Single nucleotide polymorphism (SNP)-strings: an alternative method for assessing genetic associations.

ABSTRACT:

Background

Genome-wide association studies (GWAS) identify disease-associations for single-nucleotide-polymorphisms (SNPs) from scattered genomic-locations. However, SNPs frequently reside on several different SNP-haplotypes, only some of which may be disease-associated. This circumstance lowers the observed odds-ratio for disease-association.

Methodology/principal findings

Here we develop a method to identify the two SNP-haplotypes, which combine to produce each person's SNP-genotype over specified chromosomal segments. Two multiple sclerosis (MS)-associated genetic regions were modeled; DRB1 (a Class II molecule of the major histocompatibility complex) and MMEL1 (an endopeptidase that degrades both neuropeptides and β-amyloid). For each locus, we considered sets of eleven

SUBMITTER: Goodin DS 

PROVIDER: S-EPMC3984082 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature