PLoS Genetics (Mar 2014)

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

  • Monisha E Nongpiur,
  • Chiea Chuen Khor,
  • Hongyan Jia,
  • Belinda K Cornes,
  • Li-Jia Chen,
  • Chunyan Qiao,
  • K Saidas Nair,
  • Ching-Yu Cheng,
  • Liang Xu,
  • Ronnie George,
  • Do Tan,
  • Khaled Abu-Amero,
  • Shamira A Perera,
  • Mineo Ozaki,
  • Takanori Mizoguchi,
  • Yasuo Kurimoto,
  • Sancy Low,
  • Liza-Sharmini A Tajudin,
  • Ching-Lin Ho,
  • Clement C Y Tham,
  • Ileana Soto,
  • Paul T K Chew,
  • Hon-Tym Wong,
  • Balekudaru Shantha,
  • Masako Kuroda,
  • Essam A Osman,
  • Guangxian Tang,
  • Sujie Fan,
  • Hailin Meng,
  • Hua Wang,
  • Bo Feng,
  • Victor H K Yong,
  • Serena M L Ting,
  • Yang Li,
  • Ya-Xing Wang,
  • Zheng Li,
  • Raghavan Lavanya,
  • Ren-Yi Wu,
  • Ying-Feng Zheng,
  • Daniel H Su,
  • Seng-Chee Loon,
  • Vernon K Y Yong,
  • R Rand Allingham,
  • Michael A Hauser,
  • Nagaswamy Soumittra,
  • Vedam L Ramprasad,
  • Naushin Waseem,
  • Azhany Yaakub,
  • Kee-Seng Chia,
  • Govindasamy Kumaramanickavel,
  • Tina T Wong,
  • Alicia C How,
  • Tran Nguyen Bich Chau,
  • Cameron P Simmons,
  • Jin-Xin Bei,
  • Yi-Xin Zeng,
  • Shomi S Bhattacharya,
  • Mingzhi Zhang,
  • Donald T Tan,
  • Yik-Ying Teo,
  • Saleh A Al-Obeidan,
  • Do Nhu Hon,
  • E-Shyong Tai,
  • Seang-Mei Saw,
  • Paul J Foster,
  • Lingam Vijaya,
  • Jost B Jonas,
  • Tien-Yin Wong,
  • Simon W M John,
  • Chi-Pui Pang,
  • Eranga N Vithana,
  • Ningli Wang,
  • Tin Aung

DOI
https://doi.org/10.1371/journal.pgen.1004089
Journal volume & issue
Vol. 10, no. 3
p. e1004089

Abstract

Read online

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.