Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.

ABSTRACT: Chronic venous disease (CVD) is a multifactorial condition representing one of the most common disorders among populations of Western countries. The heritability of about 17% suggests genetic risk factors in CVD etiology. However, so far the genetic causes are unknown. We undertook the hitherto first genome-wide association study (GWAS) for CVD, analyzing more than 1.93 M SNPs in 4,942 German individuals, followed by replication in two independent German data sets. The combined analysis of discovery and replication stages (2,269 cases and 7,765 controls) yielded robust associations within the two genes EFEMP1 and KCNH8 (rs17278665, rs727139 with P < 5 × 10^-8), and suggestive association within gene SKAP2 (rs2030136 with P < 5 × 10^-7). Association signals of rs17278665

SUBMITTER: Ellinghaus E 

PROVIDER: S-EPMC5379489 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature