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Ophthalmologica. 2013;229(1):54-60. doi: 10.1159/000342616. Epub 2012 Sep 28.

Association of genes on chromosome 6, GRIK2 , TMEM217 and TMEM63B (linked to MRPL14 ) with diabetic retinopathy.

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  • 1Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan, ROC.

Abstract

PURPOSE:

Diabetic retinopathy (DR) is one of the most common complications of diabetes mellitus (DM). The susceptibility genes responsible for increasing the risk for DR in type 2 diabetes (T2D) were sought in this study.

METHODS:

A case-control study was carried out, comprising 749 unrelated T2D individuals with (n = 174) and without (n = 575) DR. Genotypic distributions of single nucleotide polymorphisms (SNPs) were determined for subjects with and without DR.

RESULTS:

Eight chromosome 6 SNPs, having the most significant differences, were delineated: rs10499298, rs10499299, rs17827966, rs1224329, rs1150790, rs713050, rs2518344 and rs487083; all were associated with genes TMEM217, MRPL14 and GRIK2. After adjusting for the duration of DM and levels of hemoglobin A(1c), the TT genotype of rs713050, and the AG + AA genotypes of rs2518344 and rs10499298, differed significantly between those with and without DR. Haplotype analysis revealed haplotype C-A-C, residing in rs10499299, rs10499298 and rs17827966, to have significant linkage disequilibrium.

CONCLUSIONS:

We identified new loci on chromosome 6 associated to DR; all loci showed high levels of linkage disequilibrium.

Copyright © 2012 S. Karger AG, Basel.

PMID:
23037145
[PubMed - indexed for MEDLINE]
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