MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis
| العنوان: | MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis |
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| المؤلفون: | Michele H. Mokrzycki, Paul L. Kimmel, David Vlahov, Jeffrey S. Berns, Cheryl A. Winkler, Taras K. Oleksyk, Donald W. Bowden, William A. Briggs, Jeffrey B. Kopp, Stephen M. Korbet, Michael W. Smith, Barry I. Freedman, Eric E. Simon, Tejinder S. Ahuja, Louise M. McKenzie, Jeffrey R. Schelling, Richard A. Dart, George W. Nelson, Hiroshi Kajiyama, Randall C. Johnson, Monique E. Cho, Howard Trachtman, Donna M. Michel |
| المصدر: | Nature Genetics. 40:1175-1184 |
| بيانات النشر: | Springer Science and Business Media LLC, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | medicine.medical_specialty, Candidate gene, Apolipoprotein L1, Haplotype, Case-control study, Single-nucleotide polymorphism, Biology, medicine.disease, Gastroenterology, Endocrinology, Focal segmental glomerulosclerosis, Internal medicine, HIV-associated nephropathy, Genetics, medicine, biology.protein, Kidney disease |
| الوصف: | The increased burden of chronic kidney and end-stage kidney diseases (ESKD) in populations of African ancestry has been largely unexplained. To identify genetic variants predisposing to idiopathic and HIV-1–associated focal segmental glomerulosclerosis (FSGS), we carried out an admixture-mapping linkage-disequilibrium genome scan on 190 African American individuals with FSGS and 222 controls. We identified a chromosome 22 region with a genome-wide logarithm of the odds (lod) score of 9.2 and a peak lod of 12.4 centered on MYH9, a functional candidate gene expressed in kidney podocytes. Multiple MYH9 SNPs and haplotypes were recessively associated with FSGS, most strongly a haplotype spanning exons 14 through 23 (OR ¼ 5.0, 95% CI ¼ 3.5–7.1; P ¼ 4 � 10 � 23 , n ¼ 852). This association extended to hypertensive ESKD (OR ¼ 2.2, 95% CI ¼ 1.5–3.4; n ¼ 433), but not type 2 diabetic ESKD (n ¼ 476). Genetic variation at the MYH9 locus substantially explains the increased burden of FSGS and hypertensive ESKD among African Americans. |
| تدمد: | 1546-1718 1061-4036 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::b7d403944ff06931bddb21984143b544 https://doi.org/10.1038/ng.226 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........b7d403944ff06931bddb21984143b544 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15461718 10614036 |
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