title: Association between 1019C/T polymorphism in the connexin 37 gene and dilated cardiomyopathy.
abstract: BACKGROUND
  The aim of this paper was to investigate the association between the connexin 37 (CX37) 1019C/T polymorphism and susceptibility to dilated cardiomyopathy (DCM).
  
  
  METHODS
  Han Chinese diagnosed with DCM between 2005 and 2013 were studied, and they were compared with a control group of 816 persons without DCM from a patient cohort from the Provincial Hospital Affiliated to Anhui Medical University, China. A total of 873 patients with DCM were included. All study and control cases were genotyped by DNA sequencing.
  
  
  RESULTS
  Polymorphism C1019T on the Connexin37 gene (CX37) was found in the whole population. The distribution of three genotype frequencies in both groups was in accordance with Hardy-Weinberg equilibrium. The frequency of the CX37 C allele was higher in DCM patients (57.33% vs. 42.03%, P<0.01) compared to the control group. The frequency of C carriers (CC+TC) was 80.41% in DCM patients, compared to 66.7% in controls (P<0.01). DCM risk was significantly increased in carriers of the C allele (CC+TC) than in TT homozygotes (odds ratio [OR]=2.05, 95% confidence interval [CI]: 1.65-2.56). Subsequent stratified analyses demonstrate that a significant difference exists in the frequency of C carriers between male DCM patients and controls (77.61% vs. 69.04%, P<0.01) and in female DCM patients and controls (85.62 % vs. 62.19%, P<0.01). Carriers of the C allele had higher DCM risk compared with TT homozygotes with sex differences (male: OR=1.64, 95% CI: 1.39-1.95; female: OR=2.32, 95% CI: 1.84-2.94).
  
  
  CONCLUSIONS
  The C allele in the CX37 gene might be associated with susceptibility to DCM in Chinese Han. Female carriers of the C allele had higher DCM risk compared with TT homozygotes than males.
authors.affiliation: The Key Laboratory of Cardiovascular Remodeling and Function Research, Department of Cardiology, Shandong University, Qilu Hospital, Chinese Ministry of Education and Chinese Ministry of Health, Jinan, Shandong, China - guo13665103927@163.com.
authors.forename: J
authors.initials: J
authors.lastname: Tang
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.forename: L Q
authors.initials: LQ
authors.lastname: Hu
authors.forename: Q Y
authors.initials: QY
authors.lastname: Cai
authors.forename: L
authors.initials: L
authors.lastname: Chen
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D012737:Sex Factors; D000097006:Gap Junction alpha-4 Protein
chemical_list: D017630:Connexins; D000097006:Gap Junction alpha-4 Protein