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Transforming Growth Factor-β1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level
- Source :
- PLoS ONE, PLoS ONE, Vol 11, Iss 7, p e0158676 (2016)
- Publication Year :
- 2015
-
Abstract
- Background Familial sick sinus syndrome is associated with gene mutations and dysfunction of ion channels. In contrast, degenerative fibrosis of the sinus node tissue plays an important role in the pathogenesis of acquired sick sinus syndrome. There is a close relationship between transforming growth factor-β1 mediated cardiac fibrosis and acquired arrhythmia. It is of interest to examine whether transforming growth factor-β1 is involved in the pathogenesis of acquired sick sinus syndrome. Methods Overall, 110 patients with acquired SSS and 137 age/gender-matched controls were screened for transforming growth factor-β1 and cardiac sodium channel gene polymorphisms using gene sequencing or restriction fragment length polymorphism methods. An enzyme-linked immunosorbent assay was used to determine the serum level of transforming growth factor-β1. Results Two transforming growth factor-β1 gene polymorphisms (C-509T and T+869C) and one cardiac sodium channel gene polymorphism (H588R) have been identified. The C-dominant CC/CT genotype frequency of T869C was significantly higher in acquired sick sinus syndrome patients than in controls (OR 2.09, 95% CI 1.16–3.75, P = 0.01). Consistently, the level of serum transforming growth factor-β1 was also significantly greater in acquired sick sinus syndrome group than in controls (5.3±3.4 ng/ml vs. 3.7±2.4 ng/ml, P = 0.01). In addition, the CC/CT genotypes showed a higher transforming growth factor-β1 serum level than the TT genotype (4.25 ± 2.50 ng/ml vs. 2.71± 1.76 ng/ml, P = 0.028) in controls. Conclusion Transforming growth factor-β1 T869C polymorphism, correlated with high serum transforming growth factor-β1 levels, is associated with susceptibility to acquired sick sinus syndrome.
- Subjects :
- 0301 basic medicine
Male
Serum Proteins
Cell signaling
Heredity
Physiology
lcsh:Medicine
Gene Expression
Artificial Gene Amplification and Extension
030204 cardiovascular system & hematology
Gene mutation
Signal transduction
Gastroenterology
Biochemistry
Polymerase Chain Reaction
Linkage Disequilibrium
NAV1.5 Voltage-Gated Sodium Channel
Pathogenesis
0302 clinical medicine
Endocrinology
Gene Frequency
Fibrosis
Genotype
Medicine and Health Sciences
lcsh:Science
Aged, 80 and over
Sick Sinus Syndrome
Multidisciplinary
Signaling cascades
Middle Aged
Genetic Mapping
Female
Research Article
medicine.medical_specialty
Cell biology
Variant Genotypes
Biology
Research and Analysis Methods
Polymorphism, Single Nucleotide
Sick sinus syndrome
Transforming Growth Factor beta1
03 medical and health sciences
Internal medicine
Growth Factors
medicine
Genetics
Humans
Genetic Predisposition to Disease
Molecular Biology Techniques
Molecular Biology
Aged
Evolutionary Biology
Population Biology
Endocrine Physiology
Haplotype
lcsh:R
Biology and Life Sciences
Proteins
medicine.disease
030104 developmental biology
Haplotypes
TGF-beta signaling cascade
Immunology
lcsh:Q
Gene polymorphism
Population Genetics
Transforming growth factor
Developmental Biology
Subjects
Details
- ISSN :
- 19326203
- Volume :
- 11
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- PloS one
- Accession number :
- edsair.doi.dedup.....31c7c455d423212dba25d814a43a45f4