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Benjamin R. Roos, Markus H. Kuehn, Kai Wang, Edwin Stone, Young H. Kwon, Wallace L. Alward, John H. Fingert; Association Study Of Cav1 And Cav2 In Primary Open Angle Glaucoma Patients From Iowa. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2411.
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Recently, a risk factor for POAG was mapped to a chromosome 7q31 locus that contains the caveolin-1 and caveolin-2 genes. We set out to determine the role of this risk factor in glaucoma patients from Iowa.
A cohort of 545 POAG patients and 297 control subjects from Iowa were genotyped at SNP rs4236601 in the chromosome 7q31 locus using an allelic discrimination assay. The allele frequencies and the genotype frequencies of this SNP were compared between patients and controls using chi square analysis.
The minor allele frequency of rs4236601 was 29% in POAG patients and 27% in control subjects. There was no statistical difference detected between allele frequencies of POAG and controls (p-value=0.5). Similarly, no statistical difference was detected among the three possible rs4236601 genotypes in POAG versus controls (p-value=0.22).
The chromosome 7q31 risk factor was first discovered with a genome-wide association study of subjects from Iceland, Sweden, the United Kingdom, Australia, Hong Kong, and China. We were unable to replicate the reported association using POAG patients and control subjects from Iowa, suggesting that this risk factor may not have a strong effect in all POAG populations.
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