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Genetic loci for retinal arteriolar microcirculation


Sim, X and Jensen, RA and Ikram, MK and Cotch, MF and Li, X and MacGregor, S and Xie, J and Smith, AV and Boerwinkle, E and Mitchell, P and Klein, R and Klein, BEK and Glazer, NL and Lumley, T and McKnight, B and Psaty, BM and de Jong, PTVM and Hofman, A and Rivadeneira, F and Uitterlinden, AG and van Duijn, CM and Aspelund, T and Eiriksdottir, G and Harris, TB and Jonasson, F and Launer, LJ and Attia, J and Baird, PN and Harrap, S and Holliday, EG and Inouye, M and Rochtchina, E and Scott, RJ and Viswanathan, A and Li, G and Smith, NL and Wiggins, KL and Kuo, JZ and Taylor, KD and Hewitt, AW and Martin, NG and Montgomery, GW and Sun, C and Young, TL and Mackey, DA and van Zuydam, NR and Doney, ASF and Palmer, CNA and Morris, AD and Rotter, JI and Tai, ES and Gudnason, V and Vingerling, JR and Siscovick, DS and Wang, JJ and Wong, TY and The Wellcome Trust Case Control Consortium; Global BPGen Consortium, Genetic loci for retinal arteriolar microcirculation, PLoS One, 8, (6) Article e65804. ISSN 1932-6203 (2013) [Refereed Article]


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Licensed under Creative Commons Attribution 3.0 Unported (CC BY 3.0)

DOI: doi:10.1371/journal.pone.0065804


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 <510-8. 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 = 2.1110-12 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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:95048
Year Published:2013
Web of Science® Times Cited:18
Deposited By:School of Medicine
Deposited On:2014-09-23
Last Modified:2014-12-10
Downloads:343 View Download Statistics

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