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Genetic loci for retinal arteriolar microcirculation.

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Authors
Sim, Xueling
Jensen, Richard A
Ikram, M Kamran
Cotch, Mary Frances
Li, Xiaohui
MacGregor, Stuart
Xie, Jing
Smith, Albert Vernon
Boerwinkle, Eric
Mitchell, Paul
Klein, Ronald
Klein, Barbara E K
Glazer, Nicole L
Lumley, Thomas
McKnight, Barbara
Psaty, Bruce M
de Jong, Paulus T V M
Hofman, Albert
Rivadeneira, Fernando
Uitterlinden, Andre G
van Duijn, Cornelia M
Aspelund, Thor
Eiriksdottir, Gudny
Harris, Tamara B
Jonasson, Fridbert
Launer, Lenore J
Attia, John
Baird, Paul N
Harrap, Stephen
Holliday, Elizabeth G
Inouye, Michael
Rochtchina, Elena
Scott, Rodney J
Viswanathan, Ananth
Li, Guo
Smith, Nicholas L
Wiggins, Kerri L
Kuo, Jane Z
Taylor, Kent D
Hewitt, Alex W
Martin, Nicholas G
Montgomery, Grant W
Sun, Cong
Young, Terri L
Mackey, David A
van Zuydam, Natalie R
Doney, Alex S F
Palmer, Colin N A
Morris, Andrew D
Rotter, Jerome I
Tai, E Shyong
Gudnason, Vilmundur
Vingerling, Johannes R
Siscovick, David S
Wang, Jie Jin
Wong, Tien Y
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Issue Date
2013

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PLoS ONE 2013, 8 (6):e65804
Abstract
Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a genome-wide association study in 18,722 unrelated individuals of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium and the Blue Mountain Eye Study, to identify genetic determinants associated with variations in retinal arteriolar caliber. Retinal vascular calibers were measured on digitized retinal photographs using a standardized protocol. One variant (rs2194025 on chromosome 5q14 near the myocyte enhancer factor 2C MEF2C gene) was associated with retinal arteriolar caliber in the meta-analysis of the discovery cohorts at genome-wide significance of P-value <5×10(-8). This variant was replicated in an additional 3,939 individuals of European ancestry from the Australian Twins Study and Multi-Ethnic Study of Atherosclerosis (rs2194025, P-value = 2.11×10(-12) in combined meta-analysis of discovery and replication cohorts). In independent studies of modest sample sizes, no significant association was found between this variant and clinical outcomes including coronary artery disease, stroke, myocardial infarction or hypertension. In conclusion, we found one novel loci which underlie genetic variation in microvasculature which may be relevant to vascular disease. The relevance of these findings to clinical outcomes remains to be determined.
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
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http://dx.doi.org/10.1371/journal.pone.0065804
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680438/
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Archived with thanks to PloS one
ae974a485f413a2113503eed53cd6c53
10.1371/journal.pone.0065804
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