PURPOSE: Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG). We explored the genetic association of these SNPs with subtypes of primary angle closure in a South Indian population. METHODS: The study included three case definitions: primary angle closure/primary angle closure glaucoma (PAC/PACG, N = 180); primary angle closure suspect (PACS, N = 171), and a combined any-angle closure group. Controls consisted of 411 individuals from South India. Genotyping for all three SNPs was performed using the TaqMan allelic discrimination assay. Genetic association was estimated using a χ(2) test statistics and logistic regression. RESULTS: Among the three studied SNPs, significant genetic association was identified for rs1015213 in the PAC/PACG (P = 0.002) and any-angle closure (P = 0.003) analyses. However, no significant genetic association was seen when in PACS subjects (P = 0.052). SNPs rs3753841 and rs11024102 showed no evidence of genetic association with angle-closure phenotypes (P > 0.05) in South Indian participants. CONCLUSIONS: In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with PAC/PACG, confirming prior reports of an association between this region and angle closure glaucoma. Further work with a larger sample size is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.
PURPOSE: Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG). We explored the genetic association of these SNPs with subtypes of primary angle closure in a South Indian population. METHODS: The study included three case definitions: primary angle closure/primary angle closure glaucoma (PAC/PACG, N = 180); primary angle closure suspect (PACS, N = 171), and a combined any-angle closure group. Controls consisted of 411 individuals from South India. Genotyping for all three SNPs was performed using the TaqMan allelic discrimination assay. Genetic association was estimated using a χ(2) test statistics and logistic regression. RESULTS: Among the three studied SNPs, significant genetic association was identified for rs1015213 in the PAC/PACG (P = 0.002) and any-angle closure (P = 0.003) analyses. However, no significant genetic association was seen when in PACS subjects (P = 0.052). SNPs rs3753841 and rs11024102 showed no evidence of genetic association with angle-closure phenotypes (P > 0.05) in South Indian participants. CONCLUSIONS: In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with PAC/PACG, confirming prior reports of an association between this region and angle closure glaucoma. Further work with a larger sample size is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.
Authors: Eranga N Vithana; Chiea-Chuen Khor; Chunyan Qiao; Ningli Wang; Tin Aung; Monisha E Nongpiur; Ronnie George; Li-Jia Chen; Tan Do; Khaled Abu-Amero; Chor Kai Huang; Sancy Low; Liza-Sharmini A Tajudin; Shamira A Perera; Ching-Yu Cheng; Liang Xu; Hongyan Jia; Ching-Lin Ho; Kar Seng Sim; Ren-Yi Wu; Clement C Y Tham; Paul T K Chew; Daniel H Su; Francis T Oen; Sripriya Sarangapani; Nagaswamy Soumittra; Essam A Osman; Hon-Tym Wong; Guangxian Tang; Sujie Fan; Hailin Meng; Dao T L Huong; Hua Wang; Bo Feng; Mani Baskaran; Balekudaru Shantha; Vedam L Ramprasad; Govindasamy Kumaramanickavel; Sudha K Iyengar; Alicia C How; Kelvin Y Lee; Theru A Sivakumaran; Victor H K Yong; Serena M L Ting; Yang Li; Ya-Xing Wang; Wan-Ting Tay; Xueling Sim; Raghavan Lavanya; Belinda K Cornes; Ying-Feng Zheng; Tina T Wong; Seng-Chee Loon; Vernon K Y Yong; Naushin Waseem; Azhany Yaakub; Kee-Seng Chia; R Rand Allingham; Michael A Hauser; Dennis S C Lam; Martin L Hibberd; Shomi S Bhattacharya; Mingzhi Zhang; Yik Ying Teo; Donald T Tan; Jost B Jonas; E-Shyong Tai; Seang-Mei Saw; Do Nhu Hon; Saleh A Al-Obeidan; Jianjun Liu; Tran Nguyen Bich Chau; Cameron P Simmons; Jin-Xin Bei; Yi-Xin Zeng; Paul J Foster; Lingam Vijaya; Tien-Yin Wong; Chi-Pui Pang Journal: Nat Genet Date: 2012-08-26 Impact factor: 38.330
Authors: Ryan Zukerman; Alon Harris; Alice Verticchio Vercellin; Brent Siesky; Louis R Pasquale; Thomas A Ciulla Journal: Genes (Basel) Date: 2020-12-31 Impact factor: 4.096