AI Article Synopsis

  • The study investigated genetic variants and their impact on plasma uracil and dihydrouracil levels in a group of 100 healthy Indian adults.
  • It identified two prevalent genetic variants, c.1906-14763G>A and c.85T>C, with most participants showing a lower DHU-to-uracil ratio due to these variants.
  • Additionally, 40% of intermediate metabolizers had altered phenotypic measurements, indicating significant variations in metabolic responses among participants based on their genotypes.

Article Abstract

This study aimed to identify  variants and the related but previously unexplored phenotype (plasma uracil, dihydrouracil [DHU], and the DHU-to-uracil ratio) in a healthy adult Indian population. Healthy adult volunteers (n = 100) had their uracil and DHU levels measured and were genotyped for selected variants. Among the nine variants studied, c.1906-14763G>A and c.85T>C were the most prevalent. Participants with any of the variants except for c.85T>C and c.1627A>G had a significantly lower DHU-to-uracil ratio and those with c.1905+1G>A variant had significantly increased uracil concentration compared with wild-type. Participants with five variants were identified as having altered phenotypic measures, and 40% of the intermediate metabolizers had their phenotype in the terminal population percentiles.

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Source
http://dx.doi.org/10.2217/pme-2022-0042DOI Listing

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