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Metabolic Brain Disease

, Volume 33, Issue 5, pp 1617–1624 | Cite as

Methylenetetrahydrofolate reductase C677T variant and hyperhomocysteinemia in subarachnoid hemorrhage patients from India

  • Mohit Kumar
  • Sachin Goudihalli
  • Kanchan Mukherjee
  • Sivashanmugam Dhandapani
  • Rajat Sandhir
Original Article

Abstract

Methylenetetrahydrofolate reductase (MTHFR) polymorphism (C677T, A1298C) has been implicated in increased plasma homocysteine (Hcy) levels. The present study was designed to investigate the association between MTHFR polymorphism and increased Hcy levels in subarachnoid haemorrhage (SAH) patients. A total of 150 subjects from North India were included in the study, comprising of 100 SAH patients and 50 healthy controls. Plasma Hcy levels was determined and MTHFR polymorphism (C677T, A1298C) was screened by High resolution melting (HRM) analysis. Plasma Hcy levels were found to be significantly higher (p < 0.001) in SAH patients than in healthy controls. No significant difference in the genotype and allele frequency of MTHFR A1298C was observed. However, frequency of MTHFR C677T genotype, CT (53% vs. 20%; p < 0.001) and TT (15% vs. 2%; p < 0.05) was significantly higher in SAH group as compared to healthy controls. The frequency of T allele (41.5% vs. 12%; p < 0.001) was also found to be higher in SAH patients in comparison to healthy controls. Furthermore, Hcy levels were higher in SAH patients with TT genotype than in patients having CT genotype, whereas CC genotype had lower Hcy levels. The study suggests that higher frequency of MTHFR C677T allele may contribute to etiopathology of SAH through increase in Hcy levels.

Keywords

Homocysteine Methylenetetrahydrofolate reductase MTHFR A1298C MTHFR C677T Subarachnoid haemorrhage Single nucleotide polymorphism 

Abbreviations

CAD

Coronary artery diseases

HRM

High resolution melting

Hcy

Homocysteine

HHcy

Hyperhomocysteinemia

MTHFR

Methylenetetrahydrofolate reductase

SNP

Single nucleotide polymorphism

SAH

Subarachnoid haemorrhage

SBD-F

7-benzo-2-oxa-1,3-diazole-4-sulfonic acid

TCEP

Tris-(2-carboxyl-ethyl)-phosphine

Notes

Acknowledgements

The financial assistance provided by Department of Bio-Technology (DBT), Govt. of India, New Delhi [grant number BT/361/NE/TBP/2012] is acknowledged. The fellowship to MK from the University Grants Commission (UGC), New Delhi [F.17-7(J)/2004(SA-1)] is also acknowledged. The authors also acknowledge UGC-Special Assistance Programme (UGC-SAP) Departmental Research Support-II (DRS-II). The financial assistance provided by the Department of Science and Technology (DST), New Delhi under Promotion of University Research and Scientific Excellence (PURSE) grant is also acknowledged. The help of Prof. Suresh K. Sharma from the Department of Statistics, Panjab University in data analysis is gratefully acknowledged.

Compliance with ethical standards

Ethical approval

All experiments were accordance with the ethical standards and were approved by the Institutional Ethics Committee of PGIMER (NK/872/M.Ch./542).

Informed consent

Informed consent was obtained from all participants included in the study.

Conflict of interest

The authors state no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Mohit Kumar
    • 1
  • Sachin Goudihalli
    • 2
  • Kanchan Mukherjee
    • 2
  • Sivashanmugam Dhandapani
    • 2
  • Rajat Sandhir
    • 1
  1. 1.Department of Biochemistry, Basic Medical Sciences Block-IIPanjab UniversityChandigarhIndia
  2. 2.Department of NeurosurgeryPost Graduate Institute of Medical Education and ResearchChandigarhIndia

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