Association Between the Transforming Growth Factor Beta 1 Gene Polymorphisms and Turkish Patients with Nonsyndromic Cleft Lip With/Without Cleft Palate

Genet Test Mol Biomarkers. 2016 May;20(5):265-8. doi: 10.1089/gtmb.2015.0301. Epub 2016 Mar 8.

Abstract

Objective: To examine transforming growth factor beta 1 (TGFβ1) gene polymorphisms in Turkish patients with nonsyndromic cleft lip with/without cleft palate (nsCL/P).

Methods: A total of 205 Turkish subjects were included; 80 nsCL/P patients and 125 unrelated control individuals. Analysis of gene polymorphisms was carried out by polymerase chain reaction and DNA sequencing.

Results: We found the substitution of a proline by a leucine at codon 10 (Pro10Leu) and the substitution of an arginine by a proline at codon 25 (Arg25Pro) in exon 1 of the TGFβ1 gene in nsCL/P patients.

Conclusion: This is the first report investigating prevalence of TGFβ1 polymorphisms in Turkish patients with nsCL/P.

MeSH terms

  • Amino Acid Substitution
  • Arginine / genetics
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cleft Lip / complications
  • Cleft Lip / genetics*
  • Cleft Palate / complications
  • Cleft Palate / genetics*
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Infant, Newborn
  • Leucine / genetics
  • Polymorphism, Single Nucleotide*
  • Proline / genetics
  • Transforming Growth Factor beta1 / genetics*
  • Turkey

Substances

  • TGFB1 protein, human
  • Transforming Growth Factor beta1
  • Arginine
  • Proline
  • Leucine