Association of polymorphisms in 17 loci with primary open-angle glaucoma in Chinese and Japanese.

PURPOSE

To evaluate the associations of single-nucleotide polymorphisms (SNPs) in 17 loci with primary open-angle glaucoma (POAG) and subtypes in Chinese and Japanese.

METHODS

17 SNPs in 17 genes, selected from a recent genome-wide association study, were genotyped in a Hong Kong Chinese cohort of 1093 POAG patients, including 557 high-tension glaucoma (HTG) and 536 normal-tension glaucoma (NTG) patients, and 584 controls. Seven SNPs showing association in the Hong Kong cohort were genotyped in a Shantou Chinese cohort of 155 POAG patients and 380 controls and an Osaka Japanese cohort of 254 POAG patients and 207 controls. The SNP-disease association of individual and pooled cohorts was analysed.

RESULTS

In combined Chinese and Japanese subjects, three SNPs were significantly associated with

POAG

rs938604 (=6.40×10, OR=0.70),rs62283813 (=0.0050, OR=1.24) andrs9913911 (=0.0060, OR=1.19). In subgroup analysis, these three SNPs showed stronger association with

HTG

rs938604 (=8.00×10, OR=0.59),rs62283813 (=6.00×10, OR=1.55) andrs9913911 (=0.0040, OR=1.24). In addition,rs4414666 (=8.00×10, OR=1.29) was also significantly associated with HTG. No SNP showed a significant association with NTG.

CONCLUSIONS

This study confirmsrs938604,rs62283813,rs9913911 andrs4414666 as HTG-specific loci in Chinese and Japanese populations. These findings provide new insights into the genetic architecture of POAG, highlighting distinct molecular mechanisms between HTG and NTG subtypes.