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.
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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
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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.
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Kumar, M., Goudihalli, S., Mukherjee, K. et al. Methylenetetrahydrofolate reductase C677T variant and hyperhomocysteinemia in subarachnoid hemorrhage patients from India. Metab Brain Dis 33, 1617–1624 (2018). https://doi.org/10.1007/s11011-018-0268-5
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DOI: https://doi.org/10.1007/s11011-018-0268-5