Methylenetetrahydrofolate Reductase Polymorphisms As Genetic Markers to Predict Homocysteinemia and Clinical Severity in Sickle Cell Disease

Abstract

Aim: The present study observed the relationship between the methylenetetrahydrofolate reductase genotypes and clinical outcome in children with sickle cell disorder. Methodology: A total of 249 children were recruited for the study and evaluated clinically for calculating severity score, homocysteine levels and C677T and A1298C genotyping. Results: The frequencies of variant genotypes were 28.1% CT/TT677 and 69.1% AC/CC1298. Plasma homocysteine was significantly elevated in variant groups (p < 0.001). Both the genotypes accorded significant association with homocysteinemia (p < 0.001). Vascular crisis (p = 0.04), frequency of hospitalization (p < 0.001) and severity score (p = 0.02) revealed association with C677T and not with A1298C. The CT/TT677 genotypes showed 3.39-times (p = 0.032) increase in a higher score for severity. Conclusion: C677T depicted significant association with clinical severity in study population.

Keywords:

• anemia
• BMI
• children
• hospitalization frequency
• hypercoagulable
• severity score
• single-nucleotide polymorphism
• variant forms
• vascular crisis
• wild forms

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Supplementary data

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Financial & competing interests disclosure

The study was funded by Chhattisgarh Council of Science and Technology, Raipur, Chhattisgarh, India. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

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Funding

The study was funded by Chhattisgarh Council of Science and Technology, Raipur, Chhattisgarh, India. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.