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dc.contributor.authorCheng, Ching-Yu
dc.contributor.authorWong, Tien Y.
dc.contributor.authorKlein, Ronald
dc.contributor.authorKlein, Barbara E. K.
dc.contributor.authorPatterson, Nick
dc.contributor.authorLi, Man
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorSharrett, A. Richey
dc.contributor.authorReich, David Emil
dc.contributor.authorTandon, Arti
dc.contributor.authorKao, W. H. Linda
dc.date.accessioned2011-02-14T23:29:25Z
dc.date.issued2010
dc.identifier.citationCheng, Ching-Yu, David Reich, Tien Y. Wong, Ronald Klein, Barbara E. K. Klein, Nick Patterson, Arti Tandon, et al. 2010. Admixture Mapping Scans Identify a Locus Affecting Retinal Vascular Caliber in Hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) Study. PLoS Genetics 6(4): e1000908.en_US
dc.identifier.issn1553-7390en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:4725500
dc.description.abstractRetinal 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 (ρ = 0.071, P = 0.003), but not CRAE (ρ = 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 µm in the hypertensives, but had no significant effects in the non-hypertensives (P for heterogeneity <0.001). Further mapping in the 6p21.1 region may uncover novel genetic variants affecting retinal vascular caliber and further insights into the interaction between genetic effects of the microvascular system and hypertension.en_US
dc.language.isoen_USen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofdoi:10.1371/journal.pgen.1000908en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2855324/pdf/en_US
dash.licenseLAA
dc.subjectcardiovascular disordersen_US
dc.subjecthypertensionen_US
dc.subjectperipheral vascular diseaseen_US
dc.subjectevolutionary biologyen_US
dc.subjectgenomicsen_US
dc.subjectgenetics and genomicsen_US
dc.subjectcomplex traitsen_US
dc.subjectpopulation geneticsen_US
dc.subjectophthalmologyen_US
dc.subjectretinal disordersen_US
dc.subjectpublic health and epidemiologyen_US
dc.subjectepidemiologyen_US
dc.titleAdmixture Mapping Scans Identify a Locus Affecting Retinal Vascular Caliber in Hypertensive African Americans: The Atherosclerosis Risk in Communities (ARIC) Studyen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalPLoS Geneticsen_US
dash.depositing.authorReich, David Emil
dc.date.available2011-02-14T23:29:25Z
dash.affiliation.otherHMS^Geneticsen_US
dash.affiliation.otherHMS^Geneticsen_US
dc.identifier.doi10.1371/journal.pgen.1000908*
dash.authorsorderedfalse
dash.contributor.affiliatedReich, David
dash.contributor.affiliatedTandon, Arti


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