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Calvin C P Pang, Shiyao Lu, Clement C Y Tham, Chukai Huang, Motokazu Tsujikawa, Kohji Nishida, Mingzhi Zhang, Li Jia Chen; Association of the CAV1/CAV2 locus with Normal Tension Glaucoma in East Asians. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1624.
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To evaluate the association between the CAV1//CAV2 locus and normal tension glaucoma (NTG) in Chinese and Japanese populations.
Eight single-nucleotide polymorphisms (SNPs) in the CAV1/CAV2 locus were analyzed for association in a Hong Kong Chinese cohort of 537 NTG patients and 490 controls. They were rs4236601 and rs1052990, reported in genome-wide association studies (GWAS) of primary open-angle glaucoma, and 6 haplotype-tagging SNPs (rs6466579, rs7801950, rs3779512, rs3807989, rs3801994 and rs1049337). SNPs showing significant association were further analyzed in another Chinese cohort from Shantou (102 patients and 731 controls) and a Japanese cohort from Osaka (153 patients and 207 controls). Results from the three cohorts were combined using meta-analysis.
Only one SNP, rs4236601, showed significant association with NTG, which is in the Hong Kong and Shantou Chinese cohorts (Pmeta=0.0010, OR=3.99, I2=0). After stratification by gender, rs4236601 was strongly associated with NTG in males (Pmeta=0.0015, OR=11.77, I2=0), but not in females (Pmeta=0.38, OR=1.71, I2=0). This SNP is non-polymorphic in the Osaka cohort. Another SNP, rs1052990, was associated with NTG in Hong Kong males (G allele; OR=1.49, P=0.036), but it showed an opposite effect in Osaka males (OR=0.54, P=0.037).
SNP rs4236601 is significantly associated with NTG in Chinese. Both rs4236601 and rs1052990 showed gender-specific association with NTG and had stronger impacts on males than females. Additionally, rs1052990 showed different trends of effect between Chinese and Japanese males. Results of this study suggest ethnic and gender diversities in the association of CAV1/CAV2 SNPs with NTG.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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