PURPOSE: To identify genetic variants that predispose to type 2 diabetes (T2D) with cataract. PATIENTS AND METHODS: Genome-wide association study (GWAS) of T2D patients with cataract, as graded by Lens Opacities Classification System (LOCS). A total of 109 T2D patients with cataract score equal to or above 10 designated as the study group, 649 T2D patients with cataract score equal to or below 3 as the control group. Single nucleotide polymorphisms (SNPs) with p-values < 10(-5) were considered to be putatively associated with the diabetic cataract. RESULTS: Fifteen SNPs were found to be putatively associated with diabetic cataract. These variants were located near the following genes: PPARD, CCDC102A, GBA3, NEDD9, GABRR1/2, RPS6KA2, tcag7.1163, TAC1, GALNTL1 and KIAA1671. We defined haplotype 1 to haplotype 4 from the alternative alleles of related polymorphisms. Distribution of haplotype 2 on chromosome 4 and haplotype 4 on chromosome 7 revealed significant differences (OR = 1.86 and 1.69, respectively; 95% confidence interval were 1.26-2.76 and 1.23-2.31, respectively). CONCLUSIONS: The 15 loci coded on chromosomes 4, 6, 7, 14, 16 and 22 were associated with diabetic cataract. Gene functions are either with mechanisms of regulating blood sugar or formation of cataract. High linkage disequilibrium appeared on chromosome 4p15.31 and chromosome 7q21.3.
PURPOSE: To identify genetic variants that predispose to type 2 diabetes (T2D) with cataract. PATIENTS AND METHODS: Genome-wide association study (GWAS) of T2D patients with cataract, as graded by Lens Opacities Classification System (LOCS). A total of 109 T2D patients with cataract score equal to or above 10 designated as the study group, 649 T2D patients with cataract score equal to or below 3 as the control group. Single nucleotide polymorphisms (SNPs) with p-values < 10(-5) were considered to be putatively associated with the diabetic cataract. RESULTS: Fifteen SNPs were found to be putatively associated with diabetic cataract. These variants were located near the following genes: PPARD, CCDC102A, GBA3, NEDD9, GABRR1/2, RPS6KA2, tcag7.1163, TAC1, GALNTL1 and KIAA1671. We defined haplotype 1 to haplotype 4 from the alternative alleles of related polymorphisms. Distribution of haplotype 2 on chromosome 4 and haplotype 4 on chromosome 7 revealed significant differences (OR = 1.86 and 1.69, respectively; 95% confidence interval were 1.26-2.76 and 1.23-2.31, respectively). CONCLUSIONS: The 15 loci coded on chromosomes 4, 6, 7, 14, 16 and 22 were associated with diabetic cataract. Gene functions are either with mechanisms of regulating blood sugar or formation of cataract. High linkage disequilibrium appeared on chromosome 4p15.31 and chromosome 7q21.3.
Authors: Ekaterina Yonova-Doing; Wanting Zhao; Robert P Igo; Chaolong Wang; Periasamy Sundaresan; Kristine E Lee; Gyungah R Jun; Alexessander Couto Alves; Xiaoran Chai; Anita S Y Chan; Mei Chin Lee; Allan Fong; Ava G Tan; Chiea Chuen Khor; Emily Y Chew; Pirro G Hysi; Qiao Fan; Jacqueline Chua; Jaeyoon Chung; Jiemin Liao; Johanna M Colijn; Kathryn P Burdon; Lars G Fritsche; Maria K Swift; Maryam H Hilmy; Miao Ling Chee; Milly Tedja; Pieter W M Bonnemaijer; Preeti Gupta; Queenie S Tan; Zheng Li; Eranga N Vithana; Ravilla D Ravindran; Soon-Phaik Chee; Yuan Shi; Wenting Liu; Xinyi Su; Xueling Sim; Yang Shen; Ya Xing Wang; Hengtong Li; Yih-Chung Tham; Yik Ying Teo; Tin Aung; Kerrin S Small; Paul Mitchell; Jost B Jonas; Tien Yin Wong; Astrid E Fletcher; Caroline C W Klaver; Barbara E K Klein; Jie Jin Wang; Sudha K Iyengar; Christopher J Hammond; Ching-Yu Cheng Journal: Commun Biol Date: 2020-12-11
Authors: Denise Anderson; Heather J Cordell; Michaela Fakiola; Richard W Francis; Genevieve Syn; Elizabeth S H Scaman; Elizabeth Davis; Simon J Miles; Toby McLeay; Sarra E Jamieson; Jenefer M Blackwell Journal: PLoS One Date: 2015-03-11 Impact factor: 3.240
Authors: Cheng Chang; Kaida Zhang; Abirami Veluchamy; Harry L Hébert; Helen C Looker; Helen M Colhoun; Colin N A Palmer; Weihua Meng Journal: Invest Ophthalmol Vis Sci Date: 2016-04-01 Impact factor: 4.799