MTHFR c.677C > T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile

作者：Ramirez Chau C; Blanco R; Colombo A; Pardo R; Suazo J^*

来源：Oral Diseases, 2016, 22(7): 703-708.

DOI：10.1111/odi.12533

• Non-syndromic cleft lip with or without cleft palate
• MTHFR
• case-control
• case-parent trios

ObjectiveThe 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 methodsSamples 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.
ResultsBorderline 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).
ConclusionsIn 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.

• 出版日期2016-10