The British journal of ophthalmology · 2026
Association of polymorphisms in 17 loci with primary open-angle glaucoma in Chinese and Japanese.
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Chen Shu Ying, Ling Anni, Chan Poemen P, Huang Chukai, Kawashima Rumi, Usui Shinichi, Matsushita Kenji, Tam Pancy O, Young Alvin L, Yam Jason C, Nishida Kohji, Tsujikawa Motokazu, Zhang Mingzhi, Pang Chi Pui, Tham Clement C, Chen Li Jia
Аннотация
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: AFAP1 rs938604 (Pmeta =6.40×10-5, OR=0.70), FNDC3B rs62283813 (Pmeta =0.0050, OR=1.24) and GAS7 rs9913911 (Pmeta =0.0060, OR=1.19). In subgroup analysis, these three SNPs showed stronger association with HTG: AFAP1 rs938604 (Pmeta =8.00×10-6, OR=0.59), FNDC3B rs62283813 (Pmeta =6.00×10-7, OR=1.55) and GAS7 rs9913911 (Pmeta =0.0040, OR=1.24). In addition, SPRED2 rs4414666 (Pmeta =8.00×10-4, OR=1.29) was also significantly associated with HTG. No SNP showed a significant association with NTG.
CONCLUSIONS: This study confirms AFAP1 rs938604, FNDC3B rs62283813, GAS7 rs9913911 and SPRED2 rs4414666 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.
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: AFAP1 rs938604 (Pmeta =6.40×10-5, OR=0.70), FNDC3B rs62283813 (Pmeta =0.0050, OR=1.24) and GAS7 rs9913911 (Pmeta =0.0060, OR=1.19). In subgroup analysis, these three SNPs showed stronger association with HTG: AFAP1 rs938604 (Pmeta =8.00×10-6, OR=0.59), FNDC3B rs62283813 (Pmeta =6.00×10-7, OR=1.55) and GAS7 rs9913911 (Pmeta =0.0040, OR=1.24). In addition, SPRED2 rs4414666 (Pmeta =8.00×10-4, OR=1.29) was also significantly associated with HTG. No SNP showed a significant association with NTG.
CONCLUSIONS: This study confirms AFAP1 rs938604, FNDC3B rs62283813, GAS7 rs9913911 and SPRED2 rs4414666 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.