Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians
2011

Study of SNPs in Folate Metabolism in Healthy Indians

Sample size: 144 publication Evidence: moderate

Author Information

Author(s): Ghodke Yogita, Chopra Arvind, Shintre Pooja, Puranik Amrutesh, Joshi Kalpana, Patwardhan Bhushan

Primary Institution: Interdisciplinary School of Health Sciences (ISHS), University of Pune, Pune, India

Hypothesis

The study aims to determine the allelic frequencies of SNPs in the folate biosynthetic pathway in an Indian ethnic population.

Conclusion

The study found significant differences in the distribution of folate metabolism SNPs among healthy Indians compared to other populations.

Supporting Evidence

  • Allele frequencies for MTHFR 677T and 1298C were found to be 10% and 30%, respectively.
  • The study validated previous findings of differences in SNP frequencies due to race and ethnicity.
  • The results indicate that the distribution of SNPs in folate metabolism varies significantly among different populations.

Takeaway

This study looked at how common certain genetic variations are in healthy Indian people, which can help understand how these variations affect health and medicine.

Methodology

DNA was extracted from blood samples and genotyping was performed using PCR-RFLP and Real-time Taqman allelic discrimination for 12 polymorphisms in 9 genes.

Limitations

The study only analyzed 12 polymorphisms and did not include all relevant genes in folate metabolism.

Participant Demographics

70 males and 74 females with a mean age of 23.22 years.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

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