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

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Abstract

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.

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Authors and Affiliations

  1. Nour Danesh Institute of Higher Education, Meymeh, Isfahan, Iran

    Fatemeh Dehghan Colagari

  2. Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Mazandaran, 47416-95447, Iran

    Abasalt Hossienzadeh Colagar

  3. National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

    Mohammad Reza Zamani

Authors
  1. Fatemeh Dehghan Colagari
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  2. Abasalt Hossienzadeh Colagar
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  3. Mohammad Reza Zamani
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Correspondence to Abasalt Hossienzadeh Colagar.

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The authors declare that they have no conflict of interest.

Ethical statement

All procedures followed were by the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008. Informed consent was obtained from all patients for being included in the study.

Additional information

Capsule: The aim of this study was to investigate the association of MTHFR-C677T polymorphism with Alzheimer disease by optimized PCR-confronting two-pair primers genotyping method. Finding showed a significant association between MTHFR-C677T and Alzheimer disease. Also, optimized PCR-CTPP is an inexpensive, time-saving, and reliable method for the SNP genotyping.

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Colagari, F.D., Hossienzadeh Colagar, A. & Zamani, M. Human MTHFR-C677T gene transition increased risk of Alzheimer disease: a case-control study which performed by optimized PCR-CTPP method. Comp Clin Pathol 27, 879–885 (2018). https://doi.org/10.1007/s00580-018-2676-7

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  • DOI: https://doi.org/10.1007/s00580-018-2676-7

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