Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate

Medicine (Baltimore). 2017 Sep;96(37):e7973. doi: 10.1097/MD.0000000000007973.

Abstract

Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common orofacial congenital anomaly. The objective of the present study was to analyze the association of single nucleotide polymorphisms (SNPs) in the NAT2 and EGF61genes with NSCL/P in a Chinese population.

Methods: The frequencies of NAT2 (rs1799929)and EGF61 (rs4444903) gene variations were examined in a group of 285 NSCL/P patients and in 315 controls. Peripheral venous blood samples were collected for DNA extraction. Genotyping of the 2 SNPs was carried out using a mini sequencing (SNaPshot) method. Data were analyzed using the chi-square test.

Results: We found a significant association between the EGF61 (rs4444903) and NSCL/P (P = .01) genes.Conversely, NAT2 (rs1799929) was not significantly different between the cases and the control group.The genotype frequencies of rs4444903GA showed a significant difference compared with GG genotype as a reference (odds ratio = 0.59; 95% confidence interval: 0.42-0.84, P = .01).

Conclusion: Our study showed that the EGF61 rs4444903GA genotype had a decreased risk of NSCL/P. Our data provides further evidence regarding the role of EGF61 variations in the development of NSCL/P in families of the studied populations.

MeSH terms

  • Arylamine N-Acetyltransferase / genetics*
  • Asian People / genetics
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Epidermal Growth Factor / genetics*
  • Genotype
  • Humans
  • Nucleotides / genetics
  • Polymorphism, Single Nucleotide*

Substances

  • Nucleotides
  • Epidermal Growth Factor
  • Arylamine N-Acetyltransferase
  • NAT2 protein, human