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Ningpu Liu, Hong Gu, Xiufen Yang, Jun Xu; Association Of Glutathione S-transferase Pi Isoform (gstp1) Single-nucleotide Polymorphisms With Exudative Age-related Macular Degeneration In A Chinese Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3306.
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Macular pigment, composed of mainly lutein and zeaxanthin, is hypothesized to protect against age-related macular degeneration (AMD). The pi isoform of glutathione S-transferase (GSTP1) is a specific zeaxanthin-binding protein in the human macula. This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) in GSTP1 gene and the risk of exudative AMD in a Chinese case-control cohort.
One hundred thirty-one Chinese patients with exudative AMD and 138 control individuals were recruited. Genomic DNA was extracted from venous blood leukocytes. Two common non-synonymous SNPs in GSTP1 (rs1695 and rs4986948) were genotyped by PCR followed by allele-specific restriction enzyme digestion and direct sequencing.
Significant association with exudative AMD was detected for SNP rs1695 (p=0.019). The risk G allele frequencies were 21.8% in AMD cases and 12.7% in controls (p=0.007). Compared with the wild-type AA genotype, odds ratio (OR) for the risk of AMD was 1.91 (95% CI, 1.09-3.35) for the heterozygous AG genotype and 2.52 (95% CI, 0.6-10.61) for the homozygous GG genotype. In contrast, rs4986948 was not associated with exudative AMD (p=1.00). The risk G allele frequencies of rs4986948 were 0.4% in AMD cases and 0.4% in controls (p=1.00).
Our data suggest that the GSTP1 variant rs1695 moderately increases the risk of exudative AMD. The variant rs4986948 was rare and not associated with exudative AMD in this Chinese cohort.
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