Correlation between NFATC1 gene polymorphisms and congenital heart disease in children

C.-L. Li, L. Niu, M.-Y. Fu, J. Tian, Q.-W. Wang, X.-J. An

Department of Cardiology, Xuzhou Children’s Hospital, Xuzhou, Jiangsu, China. anxinjian001@163.com

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• Cardiology

OBJECTIVE: To analyze the links between NFATC1 gene polymorphism and congenital heart disease in children.

PATIENTS AND METHODS: In the present study, we selected 85 children patients with congenital heart disease who were hospitalized from February 2013 to February 2015 as research subjects (observation group), and 92 healthy subjects as control group. Restriction fragment length polymorphism (RFLP) was used for analysis of NFATC1 gene in samples from each group.

RESULTS: The distribution of NFATC1 genotype and allele between the observation group (children with congenital heart disease) and the control group showed no significant difference (p >0.05), but AA, GG genotypes, and allele frequency between pathological samples of children with congenital heart disease and the control group displayed significant difference (p <0.05) (X2 = 16.04, p <0.05; X2 = 16.29, p <0.05). Further analyses showed that AA, GG, AG genotype and allele frequency among children with congenital heart disease in observation group also showed a difference, i.e., homozygote (AA, GG) ratio in children with severe congenital heart disease is relatively high.

CONCLUSIONS: There is a correlation between NFATC1 genes and the incidence of congenital heart disease in children, and a correlation between different genotypes and allele frequency and the incidence of the disease.

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