DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Retinal arteriolar caliber. The EFO term eye measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: eye measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

X Sim, RA Jensen, MK Ikram, MF Cotch, X Li, S MacGregor, J Xie, AV Smith, E Boerwinkle, P Mitchell, R Klein, BE Klein, NL Glazer, T Lumley, B McKnight, BM Psaty, PT de Jong, A Hofman, F Rivadeneira, AG Uitterlinden, CM van Duijn, T Aspelund, G Eiriksdottir, TB Harris, F Jonasson, LJ Launer, J Attia, PN Baird, S Harrap, EG Holliday, M Inouye, E Rochtchina, RJ Scott, A Viswanathan, G Li, NL Smith, KL Wiggins, JZ Kuo, KD Taylor, AW Hewitt, NG Martin, GW Montgomery, C Sun, TL Young, DA Mackey, NR van Zuydam, AS Doney, CN Palmer, AD Morris, JI Rotter, ES Tai, V Gudnason, JR Vingerling, DS Siscovick, JJ Wang, TY Wong

TITLE:

Genetic loci for retinal arteriolar microcirculation.

JOURNAL:

PloS one None 2013, Vol 8, pp. 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. PUBMED: 23776548
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