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Admixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) study.

TitleAdmixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) study.
Publication TypeJournal Article
Year of Publication2010
AuthorsCheng C-Y, Reich D, Wong TY, Klein R, Klein BEK, Patterson N, Tandon A, Li M, Boerwinkle E, A Sharrett R, Kao LWH
JournalPLoS Genet
Volume6
Issue4
Paginatione1000908
Date Published2010 Apr 15
ISSN1553-7404
KeywordsAfrican Americans, Atherosclerosis, Genetic Loci, Genome, Human, Humans, Hypertension, Retinal Artery, Retinal Vein, Retinal Vessels
Abstract

Retinal vascular caliber provides information about the structure and health of the microvascular system and is associated with cardiovascular and cerebrovascular diseases. Compared to European Americans, African Americans tend to have wider retinal arteriolar and venular caliber, even after controlling for cardiovascular risk factors. This has suggested the hypothesis that differences in genetic background may contribute to racial/ethnic differences in retinal vascular caliber. Using 1,365 ancestry-informative SNPs, we estimated the percentage of African ancestry (PAA) and conducted genome-wide admixture mapping scans in 1,737 African Americans from the Atherosclerosis Risk in Communities (ARIC) study. Central retinal artery equivalent (CRAE) and central retinal vein equivalent (CRVE) representing summary measures of retinal arteriolar and venular caliber, respectively, were measured from retinal photographs. PAA was significantly correlated with CRVE (rho = 0.071, P = 0.003), but not CRAE (rho = 0.032, P = 0.182). Using admixture mapping, we did not detect significant admixture association with either CRAE (genome-wide score = -0.73) or CRVE (genome-wide score = -0.69). An a priori subgroup analysis among hypertensive individuals detected a genome-wide significant association of CRVE with greater African ancestry at chromosome 6p21.1 (genome-wide score = 2.31, locus-specific LOD = 5.47). Each additional copy of an African ancestral allele at the 6p21.1 peak was associated with an average increase in CRVE of 6.14 microm in the hypertensives, but had no significant effects in the non-hypertensives (P for heterogeneity

DOI10.1371/journal.pgen.1000908
Alternate JournalPLoS Genet
PubMed ID20419148
PubMed Central IDPMC2855324
Grant ListN01HC55020 / HL / NHLBI NIH HHS / United States
K01 DK067207 / DK / NIDDK NIH HHS / United States
N01HV48195 / HL / NHLBI NIH HHS / United States
N01HG65403 / HG / NHGRI NIH HHS / United States
N01-HV-48195 / HV / NHLBI NIH HHS / United States
N01HC55018 / HL / NHLBI NIH HHS / United States
U01 HG004168 / HG / NHGRI NIH HHS / United States
N01-HC-55022 / HC / NHLBI NIH HHS / United States
R21DK073482 / DK / NIDDK NIH HHS / United States
N01-HC-55016 / HC / NHLBI NIH HHS / United States
N01HC55022 / HL / NHLBI NIH HHS / United States
N01-HC-55021 / HC / NHLBI NIH HHS / United States
N01HC55015 / HL / NHLBI NIH HHS / United States
K01DK067207 / DK / NIDDK NIH HHS / United States
N01-HC-55019 / HC / NHLBI NIH HHS / United States
R21 DK073482 / DK / NIDDK NIH HHS / United States
N01-HC-55015 / HC / NHLBI NIH HHS / United States
N01-HC-55020 / HC / NHLBI NIH HHS / United States
N01HC55016 / HL / NHLBI NIH HHS / United States
N01HC55019 / HL / NHLBI NIH HHS / United States
N01-HC-55018 / HC / NHLBI NIH HHS / United States
N01HC55021 / HL / NHLBI NIH HHS / United States
/ / Wellcome Trust / United Kingdom
U01-HG004168 / HG / NHGRI NIH HHS / United States