include both immune modifying genes (e.g., human leukocyte antigen, cytotoxic T lymphocyte antigen-4) and thyroid-specific genes (e.g., TSH receptor, thyroglobulin). Most likely these loci interact, and their interactions may influence disease phenotype and severity. It is hoped that in the near future additional AITD susceptibility genes will be identified and the mechanisms by which they induce AITD will be unraveled.

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Broekema, R. V., O. B. Bakker, and I. H. Jonkers. "A practical view of fine-mapping and gene prioritization in the post-genome-wide association era." Open Biology 10, no. 1 (January 2020): 190221. http://dx.doi.org/10.1098/rsob.190221.

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Over the past 15 years, genome-wide association studies (GWASs) have enabled the systematic identification of genetic loci associated with traits and diseases. However, due to resolution issues and methodological limitations, the true causal variants and genes associated with traits remain difficult to identify. In this post-GWAS era, many biological and computational fine-mapping approaches now aim to solve these issues. Here, we review fine-mapping and gene prioritization approaches that, when combined, will improve the understanding of the underlying mechanisms of complex traits and diseases. Fine-mapping of genetic variants has become increasingly sophisticated: initially, variants were simply overlapped with functional elements, but now the impact of variants on regulatory activity and direct variant-gene 3D interactions can be identified. Moreover, gene manipulation by CRISPR/Cas9, the identification of expression quantitative trait loci and the use of co-expression networks have all increased our understanding of the genes and pathways affected by GWAS loci. However, despite this progress, limitations including the lack of cell-type- and disease-specific data and the ever-increasing complexity of polygenic models of traits pose serious challenges. Indeed, the combination of fine-mapping and gene prioritization by statistical, functional and population-based strategies will be necessary to truly understand how GWAS loci contribute to complex traits and diseases.

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Wilfert, Lena, and Francis M. Jiggins. "Disease association mapping in Drosophila can be replicated in the wild." Biology Letters 6, no. 5 (May 5, 2010): 666–68. http://dx.doi.org/10.1098/rsbl.2010.0329.

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Association and linkage mapping have become important tools in understanding the genetics of complex traits, including diseases in humans. As the success of association mapping is reduced by small effect sizes and limited power, linkage studies in laboratory-based model systems are still heavily used. But whether the results of these studies can be replicated in natural populations has been questioned. Here, we show that a polymorphism in the gene ref ( 2 ) P , which had previously been linked to sigma virus resistance in Drosophila melanogaster under laboratory conditions, also provides resistance against the virus in female flies in a wild population in the field. This genetic association is thus upheld in spite of a known genotype-by-genotype interaction and environmental variation.

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Müllerová, Jana, and Pavel Hozák. "Use of Recombinant Congenic Strains in Mapping Disease-Modifying Genes." Physiology 19, no. 3 (June 2004): 105–9. http://dx.doi.org/10.1152/nips.01512.2003.

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Previous research studies have established much information about single-gene diseases. However, other genes also influencing the outcome of a disease and genes involved in complex disease remain largely unknown. Here we report on recombinant congenic strains of mice, a powerful tool for genetic dissection of a complex trait.

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KADARMIDEEN, HAJA N., YONGJUN LI, and LUC L. G. JANSS. "Gene–environment interactions in complex diseases: genetic models and methods for QTL mapping in multiple half-sib populations." Genetical Research 88, no. 2 (September 15, 2006): 119–31. http://dx.doi.org/10.1017/s0016672306008391.

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An interval quantitative trait locus (QTL) mapping method for complex polygenic diseases (as binary traits) showing QTL by environment interactions (QEI) was developed for outbred populations on a within-family basis. The main objectives, within the above context, were to investigate selection of genetic models and to compare liability or generalized interval mapping (GIM) and linear regression interval mapping (RIM) methods. Two different genetic models were used: one with main QTL and QEI effects (QEI model) and the other with only a main QTL effect (QTL model). Over 30 types of binary disease data as well as six types of continuous data were simulated and analysed by RIM and GIM. Using table values for significance testing, results show that RIM had an increased false detection rate (FDR) for testing interactions which was attributable to scale effects on the binary scale. GIM did not suffer from a high FDR for testing interactions. The use of empirical thresholds, which effectively means higher thresholds for RIM for testing interactions, could repair this increased FDR for RIM, but such empirical thresholds would have to be derived for each case because the amount of FDR depends on the incidence on the binary scale. RIM still suffered from higher biases (15–100% over- or under-estimation of true values) and high standard errors in QTL variance and location estimates than GIM for QEI models. Hence GIM is recommended for disease QTL mapping with QEI. In the presence of QEI, the model including QEI has more power (20–80% increase) to detect the QTL when the average QTL effect is small (in a situation where the model with a main QTL only is not too powerful). Top-down model selection is proposed in which a full test for QEI is conducted first and then the model is subsequently simplified. Methods and results will be applicable to human, plant and animal QTL mapping experiments.

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Yeh, Ming Te, Sara Capponi, Adam Catching, Simone Bianco, and Raul Andino. "Mapping Attenuation Determinants in Enterovirus-D68." Viruses 12, no. 8 (August 8, 2020): 867. http://dx.doi.org/10.3390/v12080867.

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Enterovirus (EV)-D68 has been associated with epidemics in the United Sates in 2014, 2016 and 2018. This study aims to identify potential viral virulence determinants. We found that neonatal type I interferon receptor knockout mice are susceptible to EV-D68 infection via intraperitoneal inoculation and were able to recapitulate the paralysis process observed in human disease. Among the EV-D68 strains tested, strain US/MO-14-18949 caused no observable disease in this mouse model, whereas the other strains caused paralysis and death. Sequence analysis revealed several conserved genetic changes among these virus strains: nucleotide positions 107 and 648 in the 5′-untranslated region (UTR); amino acid position 88 in VP3; 1, 148, 282 and 283 in VP1; 22 in 2A; 47 in 3A. A series of chimeric and point-mutated infectious clones were constructed to identify viral elements responsible for the distinct virulence. A single amino acid change from isoleucine to valine at position 88 in VP3 attenuated neurovirulence by reducing virus replication in the brain and spinal cord of infected mice.

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Chubanov, Vladimir, and Thomas Gudermann. "Mapping TRPM7 Function by NS8593." International Journal of Molecular Sciences 21, no. 19 (September 23, 2020): 7017. http://dx.doi.org/10.3390/ijms21197017.

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The transient receptor potential cation channel, subfamily M, member 7 (TRPM7) is a ubiquitously expressed membrane protein, which forms a channel linked to a cytosolic protein kinase. Genetic inactivation of TRPM7 in animal models uncovered the critical role of TRPM7 in early embryonic development, immune responses, and the organismal balance of Zn2+, Mg2+, and Ca2+. TRPM7 emerged as a new therapeutic target because malfunctions of TRPM7 have been associated with anoxic neuronal death, tissue fibrosis, tumour progression, and giant platelet disorder. Recently, several laboratories have identified pharmacological compounds allowing to modulate either channel or kinase activity of TRPM7. Among other small molecules, NS8593 has been defined as a potent negative gating regulator of the TRPM7 channel. Consequently, several groups applied NS8593 to investigate cellular pathways regulated by TRPM7. Here, we summarize the progress in this research area. In particular, two notable milestones have been reached in the assessment of TRPM7 druggability. Firstly, several laboratories demonstrated that NS8593 treatment reliably mirrors prominent phenotypes of cells manipulated by genetic inactivation of TRPM7. Secondly, it has been shown that NS8593 allows us to probe the therapeutic potential of TRPM7 in animal models of human diseases. Collectively, these studies employing NS8593 may serve as a blueprint for the preclinical assessment of TRPM7-targeting drugs.

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Pinheiro, Andréa Poyastro, Patrick F. Sullivan, Josue Bacaltchuck, Pedro Antonio Schmidt do Prado-Lima, and Cynthia M. Bulik. "Genetics in eating disorders: extending the boundaries of research." Revista Brasileira de Psiquiatria 28, no. 3 (August 9, 2006): 218–25. http://dx.doi.org/10.1590/s1516-44462006005000004.

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OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa and bulimia nervosa. Genetic research with admixed populations should take into consideration sample size, density of genotyping and population stratification. Through admixture mapping it is possible to study the genetic structure of admixed human populations to localize genes that underlie ethnic variation in diseases or traits of interest. CONCLUSIONS: The development of a major collaborative genetics initiative of eating disorders in Brazil and South America would represent a realistic possibility of studying the genetics of eating disorders in the context of inter ethnic groups, and also integrate a new perspective on the biological etiology of eating disorders.

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Galjaard, Hans. "Genetic Technology in Health Care: A Global View." International Journal of Technology Assessment in Health Care 10, no. 4 (1994): 527–45. http://dx.doi.org/10.1017/s026646230000814x.

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AbstractClinical genetics services have become an integrated part of health care in nearly all European countries. The emphasis has been on postnatal cytogenetic, biochemical, and DNA diagnosis of congenital disorders, carrier detection, genetic counseling, and prenatal diagnosis. Use has been satisfactory, and very few ethical problems have arisen, apart from moral objections against abortion by minority groups. The progress of human gene mapping is associated with new perspectives in clinical genetics and will enable the identification of people at risk of major adult diseases. This prospect has caused some concern about psychosocial and ethical issues that are being dealt with in different ways in various postindustrial societies. In future decades, however, 95% of the world's population increase will occur in developing countries. In most of these countries, a low per capita income, female illiteracy, low rates of contraceptive use, teenage pregnancy, and religious and traditional cultural factors are major complications of implementing genetic services at a global level. There are, however, some exceptions, which are discussed.

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Kawashima, K. D., and H. Akashi. "The global population genetics of Dengue viruses revealed through temporal and spatial mapping of viral genetic variation." International Journal of Infectious Diseases 53 (December 2016): 154. http://dx.doi.org/10.1016/j.ijid.2016.11.377.

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Coetzee, Gerhard A. "Understanding Non-Mendelian Genetic Risk." Current Genomics 20, no. 5 (December 3, 2019): 322–24. http://dx.doi.org/10.2174/1389202920666191018085511.

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This opinion paper highlights strategies for a better understanding of non-Mendelian genetic risk that was revealed by genome-wide association studies (GWAS) of complex diseases. The genetic risk resides predominantly in non-coding regulatory DNA, such as in enhancers. The identification of mechanisms, the causal variants (mainly SNPs), and their target genes are, however, not always apparent but are likely involved in a network of risk determinants; the identification presents a bottle-neck in the full understanding of the genetics of complex phenotypes. Here, we propose strategies to identify functional SNPs and link risk enhancers with their target genes. The strategies are 1) identifying finemapped SNPs that break/form response elements within chromatin bio-features in relevant cell types 2) considering the nearest gene on linear DNA, 3) analyzing eQTLs, 4) mapping differential DNA methylation regions and relating them to gene expression, 5) employing genomic editing with CRISPR/cas9 and 6) identifying topological associated chromatin domains using chromatin conformation capture.

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Saukko, Paula. "State of play in direct-to-consumer genetic testing for lifestyle-related diseases: market, marketing content, user experiences and regulation." Proceedings of the Nutrition Society 72, no. 1 (January 21, 2013): 53–60. http://dx.doi.org/10.1017/s0029665112002960.

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Direct-to-consumer (DTC) genetic tests have aroused controversy. Critics have argued many of the tests are not backed by scientific evidence, misguide their customers and should be regulated more stringently. Proponents suggest that finding out genetic susceptibilities for diseases could encourage healthier behaviours and makes the results of genetics research available to the public. This paper reviews the state of play in DTC genetic testing, focusing on tests identifying susceptibilities for lifestyle-related diseases. It will start with mapping the market for the tests. The paper will review (1) research on the content of the online marketing of DTC tests, (2) studies on the effects of DTC genetic tests on customers and (3) academic and policy proposals on how to regulate the tests. Current studies suggest that the marketing of DTC genetic tests often exaggerates their predictive powers, which could misguide consumers. However, research indicates that the tests do not seem to have major negative effects (worry and confusion) but neither do they engender positive effects (lifestyle change) on current users. Research on regulation of the tests has most commonly suggested regulating the marketing claims of the companies. In conclusion, the risks and benefits of DTC genetic tests are less significant than what has been predicted by critics and proponents, which will be argued reflects broader historical trends transforming health and medicine.

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Heward, Joanne, and Stephen C. L. Gough. "Genetic Susceptibility to the Development of Autoimmune Disease." Clinical Science 93, no. 6 (December 1, 1997): 479–91. http://dx.doi.org/10.1042/cs0930479.

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1. Autoimmune diseases are common conditions which appear to develop in genetically susceptible individuals, with expression of disease being modified by permissive and protective environments. Familial clustering and data from twin studies provided the impetus for the search for putative loci. Both the candidate gene approach in population-based case-control studies and entire genome screening in families have helped identify susceptibility genes in a number of autoimmune diseases. 2. After the first genome screen in type 1 (insulin-dependent) diabetes mellitus it seems likely that most autoimmune diseases are polygenic with no single gene being either necessary or sufficient for disease development. Of the organ-specific autoimmune diseases, genome screens have now been completed in insulin-dependent diabetes mellitus and multiple sclerosis. Furthermore, the clustering of autoimmune diseases within the same individuals suggests that the same genes may be involved in the different diseases. This is supported by data showing that both HLA (human leucocyte antigen) and CTLA-4 (cytotoxic T-lymphocyte-associated-4) appear to be involved in the development of insulin-dependent diabetes mellitus and Graves' disease. 3. Genome screens have also been completed in some of the non-organ-specific autoimmune diseases including rheumatoid arthritis, inflammatory bowel disease and psoriasis. Many candidate genes have also been investigated although these are predominantly in population-based case-control studies. 4. Substantial progress has been made in recent years towards the identification of susceptibility loci in autoimmune diseases. The inconsistencies seen between case-control studies may largely be due to genetic mismatching between cases and controls in small datasets. Family-based association studies are being increasingly used to confirm genetic linkages and help with fine mapping strategies. It will, however, require a combination of biology and genetics, as has been necessary with the major histocompatibility complex in insulin-dependent diabetes mellitus, to identify primary aetiological mutations.

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Prokunina, Ludmila, and Marta E. Alarcón-Riquelme. "Regulatory SNPs in complex diseases: their identification and functional validation." Expert Reviews in Molecular Medicine 6, no. 10 (April 26, 2004): 1–15. http://dx.doi.org/10.1017/s1462399404007690.

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Finding the genetic causes for complex diseases is a challenge. Expression studies have shown that the level of expression of many genes is altered in disease compared with normal conditions, but what lies behind these changes? Linkage studies provide hints as to where in the genome the genetic triggers – the mutations – might be located. Fine-mapping and association studies can give yet more information about which genes, and which changes in the genes, are involved in the disease. Recent examples show that single-nucleotide polymorphisms (SNPs), which are variations at the single-nucleotide level within an individual's DNA, in the regulatory regions of some genes constitute susceptibility factors in many complex diseases. This article discusses the nature of regulatory SNPs (rSNPs) and techniques for their functional validation, and looks towards what rSNPs can tell us about complex diseases.

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Journal articles on the topic 'Diseases - genetic mapping'

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