Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese... - PubMed - NCBI

Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese... - PubMed - NCBI

Pediatr Cardiol. 2016 Dec;37(8):1548-1561. Epub 2016 Aug 27.

Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population.

Wang F1, Wang H1, Wang L1, Zhou S2, Chang M1, Zhou J1, Dou Y1, Wang Y1, Shi X1.

Author information

Abstract

The nuclear factor of activated T lymphocytes (NFATC1) signaling has been demonstrated to play important roles in cardiac valve and septal development. Genetic variants in genes involved in NFATC1 signaling may affect their expression and promote the formation of congenital heart disease (CHD). The goal of this study was to investigate the associations of single nucleotide polymorphism (SNP) in seven genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6 and ZNRD1) with the risk of CHD. Twenty-nine polymorphisms were genotyped by using MassARRAY RS1000 platform in 277 CHD child patients and 293 controls from the Henan Province in China. Fours SNPs were excluded for the association analysis because of deviation from the Hardy-Weinberg equilibrium. Of the 25 SNPs, only two were found to be significantly associated with increased CHD risk after Bonferroni correction (RANKL, rs4531631: homozygous, AA vs. GG; OR 2.38, 95 % CI 1.40-4.07, p = 0.001; recessive, AA vs. AG + GG; OR 2.54, 95 % CI 1.53-4.22, p = 0.0003; FGFR1, rs13317: recessive, CC vs. CT + TT; OR 2.06, 95 % CI 1.30-3.25, p = 0.00196). Our findings suggest rs4531631 and rs13317 may be potential biomarkers for genetic diagnosis and treatment of CHD.

KEYWORDS:

Congenital heart disease; FGFR1; RANKL; SNP

PMID:

 

27567908

 

DOI:

 

10.1007/s00246-016-1469-5

[PubMed - in process]

From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population.  
  Italian journal of pediatrics 2016 Nov 42 (1): 102.
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