Association between congenital heart disease and NKX2.5 gene polymorphisms: systematic review and meta-analysis

Biomark Med. 2020 Dec;14(18):1747-1757. doi: 10.2217/bmm-2020-0190.

Abstract

Aim: To analyze the association of NKX2.5 gene with congenital heart disease (CHD), and to determine if the variants rs703752, rs3729753 and rs2277923 increase the risk for developing CHD. Materials & methods: PubMed, EBSCO and Web of Science databases were screened to identify eligible studies. Through a comprehensive meta-analysis software, the association between NKX2.5 gene variants and susceptibility of CHD was calculated by pooled odd ratio (ORs) and 95% CI. Results: We observed that the allelic model of rs703752 and rs2277923 increased the risk in the overall population: OR = 1.24; 95% CI: 1.00-1.55; Z p-value = 0.049; OR = 1.18; 95% CI: 0.01-1.37; Z p-value = 0.036; respectively. Conclusion: Our results suggested that the rs703752 and rs2277923 polymorphisms of the NKX2.5 gene are associated with CHD.

Keywords: NKX2.5 gene; congenital heart disease; meta-analysis; systematic review.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Systematic Review

MeSH terms

  • Alleles
  • Databases, Genetic
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / metabolism
  • Homeobox Protein Nkx-2.5 / genetics*
  • Homeobox Protein Nkx-2.5 / metabolism*
  • Humans
  • Polymorphism, Single Nucleotide

Substances

  • Homeobox Protein Nkx-2.5
  • NKX2-5 protein, human