Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study


Semic-Jusufagic A., Bircan R., Celebiler O., Erdim M., Akarsu N., Elcioglu N. H.

TURKISH JOURNAL OF PEDIATRICS, vol.54, no.6, pp.617-625, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 54 Issue: 6
  • Publication Date: 2012
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.617-625
  • Hacettepe University Affiliated: Yes

Abstract

Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited into the study. Genotype frequencies were compared to two groups of controls from the same population. A total of 46 case-parent trios were included in transmission disequilibrium test (TDT) analysis.