Genome-wide Analyses Identify Common Variants Associated with Macular Telangiectasia Type 2

Overview

Journal Nat Genet

Specialty Genetics

Date 2017 Mar 3

PMID 28250457

Citations 63

Authors

Thomas S Scerri

Anna Quaglieri

Carolyn Cai

Jana Zernant

Nori Matsunami

Lisa Baird

Lea Scheppke

Roberto Bonelli

Lawrence A Yannuzzi

Martin Friedlander

Catherine A Egan

Marcus Fruttiger

Mark Leppert

Rando Allikmets

Melanie Bahlo

Affiliations

Soon will be listed here.

Abstract

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) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10; rs715 at 2q34, P = 9.97 × 10; rs477992 at 1p12, P = 2.60 × 10) 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) and serine (P = 2.48 × 10) between MacTel cases and controls.

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