Association of the CAV1‐CAV2 locus with normal‐tension glaucoma in Chinese and Japanese.

Background: The CAV1‐CAV2 locus has been associated with primary open‐angle glaucoma (POAG) and intraocular pressure. However, its association with normal‐tension glaucoma (NTG) was inconclusive. Therefore, we evaluated this association in Chinese and Japanese. Methods: Two single‐nucleotide polymorphisms (SNPs, rs4236601 and rs1052990) from previous genome‐wide association studies of POAG were genotyped in a total of 2220 study subjects: a Hong Kong Chinese cohort of 537 NTG patients and 490 controls, a Shantou Chinese cohort of 102 NTG and 731 controls and an Osaka Japanese cohort of 153 NTG and 207 controls. Subgroup analysis by gender was conducted. Outcomes from different cohorts were combined using meta‐analysis. Results: SNP rs4236601 was significantly associated with NTG in the two Chinese cohorts (Pmeta =.0019, OR = 4.55, I2 = 0). In contrast, rs4236601 was monomorphic in the Osaka cohort. The association of rs1052990 was insignificant in a meta‐analysis combining Chinese and Japanese cohorts (Pmeta =.81, OR = 1.05; I2 = 64%), and the OR tended towards opposite directions between Chinese (OR = 1.26) and Japanese (OR = 0.69). Gender‐specific effects of the SNPs were not statistically significant in the logistic regression or Breslow‐day tests of ORs (P >.05), although rs4236601 was significant in males (P =.0068; OR = 10.30) but not in females (P =.14; OR = 2.65) in the meta‐analysis of Chinese subjects. Conclusions: In this study, we confirmed the association of rs4236601 at the CAV1‐CAV2 locus with NTG in Chinese. SNP rs4236601 is monomorphic, and rs1052990 tends towards a different direction in the Japanese cohort. Further studies are warranted to verify the ethnic difference and gender‐specific effects of this locus. [ABSTRACT FROM AUTHOR]