一项针对 REGARDS 研究中大量非裔美国人的观察性流行病学队列的 pheWAS 研究。
A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study.
机构信息
Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, 35233, USA.
BGI-Shenzhen, Shenzhen, 518083, China.
出版信息
BMC Med Genomics. 2019 Jan 31;12(Suppl 1):26. doi: 10.1186/s12920-018-0462-7.
BACKGROUND
Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains limited.
RESULTS
In our study, associations between 4956 GWAS catalog reported SNPs and 67 traits were examined among 7726 African Americans from the REasons for Geographic and Racial Differences in Stroke (REGARDS) study, which is focused on identifying factors that increase stroke risk. The prevalent and incident phenotypes studied included inflammation, kidney traits, cardiovascular traits and cognition. Our results validated 29 known associations, of which eight associations were reported for the first time in African Americans.
CONCLUSION
Our cross-racial validation of GWAS findings provide additional evidence for the important roles of these loci in the disease process and may help identify genes especially important for future functional validation.
背景
心血管疾病、糖尿病和肾脏疾病是全球范围内导致死亡和残疾的主要原因之一。然而，非洲裔美国人对这些疾病的遗传决定因素的了解仍然有限。
结果
在我们的研究中，在关注识别增加中风风险因素的中风原因的地理和种族差异研究（REGARDS）中，对 7726 名非洲裔美国人的 4956 个 GWAS 目录报告的 SNP 与 67 个特征之间的关联进行了检查。所研究的流行和发病表型包括炎症、肾脏特征、心血管特征和认知。我们的研究结果验证了 29 个已知的关联，其中 8 个关联是首次在非洲裔美国人中报告的。
结论
我们对 GWAS 发现的跨种族验证为这些基因座在疾病过程中的重要作用提供了额外的证据，并且可能有助于识别对未来功能验证特别重要的基因。
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