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Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease

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Abstract

C677T (rs1801133) and A1298C (rs1801131) MTHFR gene polymorphisms and/or nutritional deficiency of folate/vitamin B12 leading to hyperhomocysteinemia is an established risk factor for CAD. The objective of this study was to evaluate the clinical usefulness of association between MTHFR C677T (rs1801133) and A1298C (rs1801131) polymorphisms with serum homocysteine, folate and vitamin B12 in addition to conventional cardiovascular risk factors in patients with young CAD. Genomic DNA was isolated from the whole blood. Genotyping of MTHFR C677T (rs1801133) and MTHFR A1298C (rs1801131) polymorphisms in young CAD patients and healthy controls was performed by ARMS-PCR method. Serum homocysteine, vitamin B12 and folate were estimated by CMIA and lipid profile parameters were measured by automated chemistry analyzers. Serum homocysteine levels were significantly higher but serum folate and vitamin B12 levels were not significantly different among young CAD group as compared to control group. Statistically significant hyperhomocysteinemia was observed in carriers of T allele for MTHFR 677C/T (rs1801133) genotype in young CAD group but this association was not significant for MTHFR 1298A/C (rs1801131) polymorphism. The association between hyperhomocysteinemia and CAD in young group was not independent of conventional cardiovascular risk factors. Risk of hyperhomocysteinemia and young CAD could be monitored by MTHFR polymorphism detection followed by serum homocysteine, folate and vitamin B12 measurements. The findings could help to prevent or delay the occurrence of young CAD through appropriate measures.

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Acknowledgements

We would like to thank Dr. Anant A. Takalkar, MBBS, MD, Professor in Community Medicine and consultant Statistician, Dept. of Community Medicine, MIMSR Medical College, Latur (Maharashtra) for his valuable help in statistical analysis of this project.

Funding

This work was supported by Bharati Vidyapeeth (Deemed to be) University, Pune (Grant number: BVDU/Research Cell/2016–17/929).

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Authors and Affiliations

  1. Department of Biochemistry, Smt. Kashibai Navale Medical College & General Hospital, Pune, Maharashtra, 411041, India

    Rajni R. Shivkar

  2. Department of Biochemistry, Bharati Vidyapeeth (Deemed To Be University) Medical College, Pune, Maharashtra, 411043, India

    Gayatri C. Gawade & Meghana K. Padwal

  3. Department of Medicine, Bharati Vidyapeeth (Deemed To Be University) Medical College, Pune, Maharashtra, 411043, India

    Arundhati G. Diwan & Sumiran A. Mahajan

  4. Department of Biochemistry, RKDF Medical College, Hospital and Research Centre, Bhopal, Madhya Pradesh, 462026, India

    Charushila Y. Kadam

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  1. Rajni R. Shivkar
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All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

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Research involving human subjects complied with all relevant national regulations, institutional policies and has been approved by the institutional ethical committee of Bharati Vidyapeeth (Deemed to be) University Medical college, Pune [BVDUMC/IEC/9A dated 30/04/2018].

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Shivkar, R.R., Gawade, G.C., Padwal, M.K. et al. Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease. Ind J Clin Biochem 37, 224–231 (2022). https://doi.org/10.1007/s12291-021-00982-1

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