Lakkakula Bhaskar, Murthy Jyotsna, Gurramkonda Venkatesh Babu
Department of Biomedical Sciences and.
J Matern Fetal Neonatal Med. 2015 Feb;28(3):329-32. doi: 10.3109/14767058.2014.916677. Epub 2014 May 22.
Folate metabolism involves absorption, transport, modifications and interconversions of folates. The reduced folate carrier does not participate directly in folate metabolism but plays a major role in intracellular transport of metabolically active 5-methyltetrahydrofolate and maintains the intracellular concentrations of folate. The purpose of this study was to identify the prevalence of reduced folate carrier 1 (RFC1) A80G polymorphism and to further delineate its association with non-syndromic cleft lip and palate (NSCLP) in a south Indian population.
In the present case-control study, we studied RFC1 gene A80G polymorphism to evaluate its impact on NSCLP risk in south Indian population. Blood samples of 142 cases with NSCLP and 141 controls were collected and genotyped using PCR-RFLP.
The genotype distribution in the control group followed Hardy-Weinberg equilibrium (p = 0.633). The G allele frequency of cases was 64.8% (184/284) and was significantly lower than that found in the control group 56.4% (160/282). The genotype distributions between NSCLP cases and controls was not significantly different (p = 0.131). The allelic model significantly increased the risk of NSCLP (G versus A; OR = 1.40; 95% CI: 1.00-1.97; p = 0.050). In subgroup analysis, the A80G variant showed significant association for the CLP group in dominant and allelic models.
Altogether, our findings support the hypothesis that RFC1 A80G variant may contribute to NSCLP susceptibility in a south Indian population.
叶酸代谢涉及叶酸的吸收、转运、修饰和相互转化。还原型叶酸载体不直接参与叶酸代谢，但在代谢活性5-甲基四氢叶酸的细胞内转运中起主要作用，并维持细胞内叶酸浓度。本研究的目的是确定还原型叶酸载体1（RFC1）A80G多态性的患病率，并进一步阐明其与印度南部人群非综合征性唇腭裂（NSCLP）的关联。
在本病例对照研究中，我们研究了RFC1基因A80G多态性，以评估其对印度南部人群NSCLP风险的影响。收集了142例NSCLP患者和141例对照的血样，并使用PCR-RFLP进行基因分型。
对照组的基因型分布符合Hardy-Weinberg平衡（p = 0.633）。病例组的G等位基因频率为64.8%（184/284），显著低于对照组的56.4%（160/282）。NSCLP病例组和对照组之间的基因型分布无显著差异（p = 0.131）。等位基因模型显著增加了NSCLP的风险（G对A；OR = 1.40；95% CI：1.00 - 1.97；p = 0.050）。在亚组分析中，A80G变异在显性和等位基因模型中与CLP组显著相关。
总之，我们的研究结果支持以下假设，即RFC1 A80G变异可能导致印度南部人群易患NSCLP。
