Back to Search Start Over

Cardiac myosin binding protein C and MAP-kinase activating death domain-containing gene polymorphisms and diastolic heart failure

Authors :
Liang Ting Chiang
Jen Kuang Lee
Yin Tsen Huang
Yau-Hung Chen
Shu Wei Huang
Fu-Tien Chiang
Chia Ti Tsai
Cho-Kai Wu
Chuen Den Tseng
Jiunn Lee Lin
Source :
PLoS ONE, Vol 7, Iss 4, p e35242 (2012), PLoS ONE
Publication Year :
2012
Publisher :
Public Library of Science (PLoS), 2012.

Abstract

Objective Myosin binding protein C (MYBPC3) plays a role in ventricular relaxation. The aim of the study was to investigate the association between cardiac myosin binding protein C (MYBPC3) gene polymorphisms and diastolic heart failure (DHF) in a human case-control study. Methods A total of 352 participants of 1752 consecutive patients from the National Taiwan University Hospital and its affiliated hospital were enrolled. 176 patients diagnosed with DHF confirmed by echocardiography were recruited. Controls were matched 1-to-1 by age, sex, hypertension, diabetes, renal function and medication use. We genotyped 12 single nucleotide polymorphisms (SNPs) according to HapMap Han Chinese Beijing databank across a 40 kb genetic region containing the MYBPC3 gene and the neighboring DNA sequences to capture 100% of haplotype variance in all SNPs with minor allele frequencies ≧5%. We also analyzed associations of these tagging SNPs and haplotypes with DHF and linkage disequilibrium (LD) structure of the MYBPC3 gene. Results In a single locus analysis, SNP rs2290149 was associated with DHF (allele-specific p = 0.004; permuted p = 0.031). The SNP with a minor allele frequency of 9.4%, had an odds ratio 2.14 (95% CI 1.25–3.66; p = 0.004) for the additive model and 2.06 for the autosomal dominant model (GG+GA : AA, 95% CI 1.17–3.63; p = 0.013), corresponding to a population attributable risk fraction of 12.02%. The haplotypes in a LD block of rs2290149 (C-C-G-C) was also significantly associated with DHF (odds ratio 2.10 (1.53–2.89); permuted p = 0.029). Conclusions We identified a SNP (rs2290149) among the tagging SNP set that was significantly associated with early DHF in a Chinese population.

Details

Language :
English
ISSN :
19326203
Volume :
7
Issue :
4
Database :
OpenAIRE
Journal :
PLoS ONE
Accession number :
edsair.doi.dedup.....1cb198944793eea17a0a9b72e1317a1e