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Genome-wide analyses identify common variants associated with macular telangiectasia type 2
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Genome-wide analyses identify common variants associated with macular telangiectasia type 2
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Journal Article
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
2017
Overview
Melanie Bahlo and colleagues perform the first genome-wide association analysis for macular telangiectasia type 2. They identify three significant loci and report on a potential connection to the glycine/serine metabolism pathway.
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (
P
< 5 × 10
−8
) were identified at three independent loci (rs73171800 at 5q14.3,
P
= 7.74 × 10
−17
; rs715 at 2q34,
P
= 9.97 × 10
−14
; rs477992 at 1p12,
P
= 2.60 × 10
−12
) and then replicated (
P
< 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (
P
= 4.04 × 10
−6
) and serine (
P
= 2.48 × 10
−4
) between MacTel cases and controls.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ 45/43
/ 692/699
/ Adult
/ Aged
/ Animal Genetics and Genomics
/ Child
/ Design
/ Diabetes
/ European Continental Ancestry Group - genetics
/ Female
/ Funding
/ Genetic Predisposition to Disease - genetics
/ Genome-Wide Association Study - methods
/ Genomes
/ Humans
/ Male
/ Polymorphism, Single Nucleotide - genetics
/ Retinal Telangiectasis - genetics
/ Studies
