Human MTHFR-C677T gene transition increased risk of Alzheimer disease: a case-control study which performed by optimized PCR-CTPP method

Methylenetetrahydrofolate reductase (MTHFR) is a gene involved in folate metabolism which may contribute to the risk of Alzheimer disease (AD). In this paper, an association of MTHFR-C677T single nucleotide polymorphism (SNP) with the AD was evaluated by optimized PCR-confronting two-pair primers (PCR-CTPP) genotyping method. For this aim at first, PCR-CTPP method was optimized for detection of this SNP by additive agents and touchdown PCR. Then, an association of the mentioned SNP with the AD was assessed in a case-control study comprising 113 Alzheimer’s patients and 123 controls. Genotyping results showed that additive agents and touchdown PCR are two appropriate strategies for optimization of CTPP method. Our case-control study indicated a significant association between CT genotype (OR = 1.78, 95%CI = 1.04–3.03, p = 0.0357) and T allele (OR = 1.79, 95%CI = 1.07–2.10, p = 0.0273) with AD. Also, MTHFR-C677T polymorphism is associated with AD in a dominant model (OR = 1.79, 95%CI = 1.07–2.10, p = 0.0273). These results recommend that MTHFR-C677T polymorphism increases the risk of Alzheimer disease and can be a biomarker in the screening of this disease. And genotyping of aforementioned SNP could be performed by optimized PCR-CTPP a time-saving and reliable method.