title: Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.
abstract: GJA8 plays an important role in lens growth and transparency. Therefore, we hypothesized that two single nucleotide polymorphisms (SNPs) in GJA8 might be associated with age-related cataract. We investigated the SNPs rs1495960 and rs9437983 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing, in 96 age-related cataract patients, and 208 gender- and age-matched healthy controls. No significant differences between cases and controls were seen in genotype or allele distributions of rs1495960 (P > 0.05). The allele distribution of rs9437983 was different between cases and controls, but no difference was detected in its genotype distribution. Cataract patients had a significantly lower G-G haplotype frequency (4.9% vs. 15.5%, P = 0.0001), and a significantly higher G-A haplotype frequency (45.6% vs. 36.4%, P = 0.030) than controls. Limiting to nuclear cataract cases significantly increased the differences between cases and controls for G-G and G-A haplotypes. These results support that the GJA8 gene may be a novel susceptibility gene for age-related cataracts.
authors.affiliation: Center for Gene Diagnosis, Zhongnan Hospital, Wuhan University, Wuhan, Hubei, 430071, People's Republic of China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Ke
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.forename: Shuren
authors.initials: S
authors.lastname: Guo
authors.forename: Mane Emily
authors.initials: ME
authors.lastname: Mothobi
authors.forename: Qiang
authors.initials: Q
authors.lastname: Chen
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
mesh_terms: D000368:Aged; D000375:Aging; D000483:Alleles; D002386:Cataract / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D017629:Gap Junctions; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D000099264:Connexin 50