title: Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.
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. 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.
authors.affiliation: Department of Pediatric Genetics, Marmara University Faculty of Medicine, İstanbul. nelcioglu1@yahoo.com.
authors.forename: Aida
authors.initials: A
authors.lastname: Semiç-Jusufagiç
authors.forename: Rıfat
authors.initials: R
authors.lastname: Bircan
authors.forename: Özhan
authors.initials: Ö
authors.lastname: Çelebiler
authors.forename: Melike
authors.initials: M
authors.lastname: Erdim
authors.forename: Nurten
authors.initials: N
authors.lastname: Akarsu
authors.forename: Nursel H
authors.initials: NH
authors.lastname: Elçioğlu
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001921:Brain / Q000002:abnormalities* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D010290:Parents; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
chemical_list: D004247:DNA; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)