title: Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.
abstract: OBJECTIVE
  To identify genetic variants that predispose to type 2 diabetes (T2D) with cataract.
  
  
  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.affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Hui-Ju
authors.initials: HJ
authors.lastname: Lin
authors.forename: Yu-Chuen
authors.initials: YC
authors.lastname: Huang
authors.forename: Jane-Ming
authors.initials: JM
authors.lastname: Lin
authors.forename: Wen-Ling
authors.initials: WL
authors.lastname: Liao
authors.forename: Jer-Yuarn
authors.initials: JY
authors.lastname: Wu
authors.forename: Chien-Hsiun
authors.initials: CH
authors.lastname: Chen
authors.forename: Yi-Chun
authors.initials: YC
authors.lastname: Chou
authors.forename: Liuh-An
authors.initials: LA
authors.lastname: Chen
authors.forename: Chao-Jen
authors.initials: CJ
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D001794:Blood Pressure; D002386:Cataract / Q000145:classification / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000145:classification / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013624:Taiwan
chemical_list: D001786:Blood Glucose; D006442:Glycated Hemoglobin; C517652:hemoglobin A1c protein, human