Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Nat Genet. 2012 Oct;44(10):1142-1146. doi: 10.1038/ng.2390. Epub 2012 Aug 26.

Abstract

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Case-Control Studies
  • Collagen Type XI / genetics*
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Glaucoma, Angle-Closure / genetics*
  • Humans
  • Logistic Models
  • Polymorphism, Single Nucleotide
  • Principal Component Analysis
  • Protein D-Aspartate-L-Isoaspartate Methyltransferase / genetics*
  • Repressor Proteins / genetics

Substances

  • COL11A1 protein, human
  • Carrier Proteins
  • Collagen Type XI
  • PLEKHA7 protein, human
  • Repressor Proteins
  • ST18 protein, human
  • Protein D-Aspartate-L-Isoaspartate Methyltransferase