title: Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population.
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.
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Fengyu
authors: F
authors: Wang
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Haili
authors: H
authors: Wang
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Lina
authors: L
authors: Wang
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China. hnsy189@hotmail.com.
authors: Shiyuan
authors: S
authors: Zhou
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Mingxiu
authors: M
authors: Chang
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Jiping
authors: J
authors: Zhou
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Yongheng
authors: Y
authors: Dou
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Yanli
authors: Y
authors: Wang
authors: Henan Research Institute of Population and Family Planning, National Health and Family Planning Commission Key Laboratory of Birth Defects Prevention, No. 26, Jingwu Road, Jinshui, Zhengzhou, 450002, China.
authors: Xiangdong
authors: X
authors: Shi
mesh_terms: D044466:Asian People; D016022:Case-Control Studies; D002681:China; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital; D006801:Humans; D050778:NFATC Transcription Factors; D020641:Polymorphism, Single Nucleotide
chemical_list: D050778:NFATC Transcription Factors; C494003:NFATC1 protein, human
keywords: Congenital heart disease; FGFR1; RANKL; SNP