Behcet's disease risk association fine-mapped on the IL23R-IL12RB2 intergenic region in Koreans.

ABSTRACT:

Background

Behçet's disease (BD) susceptibility had been associated with single-nucleotide polymorphisms (SNPs) in IL23R-IL12RB2, IL10, STAT4, or ERAP1 locus in Japanese, Turkish, Chinese, and other populations, but not in a Korean genome-wide association study (GWAS). We aimed to fine-map BD risk association of these four loci using extensive imputation and additional genotyping for replication.

Methods

In the discovery phase, 369 patients with BD enrolled in the previous Korean GWAS and 2000 controls retrieved from a population-based cohort of healthy Koreans were imputed for their genotypes of all SNPs in the four loci using the Asian data of the 1000 Genomes Project as reference. For genotype imputation of ERAP1 SNPs, the adjacent ERAP2 SNPs were also covered. For the 10

SUBMITTER: Kang EH 

PROVIDER: S-EPMC5633897 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature