Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

摘要: PURPOSE Age-related macular degeneration (AMD) is a retinal degenerative disease that the leading cause of blindness worldwide in individuals over age 60. Although etiology AMD remains largely unknown, numerous studies have suggested both genetic and environmental influences. A previous study affected multiplex families identified four chromosomal regions potentially harbor susceptibility genes. The purpose our was to further investigate these with additional microsatellite marker coverage independent data set. METHODS We examined on chromosomes 1q, 9p, 10q, 17q for linkage 70 (consisting 133 sibpairs). Two point heterogeneity LOD score (HLOD) nonparametric (MLS) analyses were performed models defined by most severe status either eye. Conditional using apolipoprotein E (APOE) alleles as covariates semiparametric (LOD*) calculations. RESULTS Regions did not provide evidence However, markers D10S1230 D10S1656 chromosome 10q26 generated maximum HLOD scores 1.52 1.13, respectively. Marker also an MLS 1.56 stage 4 5 individuals. Controlling potential effect APOE-epsilon4 allele substantially alter scores. CONCLUSIONS With inclusion this study, at least five sets support 10q26. Such consistency confirmation strongly suggests region should be subject detailed genomic efforts disease.