Dataset Information

Genetic loci for retinal arteriolar microcirculation.

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.

SUBMITTER: Sim X

PROVIDER: S-EPMC3680438 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Genetic loci for retinal arteriolar microcirculation.

Sim Xueling X Jensen Richard A RA Ikram M Kamran MK Cotch Mary Frances MF Li Xiaohui X MacGregor Stuart S Xie Jing J Smith Albert Vernon AV Boerwinkle Eric E Mitchell Paul P Klein Ronald R Klein Barbara E K BE Glazer Nicole L NL Lumley Thomas T McKnight Barbara B Psaty Bruce M BM de Jong Paulus T V M PT Hofman Albert A Rivadeneira Fernando F Uitterlinden Andre G AG van Duijn Cornelia M CM Aspelund Thor T Eiriksdottir Gudny G Harris Tamara B TB Jonasson Fridbert F Launer Lenore J LJ Attia John J Baird Paul N PN Harrap Stephen S Holliday Elizabeth G EG Inouye Michael M Rochtchina Elena E Scott Rodney J RJ Viswanathan Ananth A Li Guo G Smith Nicholas L NL Wiggins Kerri L KL Kuo Jane Z JZ Taylor Kent D KD Hewitt Alex W AW Martin Nicholas G NG Montgomery Grant W GW Sun Cong C Young Terri L TL Mackey David A DA van Zuydam Natalie R NR Doney Alex S F AS Palmer Colin N A CN Morris Andrew D AD Rotter Jerome I JI Tai E Shyong ES Gudnason Vilmundur V Vingerling Johannes R JR Siscovick David S DS Wang Jie Jin JJ Wong Tien Y TY

PloS one 20130612 6

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 arteriol ...[more]

PMID: 23776548

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Project description:PurposeTo investigate the changes of the retinal microvascular network and microcirculation in high myopia.DesignA cross-sectional, matched, comparative clinical study.ParticipantsTwenty eyes of 20 subjects with nonpathological high myopia (28 ± 5 years of age) with a refractive error of -6.31 ± 1.23 D (mean ± SD) and 20 eyes of 20 age- and sex-matched control subjects (30 ± 6 years of age) with a refractive error of -1.40 ± 1.00 D were recruited.MethodsOptical coherence tomography angiography (OCTA) was used to image the retinal microvascular network, which was later quantified by fractal analysis (box counting [Dbox], representing vessel density) in both superficial and deep vascular plexuses. The Retinal Function Imager was used to image the retinal microvessel blood flow velocity (BFV). The BFV and microvascular density in the myopia group were corrected for ocular magnification using Bennett's formula.ResultsThe density of both superficial and deep microvascular plexuses was significantly decreased in the myopia group in comparison to the controls (P < .05). The decrease of the microvessel density of the annular zone (0.6-2.5 mm), measured as Dbox, was 2.1% and 2.9% in the superficial and deep vascular plexuses, respectively. Microvessel density reached a plateau from 0.5 mm to 1.25 mm from the fovea in both groups, but that in the myopic group was about 3% lower than the control group. No significant differences were detected between the groups in retinal microvascular BFV in either arterioles or venules (P > .05). Microvascular densities in both superficial (r = -0.45, P = .047) and deep (r = -0.54, P = .01) vascular plexuses were negatively correlated with the axial lengths in the myopic eye. No correlations were observed between BFV and vessel density (P > .05).ConclusionsRetinal microvascular decrease was observed in the high myopia subjects, whereas the retinal microvessel BFV remained unchanged. The retinal microvascular network alteration may be attributed to ocular elongation that occurs with the progression of myopia. The novel quantitative analyses of the retinal microvasculature may help to characterize the underlying pathophysiology of myopia and enable early detection and prevention of myopic retinopathy.

Dataset Information

Genetic loci for retinal arteriolar microcirculation.

Publications

Genetic loci for retinal arteriolar microcirculation.

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