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美国国立心肺血液研究所家族心脏研究中非洲裔美国人冠状动脉钙化的 admixture 定位

Admixture mapping of coronary artery calcification in African Americans from the NHLBI family heart study.

作者信息

Gomez Felicia, Wang Lihua, Abel Haley, Zhang Qunyuan, Province Michael A, Borecki Ingrid B

机构信息

Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine in St Louis, 4444 Forest Park Blvd, Campus Box 8506, St Louis, MO, 63108, USA.

出版信息

BMC Genet. 2015 Apr 23;16:42. doi: 10.1186/s12863-015-0196-x.

DOI:10.1186/s12863-015-0196-x
PMID:25902833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4417236/
Abstract

BACKGROUND

Coronary artery calcification (CAC) is an imaging biomarker of coronary atherosclerosis. In European Americans, genome-wide association studies (GWAS) have identified several regions associated with coronary artery disease. However, few large studies have been conducted in African Americans. The largest meta-analysis of CAC in African Americans failed to identify genome-wide significant variants despite being powered to detect effects comparable to effects identified in European Americans. Because CAC is different in prevalence and severity in African Americans and European Americans, admixture mapping is a useful approach to identify loci missed by GWAS.

RESULTS

We applied admixture mapping to the African American cohort of the Family Heart Study and identified one genome-wide significant region on chromosome 12 and three potential regions on chromosomes 6, 15, and 19 that are associated with CAC. Follow-up studies using previously reported GWAS meta-analysis data suggest that the regions identified on chromosome 6 and 15 contain variants that are possibly associated with CAC. The associated region on chromosome 6 contains the gene for BMP-6, which is expressed in vascular calcific lesions.

CONCLUSIONS

Our results suggest that admixture mapping can be a useful hypothesis-generating tool to identify genomic regions that contribute to complex diseases in genetically admixed populations.

摘要

背景

冠状动脉钙化（CAC）是冠状动脉粥样硬化的一种影像学生物标志物。在欧裔美国人中，全基因组关联研究（GWAS）已确定了几个与冠状动脉疾病相关的区域。然而，针对非裔美国人开展的大型研究较少。对非裔美国人的CAC进行的最大规模荟萃分析未能识别出全基因组显著变异，尽管其检测效力足以发现与欧裔美国人中所识别效应相当的效应。由于非裔美国人和欧裔美国人的CAC在患病率和严重程度上存在差异，混合映射是一种识别GWAS遗漏位点的有用方法。

结果

我们将混合映射应用于家族心脏研究的非裔美国人队列，在12号染色体上识别出一个全基因组显著区域，在6号、15号和19号染色体上识别出三个与CAC相关的潜在区域。使用先前报道的GWAS荟萃分析数据进行的后续研究表明，在6号和15号染色体上识别出的区域包含可能与CAC相关的变异。6号染色体上的相关区域包含BMP - 6基因，该基因在血管钙化病变中表达。

结论

我们的结果表明，混合映射可以作为一种有用的假设生成工具，用于识别在基因混合人群中导致复杂疾病的基因组区域。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/b0d9e456518c/12863_2015_196_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/68b9999ba19f/12863_2015_196_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/5c99fc384583/12863_2015_196_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/2bb699bd0d3a/12863_2015_196_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/714b2186a553/12863_2015_196_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/b0d9e456518c/12863_2015_196_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/68b9999ba19f/12863_2015_196_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/5c99fc384583/12863_2015_196_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/2bb699bd0d3a/12863_2015_196_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/714b2186a553/12863_2015_196_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91ac/4417236/b0d9e456518c/12863_2015_196_Fig5_HTML.jpg

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