Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation.

ABSTRACT: Risk alleles for complex diseases are widely spread throughout human populations. However, little is known about the geographic distribution and frequencies of risk alleles, which may contribute to differences in disease susceptibility and prevalence among populations. Here, we focus on Crohn's disease (CD) as a model for the evolutionary study of complex disease alleles. Recent genome-wide association studies and classical linkage analyses have identified more than 70 susceptible genomic regions for CD in Europeans, but only a few have been confirmed in non-European populations. Our analysis of eight European-specific susceptibility genes using HapMap data shows that at the NOD2 locus the CD-risk alleles are linked with a haplotype specific to CEU at a frequency that is significantly high

SUBMITTER: Nakagome S 

PROVIDER: S-EPMC3697811 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature