Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region.

ABSTRACT:

Aim

To present results from a nested association study of the complement factor H (CFH) gene region using a novel methodology that uses a high-resolution genetic linkage disequilibrium map to estimate a point location for a causal mutation.

Method

Age-related macular degeneration (AMD) case-control data from a genomewide single-nucleotide polymorphism (SNP) panel were used to identify the target interval to be genotyped at higher density in a second independent panel. The pattern of linkage disequilibrium (LD) and segmental duplications across this region are described in detail.

Result

Data were consistent with other studies in that strong association between the Y402H variant and AMD is observed. However, composite likelihood analysis, which combines association dat

SUBMITTER: Ennis S 

PROVIDER: S-EPMC1955647 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature