Abstract
Purpose :
To determine the association of the ANGPT2 gene with primary open-angle glaucoma (POAG) in Chinese.
Methods :
Six single-nucleotide polymorphisms (SNPs) in ANGPT2 (rs2515487, rs2922869, rs13255574, rs4455855, rs13269021, and rs11775442) were genotyped in a total of 2,601 study subjects from two cohorts. One is a Hong Kong Chinese cohort of 484 high tension glaucoma (HTG) and 537 normal tension glaucoma (NTG) patients, and 496 non-glaucoma control subjects. Another cohort is a Shantou Chinese cohort of 403 HTG and 135 NTG patients, and 543 non-glaucoma control subjects. Subgroup analysis by sex was conducted. Outcomes from different cohorts were combined for a meta-analysis.
Results :
SNP rs11775442 showed a nominal association with NTG in the Hong Kong cohort (P = 0.0498, OR = 1.24, 95% CI: 1.00-1.55) after adjusting for age and sex. Other SNPs were not significantly associated with NTG, HTG and POAG in individual cohort or in the combined analyses (P > 0.05). In the subgroup analysis by sex, SNP rs13269021 in the Shantou cohort was significantly associated with NTG in males (P = 0.0081, OR = 1.67, 95% CI: 1.14-2.43; Table 3) but not in females (P = 0.874).
Conclusions :
For the first time, we identified a sex-specific association of ANGPT2 locus (rs13269021) with NTG in the Shantou cohort, indicating ANGPT2 may have a role in the genetic mechanism of NTG in Chinese males. Further studies are needed to verify the association between ANGPT2 and NTG.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.