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, cilt.54, sa.6, ss.617-625, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 54 Sayı: 6
  • Basım Tarihi: 2012
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.617-625
  • Anahtar Kelimeler: nonsyndromic cleft lip palate, MTHFR polymorphisms, transmission disequilibrium test, METHYLENETETRAHYDROFOLATE REDUCTASE GENE, MATERNAL FOLATE INTAKE, RISK-FACTOR, LIP, HOMOCYSTEINE, GENOTYPE, PALATE, MUTATION, VARIANT
  • Marmara Üniversitesi Adresli: Evet

Özet

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.