Chromosome 7q31 XXXX locus: ocular expression of caveolins and lack of association with @entity725 in a US cohort.

@entity1 @entity725 @entity65032 @entity30716 @entity726 @entity5689
PURPOSE: To determine the role of the recently discovered @entity725 ( @entity725 ) risk factor mapped to chromosome 7q31 in @entity726 @entity1 from Iowa and to determine the expression pattern of genes in the locus in @entity1 eyes. METHODS: A cohort of 545 @entity725 @entity1 and 297 control subjects from Iowa were genotyped with a single nucleotide polymorphism (SNP; @entity65032 ) in the chromosome 7q31 locus using a quantitative polymerase chain reaction (PCR) assay. The expression of genes within the 7q31 locus, @entity5689 ( @entity5689 ) and @entity30716 ( @entity30716 ) in @entity1 eyes was investigated with immunohistochemistry. RESULTS: The minor allele frequency (MAF) of @entity65032 was 27% in control subjects and 29% in @entity725 @entity1 . We detected no statistical difference when we compared the allele frequencies of @entity65032 between @entity725 @entity1 and control subjects (p=0.5). Similarly, we detected no statistical difference in the frequency of the three possible @entity65032 genotypes between @entity1 and controls (p=0.22). Immunohistochemistry showed caveolin expression in @entity1 retina, ciliary muscle, trabecular meshwork, and Schlemm's canal. In our small cohort of donor eyes, the genotype of @entity65032 did not obviously influence labeling intensity or distribution of @entity5689 and @entity30716 in the retina. CONCLUSIONS: A genome-wide association study of subjects from Iceland mapped the first common genetic risk factor for @entity725 to a small region of the genome on chromosome 7q31 that contains the caveolin genes @entity5689 and @entity30716 . We were unable to detect this association in our @entity1 from Iowa, suggesting that this risk factor may not have a strong effect in all populations.
