Abstract
The aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells. The polymorphisms in TCN2 (rs1801198) and MTRR (rs1801394) genes were genotyped by carrying out real-time PCR and Taqman assay. Chi-square test was used to determine the association between genotype and allele frequencies with NSCL/P and NSCL/P subgroups (cleft lip only, cleft lip and palate, and cleft palate only). Eight hundred and sixty seven unrelated individuals (401 cases with NSCL/P and 466 individuals without cleft) were evaluated. Genotype distributions of TCN2 and MTRR polymorphisms were in Hardy-Weinberg equilibrium. The TCN2 polymorphic genotype GG was identified in 16.7% of the NSCL/P group and in 14.1% of the non-cleft group (p>0.05). Similarly, the frequency of MTRR genotype (GG) was similar in NSCL/P group (15.5%) and control group (17.8%) (p>0.05). Multivariate analysis showed an association between MTRR and the subgroup that the mother smoked during pregnancy (p=0.039). Our findings did not demonstrate an association between TCN2 polymorphisms and NSCL/P, however suggests an association between MTRR and NSCL/P etiology.
Highlights
Nonsyndromic cleft lip and/or palate (NSCL/P) is one of the most common congenital anomalies in humans and has an impact in the oral health
Note: aRef. seq.:TCN2:c.M60396.1; MTRR:c.NM_002454.1.b In bold letters are minor allele count c Obtained from ENTREZ SNP database
Evidences regarding the effects on NSCL/P prevention [20]
Summary
Nonsyndromic cleft lip and/or palate (NSCL/P) is one of the most common congenital anomalies in humans and has an impact in the oral health. NSCL/P is a multifactorial condition and many factors, such as ethnical background, geographic origin, socioeconomic status, genetics and environmental factors are involved [1]. Just after cellular uptake, cobalamin participates as a cofactor in so many biochemical pathways, including that responsible by homocysteine (Hcy) metabolism, involving methionine, a recognized methyl donor [9]. This reaction is regulated by two enzymes, methionine synthase (MTR) and methionine synthase reductase (MTRR), encoded by the MTRR gene [10]
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