Association between polymorphism of TGFA Taq I and cleft lip and/or palate: a meta-analysis

BMC Oral Health. 2014 Jul 11:14:88. doi: 10.1186/1472-6831-14-88.


Background: Cleft lip and palate (CL/P) is one of the most common malformations in humans. Transforming growth factor alpha (TGFA) is a well characterized mammalian growth factor which might contribute to the development of CL/P. This meta-analysis aimed to summarize the association between the TGFA Taq I polymorphisms and CL/P.

Methods: We retrieved the relevant articles from PubMed, EMBASE, ISI Web of Science and SCOPUS databases. Studies were selected using specific inclusion and exclusion criteria. The odds ratios (ORs) and their 95% confidence intervals (95% CIs) were calculated to assess the association between TGFA Taq I polymorphism and CL/P risk. Meta-analyses were performed on the total data set and separately for the major ethnic groups, disease type and source of control. All analyses were performed using the Stata software.

Results: Twenty articles were included in the present analysis. There is a significant association between the TGFA Taq I polymorphism and CL/P (C1C2 vs C1C1: OR = 1.67, 95% CI = 1.23-2.25, C2C2 + C1C2 vs C1C1C1: OR = 1.52, 95% CI = 1.15-2.01; C2 vs C1:OR = 1.41, 95% CI = 1.12-1.78). Stratified analyses suggested that the TGFA Taq I polymorphism was significantly associated with CL/P in Caucasians (C1C2 vs C1C1: OR = 1.95, 95% CI = 1.34-2.86; C2C2 + C1C2 vs C1C1: OR = 1.68, 95% CI = 1.18-2.38; C2 vs V1: OR = 1.52, 95% CI = 1.14 -2.02).

Conclusion: TGFA Taq I polymorphism may be associated with the risk of CL/P.

Publication types

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

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Gene Deletion
  • Genes, Dominant / genetics
  • Genes, Recessive / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Transforming Growth Factor alpha / genetics*
  • White People / genetics


  • TGFA protein, human
  • Transforming Growth Factor alpha