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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?

SUBMITTER: Ellinghaus E

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

REPOSITORIES: biostudies-literature

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

Ellinghaus Eva E Ellinghaus David D Krusche Petra P Greiner Aljoscha A Schreiber Claudia C Nikolaus Susanna S Gieger Christian C Strauch Konstantin K Lieb Wolfgang W Rosenstiel Philip P Frings Norbert N Fiebig Andreas A Schreiber Stefan S Franke Andre A

Scientific reports 20170404

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 disco ...[more]

PMID: 28374850

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