Document Detail

Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.
MedLine Citation:
PMID:  23137000     Owner:  NLM     Status:  MEDLINE    
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.
Hui-Ju Lin; Yu-Chuen Huang; Jane-Ming Lin; Wen-Ling Liao; Jer-Yuarn Wu; Chien-Hsiun Chen; Yi-Chun Chou; Liuh-An Chen; Chao-Jen Lin; Fuu-Jen Tsai
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-11-09
Journal Detail:
Title:  Ophthalmic genetics     Volume:  34     ISSN:  1744-5094     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:    2013 Mar-Jun
Date Detail:
Created Date:  2013-04-09     Completed Date:  2013-08-21     Revised Date:  2014-07-31    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  35-42     Citation Subset:  IM    
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MeSH Terms
Asian Continental Ancestry Group / genetics
Blood Glucose / metabolism
Blood Pressure
Cataract / classification,  genetics*
Chromosomes, Human, Pair 3 / genetics
Chromosomes, Human, Pair 7 / genetics
Diabetes Mellitus, Type 2 / classification,  genetics*
Genetic Predisposition to Disease / genetics*
Genome-Wide Association Study
Hemoglobin A, Glycosylated / metabolism
Linkage Disequilibrium
Middle Aged
Polymorphism, Single Nucleotide*
Risk Factors
Reg. No./Substance:
0/Blood Glucose; 0/Hemoglobin A, Glycosylated; 0/hemoglobin A1c protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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