Murthy Jyotsna, Gurramkonda Venkatesh-Babu, Lakkakula Bhaskar V K S
Department of Biomedical Sciences, Sri Ramachandra University, No.1 Ramachandra Nagar, Porur, Chennai - 600 116,
Med Oral Patol Oral Cir Bucal. 2014 Nov 1;19(6):e616-21. doi: 10.4317/medoral.19796.
Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in the folate pathway might be expected to have an impact on risk of oral clefts. Given the key role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) in folate metabolism, it would be of significant interest to assess its role in NSCLP etiology.
The present study aims at examining the association between MTHFD1 1958G>A polymorphism and NSCLP risk by conducting a case-control study in south Indian population. Our sample comprised of 142 cases with nonsyndromic clefts and 141 controls without clefts or family history of clefting. The MTHFD1 1958G>A polymorphism was genotyped using PCR-RFLP.
An increased risk was found for the heterozygous 1958GA (OR=2.44; P=0.020) and homozygous 1958AA (OR=2.45; P=0.012) genotypes in the children. When the dominant model (AG+AA vs GG) was applied the risk remained the same as co-dominant model, but the level of significance increased (OR=2.44; P=0.002).
The results indicated the MTHFD1 1958G>A polymorphism to be one of the important genetic determinants of NSCLP risk in South Indian subjects.
非综合征性唇腭裂（NSCLP）在遗传上与综合征性腭裂不同，约占口腔腭裂病例的70%。叶酸，即维生素B9，是我们饮食中的一种必需营养素。参与叶酸代谢途径的基因中的等位基因变异可能会影响口腔腭裂的风险。鉴于亚甲基四氢叶酸脱氢酶1（MTHFD1）在叶酸代谢中的关键作用，评估其在NSCLP病因中的作用具有重要意义。
本研究旨在通过在南印度人群中进行病例对照研究，探讨MTHFD1 1958G>A多态性与NSCLP风险之间的关联。我们的样本包括142例非综合征性腭裂患者和141例无腭裂或腭裂家族史的对照。采用PCR-RFLP对MTHFD1 1958G>A多态性进行基因分型。
在儿童中，杂合子1958GA（OR=2.44；P=0.020）和纯合子1958AA（OR=2.45；P=0.012）基因型的风险增加。当应用显性模型（AG+AA与GG）时，风险与共显性模型相同，但显著性水平增加（OR=2.44；P=0.002）。
结果表明MTHFD1 1958G>A多态性是南印度人群NSCLP风险的重要遗传决定因素之一。
