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Cardiac myosin binding protein C and MAP-kinase activating death domain-containing gene polymorphisms and diastolic heart failure
- 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.
- Subjects :
- Male
Linkage disequilibrium
Critical Care and Emergency Medicine
lcsh:Medicine
Cardiovascular
Linkage Disequilibrium
Gene Frequency
Guanine Nucleotide Exchange Factors
lcsh:Science
Genetics
Clinical Chemistry
Multidisciplinary
Middle Aged
Clinical Laboratory Sciences
Echocardiography
Hypertension
Medicine
Female
Research Article
Death Domain Receptor Signaling Adaptor Proteins
medicine.medical_specialty
Clinical Research Design
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
Diagnostic Medicine
Internal medicine
medicine
Humans
SNP
Genetic Predisposition to Disease
Allele
Allele frequency
Aged
Heart Failure
Clinical Genetics
Evolutionary Biology
Heart Failure, Diastolic
Population Biology
Acute Cardiovascular Problems
Haplotype
lcsh:R
Computational Biology
Odds ratio
Minor allele frequency
Endocrinology
Haplotypes
Case-Control Studies
Genetics of Disease
Genetic Polymorphism
lcsh:Q
Carrier Proteins
Population Genetics
Gene Deletion
Subjects
Details
- Language :
- English
- ISSN :
- 19326203
- Volume :
- 7
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....1cb198944793eea17a0a9b72e1317a1e