Genetic Loci for Retinal Arteriolar Microcirculation

Sim X., Jensen R.A., Ikram M.K., Cotch M.F., Li X., MacGregor S., Xie J., Smith A.V., Boerwinkle E., Mitchell P., Klein R., Klein B.E.K., Glazer N.L., Lumley T., McKnight B., Psaty B.M., de Jong P.T.V.M., Hofman A., Rivadeneira F., Uitterlinden A.G., van Duijn C.M., Aspelund T., Eiriksdottir G., Harris T.B., Jonasson F., Launer L.J., Attia J., Baird P.N., Harrap S., Holliday E.G., Inouye M., Rochtchina E., Scott R.J., Viswanathan A., Li G., Smith N.L., Wiggins K.L., Kuo J.Z., Taylor K.D., Hewitt A.W., Martin N.G., Montgomery G.W., Sun C., Young T.L., Mackey D.A., van Zuydam N.R., Doney A.S.F., Palmer C.N.A., Morris A.D., Rotter J.I., Tai E.S., Gudnason V., Vingerling J.R., Siscovick D.S., Wang J.J. and Wong T.Y. (2013) Genetic Loci for Retinal Arteriolar Microcirculation. PLoS ONE, 8 6: e65804.1-e65804.12. doi:10.1371/journal.pone.0065804


Author Sim X.
Jensen R.A.
Ikram M.K.
Cotch M.F.
Li X.
MacGregor S.
Xie J.
Smith A.V.
Boerwinkle E.
Mitchell P.
Klein R.
Klein B.E.K.
Glazer N.L.
Lumley T.
McKnight B.
Psaty B.M.
de Jong P.T.V.M.
Hofman A.
Rivadeneira F.
Uitterlinden A.G.
van Duijn C.M.
Aspelund T.
Eiriksdottir G.
Harris T.B.
Jonasson F.
Launer L.J.
Attia J.
Baird P.N.
Harrap S.
Holliday E.G.
Inouye M.
Rochtchina E.
Scott R.J.
Viswanathan A.
Li G.
Smith N.L.
Wiggins K.L.
Kuo J.Z.
Taylor K.D.
Hewitt A.W.
Martin N.G.
Montgomery G.W.
Sun C.
Young T.L.
Mackey D.A.
van Zuydam N.R.
Doney A.S.F.
Palmer C.N.A.
Morris A.D.
Rotter J.I.
Tai E.S.
Gudnason V.
Vingerling J.R.
Siscovick D.S.
Wang J.J.
Wong T.Y.
Title Genetic Loci for Retinal Arteriolar Microcirculation
Journal name PLoS ONE   Check publisher's open access policy
ISSN 1932-6203
Publication date 2013-06-12
Year available 2013
Sub-type Article (original research)
DOI 10.1371/journal.pone.0065804
Open Access Status DOI
Volume 8
Issue 6
Start page e65804.1
End page e65804.12
Total pages 12
Place of publication San Francisco, United States
Publisher Public Library of Science (PLoS)
Collection year 2014
Language eng
Subject 1100 Agricultural and Biological Sciences
1300 Biochemistry, Genetics and Molecular Biology
2700 Medicine
Formatted 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
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