دورية أكاديمية
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
| العنوان: | Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. |
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| المؤلفون: | LeMaire, Scott A, McDonald, Merry-Lynn N, Guo, Dong-Chuan, Russell, Ludivine, Miller, Charles C, Johnson, Ralph J, Bekheirnia, Mir Reza, Franco, Luis M, Nguyen, Mary, Pyeritz, Reed E, Bavaria, Joseph E, Devereux, Richard, Maslen, Cheryl, Holmes, Kathryn W, Eagle, Kim, Body, Simon C, Seidman, Christine, Seidman, J G, Isselbacher, Eric M, Bray, Molly, Coselli, Joseph S, Estrera, Anthony L, Safi, Hazim J, Belmont, John W, Leal, Suzanne M, Milewicz, Dianna M |
| المصدر: | Nat Genet ; ISSN:1546-1718 ; Volume:43 ; Issue:10 |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2011 |
| المجموعة: | PubMed Central (PMC) |
| الوصف: | Although thoracic aortic aneurysms and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the majority of affected people is poorly understood. In a multistage genome-wide association study (GWAS), we compared 765 individuals who had sporadic TAAD (STAAD) with 874 controls and identified common SNPs at a 15q21.1 locus that were associated with STAAD, with odds ratios of 1.6-1.8 that achieved genome-wide significance. We followed up 107 SNPs associated with STAAD with P < 1 × 10(-5) in the region, in two separate STAAD cohorts. The associated SNPs fall into a large region of linkage disequilibrium encompassing FBN1, which encodes fibrillin-1. FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://doi.org/10.1038/ng.934Test; https://pubmed.ncbi.nlm.nih.gov/21909107Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244938Test/ |
| DOI: | 10.1038/ng.934 |
| الإتاحة: | https://doi.org/10.1038/ng.934Test https://pubmed.ncbi.nlm.nih.gov/21909107Test https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244938Test/ |
| رقم الانضمام: | edsbas.60E2801B |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng.934 |
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