The Turkish Journal of Pediatrics 2012 , Vol 54 , Num 6
Association between C677T and A1298C MTHFR Gene Polymorphism and Nonsyndromic Orofacial Clefts in the Turkish Population: A Case-Parent Study
Departments of 1Pediatric Genetics, 2Medical Biology, and 3Plastic and Reconstructive Surgery, Marmara University Faculty of Medicine, İstanbul, and 4Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. E-mail: 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.

The mothers of the study group had a higher frequency of 677TT genotype, with a three-fold increased risk of having nsCL/P offspring (odds ratio [OR]: 3.14, p=0.03). The combined 677CT/1298AC genotype was also common among these mothers (28%), but it did not reach statistical significance (OR: 2.27, p=0.07). TDT analysis for (C677T) T allele transmission did not reveal a significant association. In conclusion, mothers carrying 677TT genotype or with 677CT/1298AC combined genotype have increased risk of having nsCL/P offspring; therefore, higher periconceptional folic acid supplementation should be advised for decreasing the recurrence risk. Keywords : nonsyndromic cleft lip palate, MTHFR polymorphisms, transmission disequilibrium test.

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