(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies.

ABSTRACT:

Background/aims

Phenotypic discordance in monozygotic (MZ) twin pairs can have an epigenetic or genetic basis. Although age-related macular degeneration (AMD) has a strong genetic component, few studies have addressed its epigenetic basis.

Methods

Using SNP arrays, we evaluated differences in copy number variation (CNV) and allele-specific methylation (ASM) patterns (via methyl-sensitive restriction enzyme digestion of DNA) in MZ twin pairs from the US Twin Study of AMD. Further analyses examined the relationship between ASM and CNVs with AMD by both case/control analysis of ASM at candidate regions and by analysis of ASM and CNVs in twins discordant for AMD.

Results

The frequency of ASM sites differs between cases and controls in regions surrounding the AMD candidate

SUBMITTER: Hutchinson JN 

PROVIDER: S-EPMC6476332 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature