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Gene. 2019 Feb 20;686:160-163. doi: 10.1016/j.gene.2018.10.034. Epub 2018 Oct 12.

The correlation of TGFβ1 gene polymorphisms with congenital heart disease susceptibility.

Author information

1
Department of Cardiology, Chinese PLA General Hospital, Beijing 100853, China.
2
Department of Cardiology, Beijing Chest Hospital, Capital Medical University, Beijing 101149, China.
3
Cardiovascular Disease Institute, PLA Army General Hospital, Beijing 100853, China.
4
Department of Cardiology, Chinese PLA General Hospital, Beijing 100853, China. Electronic address: congensh@yeah.net.

Abstract

OBJECTIVE:

The aim of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) in transforming growth factor beta 1 (TGFβ1) gene (rs1982073 and rs1800471) and congenital heart disease (CHD) susceptibility.

METHODS:

Totally, 145 CHD patients and 140 healthy controls were enrolled in this case-control study. The case and control groups were matched in age and gender. Genotyping for TGFβ1 gene SNPs rs1982073 and rs1800471 was conducted via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach. Chi-square test was used to analyze the association of TGFβ1 polymorphisms with CHD risk. The results were presented as odds ratios (ORs) and 95% confidence intervals (CIs).

RESULTS:

The frequencies of the CT genotype and T allele of TGFβ1 gene SNP rs1982073 were significantly different between cases and controls (P < 0.05), revealing their associations with reduced susceptibility to CHD (OR = 0.521, 95%CI = 0.302-0.897; OR = 0.706, 95%CI = 0.507-0.983). Nevertheless, TGFβ1 gene SNP rs1800471 had no significant association with CHD susceptibility (P > 0.05).

CONCLUSION:

TGFβ1 gene SNP rs1982073 might be correlated with CHD susceptibility, and the T allele might decrease the disease risk. However, TGFβ1 gene polymorphism rs1800471 was not related to CHD risk.

KEYWORDS:

CHD; PCR-RFLP; Polymorphisms; TGFβ1

PMID:
30321660
DOI:
10.1016/j.gene.2018.10.034
[Indexed for MEDLINE]

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