Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
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Year : 2011  |  Volume : 133  |  Issue : 3  |  Page : 274-279

Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians

1 Interdisciplinary School of Health Sciences (ISHS), University of Pune, Pune, India
2 Centre for Rheumatic Diseases (CRD), Sinhgad College of Engineering, Pune, India
3 Department of biotechnology, Sinhgad College of Engineering, Pune, India

Correspondence Address:
Arvind Chopra
Director, Centre for Rheumatic Diseases, 11, Hermes Elegance, 1988 Convent Street Camp, Pune 411 001
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Source of Support: None, Conflict of Interest: None

PMID: 21441680

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Background & objectives : Many pharmacologically-relevant polymorphisms show variability among different populations. Though limited, data from Caucasian subjects have reported several single nucleotide polymorphism (SNPs) in folate biosynthetic pathway. These SNPs may be subjected to racial and ethnic differences. We carried out a study to determine the allelic frequencies of these SNPs in an Indian ethnic population. Methods: Whole blood samples were withdrawn from 144 unrelated healthy subjects from west India. DNA was extracted and genotyping was performed using PCR-RFLP and Real-time Taqman allelic discrimination for 12 polymorphisms in 9 genes of folate-methotrexate (MTX) metabolism. Results: Allele frequencies were obtained for MTHFR 677T (10%) and 1298 C (30%), TS 3UTR 0bp (46%), MDR1 3435T and 1236T (62%), RFC1 80A (57%), GGH 401T (61%), MS 2756G (34%), ATIC 347G (52%) and SHMT1 1420T (80%) in healthy subjects (frequency of underlined SNPs were different from published study data of European and African populations). Interpretation & conclusions : The current study describes the distribution of folate biosynthetic pathway SNPs in healthy Indians and validates the previous finding of differences due to race and ethnicity. Our results pave way to study the pharmacogenomics of MTX in the Indian population.

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