MTHFR c.677C>T is a risk factor for non‐syndromic cleft lip with or without cleft palate in Chile. (1st August 2016)

• Record Type: Journal Article
• Authors: Ramírez‐Chau, C; Blanco, R; Colombo, A; Pardo, R; Suazo, J
• Is Part Of: Oral diseases. Volume 22:Number 7(2016)
• Page Start: 703
• Page End: 708
• Publication Date: 2016-08-01
• Subjects: Non‐syndromic cleft lip with or without cleft palate -- MTHFR -- case–control -- case–parent trios; Mouth -- Diseases -- Research -- Periodicals; 617.522
• DOI: 10.1111/odi.12533
• Languages: English
• ISSNs: 1354-523X

Abstract

Abstract : Objective: The functional variant within the 5, 10‐methylenetetrahydrofolate reductase ( MTHFR ) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non‐syndromic cleft lip with or without cleft palate (NSCL/P). We assessed this association in a Chilean population using a combined analysis of case–control and case–parent trio samples. Subjects and methods: Samples of 165 cases and 291 controls and 121 case–parent trios (sharing the cases) were genotyped. Odds ratio (OR) was estimated for case–control (allele and genotype frequency differences), and this result was confirmed by allele transmission distortion in trios. Due to that these samples are not independent, a combined OR was also computed. Maternal genotype effect was additionally evaluated based on a log‐linear method. Results: Borderline but not significant OR (1.28; CI 0.97–1.69) was observed for risk allele (T) in the case–control sample. However, triad sample showed a significant association (OR 1.56: CI 1.09–2.25) which was confirmed by the combined OR (1.37; CI 1.11–1.71). Maternal genotype has been also associated with the phenotype ( P = 0.002). Conclusions: In contrast to previous reports considering Chilean subjects, our results demonstrated that the offspring and maternal genotypes for MTHFR c.677C>T variant are strongly associated with NSCL/P in this Chilean population.