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K. V. Ramchand, W. Palin, E. DelBono, M. A. Hauser, R. R. Allingham, M. Pericak-Vance, J. L. Haines, J. L. Wiggs; Fine Mapping of the Chromosome 14 POAG Region and Exclusion of COCH as a Candidate Gene. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5604.
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We have previously completed a whole genome screen and follow-up studies that have identified a locus for POAG susceptibility on chromosome 14q11-12. The purpose of this study is to evaluate single nucleotide polymorphisms (SNPs) located throughout this region for association with POAG and to evaluate the COCH gene, located within this region, as a candidate gene for POAG.
326 POAG patients (65% Caucasian, 35% African- American) and 113 controls (70% Caucasian, 30 % African-American) were used for this study. 53 SNPs were evaluated using the quantitative PCR approach (TaqMan assay). The SNPs were checked for genotyping errors and were evaluated for association with POAG by calculating chi square distribution for genotype frequency and allele frequency.
9 SNPs showed nominal evidence for association (p<0.05). Of these the highest association was found for rs4261445 in the Caucasian patients (p=.0065), and rs928037 in the African-American patients (p=.0063). Neither of these SNPs is located near COCH. Four of the chosen SNPs, rs753216, rs989911, rs766146, and rs2151782 flank the COCH gene and have p values greater than 0.11 for African-American patients and 0.23 for Caucasian patients.
These results provide additional evidence for a POAG locus on chromosome 14q11-q12. However, SNPs within and flanking the COCH gene do not show significant association with POAG in this population. Candidate genes in the vicinity of rs928037 and rs4261445, are currently under investigation.
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