10.1371/journal.pgen.1001167
Klaus Stark
Klaus
Stark
Ulrike B. Esslinger
Ulrike
B. Esslinger
Wibke Reinhard
Wibke
Reinhard
George Petrov
George
Petrov
Thomas Winkler
Thomas
Winkler
Michel Komajda
Michel
Komajda
Richard Isnard
Richard
Isnard
Philippe Charron
Philippe
Charron
Eric Villard
Eric
Villard
François Cambien
François
Cambien
Laurence Tiret
Laurence
Tiret
Marie-Claude Aumont
Marie-Claude
Aumont
Olivier Dubourg
Olivier
Dubourg
Jean-Noël Trochu
Jean-Noël
Trochu
Laurent Fauchier
Laurent
Fauchier
Pascal DeGroote
Pascal
DeGroote
Anette Richter
Anette
Richter
Bernhard Maisch
Bernhard
Maisch
Thomas Wichter
Thomas
Wichter
Christa Zollbrecht
Christa
Zollbrecht
Martina Grassl
Martina
Grassl
Heribert Schunkert
Heribert
Schunkert
Patrick Linsel-Nitschke
Patrick
Linsel-Nitschke
Jeanette Erdmann
Jeanette
Erdmann
Jens Baumert
Jens
Baumert
Thomas Illig
Thomas
Illig
Norman Klopp
Norman
Klopp
H.-Erich Wichmann
H.-Erich
Wichmann
Christa Meisinger
Christa
Meisinger
Wolfgang Koenig
Wolfgang
Koenig
Peter Lichtner
Peter
Lichtner
Thomas Meitinger
Thomas
Meitinger
Arne Schillert
Arne
Schillert
Inke R. König
Inke
R. König
Roland Hetzer
Roland
Hetzer
Iris M. Heid
Iris
M. Heid
Vera Regitz-Zagrosek
Vera
Regitz-Zagrosek
Christian Hengstenberg
Christian
Hengstenberg
Genetic Association Study Identifies <em>HSPB7</em> as a Risk Gene for Idiopathic Dilated Cardiomyopathy
Public Library of Science
2010
identifies
idiopathic
dilated
cardiomyopathy
2010-10-21 00:16:46
Dataset
https://plos.figshare.com/articles/dataset/Genetic_Association_Study_Identifies_HSPB7_as_a_Risk_Gene_for_Idiopathic_Dilated_Cardiomyopathy/141006
<div><p>Dilated cardiomyopathy (DCM) is a structural heart disease with strong genetic background. Monogenic forms of DCM are observed in families with mutations located mostly in genes encoding structural and sarcomeric proteins. However, strong evidence suggests that genetic factors also affect the susceptibility to idiopathic DCM. To identify risk alleles for non-familial forms of DCM, we carried out a case-control association study, genotyping 664 DCM cases and 1,874 population-based healthy controls from Germany using a 50K human cardiovascular disease bead chip covering more than 2,000 genes pre-selected for cardiovascular relevance. After quality control, 30,920 single nucleotide polymorphisms (SNP) were tested for association with the disease by logistic regression adjusted for gender, and results were genomic-control corrected. The analysis revealed a significant association between a SNP in <em>HSPB7</em> gene (rs1739843, minor allele frequency 39%) and idiopathic DCM (p = 1.06×10<sup>−6</sup>, OR = 0.67 [95% CI 0.57–0.79] for the minor allele T). Three more SNPs showed p < 2.21×10<sup>−5</sup>. <em>De novo</em> genotyping of these four SNPs was done in three independent case-control studies of idiopathic DCM. Association between SNP rs1739843 and DCM was significant in all replication samples: Germany (n = 564, n = 981 controls, p = 2.07×10<sup>−3</sup>, OR = 0.79 [95% CI 0.67–0.92]), France 1 (n = 433 cases, n = 395 controls, p = 3.73×10<sup>−3</sup>, OR = 0.74 [95% CI 0.60–0.91]), and France 2 (n = 249 cases, n = 380 controls, p = 2.26×10<sup>−4</sup>, OR = 0.63 [95% CI 0.50–0.81]). The combined analysis of all four studies including a total of n = 1,910 cases and n = 3,630 controls showed highly significant evidence for association between rs1739843 and idiopathic DCM (p = 5.28×10<sup>−13</sup>, OR = 0.72 [95% CI 0.65–0.78]). None of the other three SNPs showed significant results in the replication stage.</p><p>This finding of the <em>HSPB7</em> gene from a genetic search for idiopathic DCM using a large SNP panel underscores the influence of common polymorphisms on DCM susceptibility.</p></div>