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Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population

Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population Fluoropyrimidines are chemotherapy drugs that may cause severe adverse events, and their metabolism occurs by dihydropyrimidine deydrogenase (DPD), coded by DPYD. Variants in the DPYD were associated to a greater risk of toxicity. Our aim was to determine the frequency of the most relevant DPYD alleles according to CPIC guidelines (DPYD*2A‐rs3918290, DPYD*13‐rs55886062, rs67376798, and HapB3‐rs75017182) in a sample of 800 healthy Southern Brazilians. Frequencies for rs3918290, rs75017182, and rs67376798 were 0.25%, 1.06%, and 0.38%, respectively. No rs55886062 allele was detected. In total, 3.4% of individuals were classified as intermediate metabolizers. Frequencies for rs3918290, rs55886062, and rs67376798 were similar to those found in non‐Finnish Europeans; however, rs75017182 was less frequent when compared to non‐Finnish Europeans, but more frequent than in Africans and East Asians. rs3918290 and rs67376798 also presented higher frequency when compared to Africans. The Latino population was the only one that did not differ from our sample in any variant analyzed. The frequencies for all the other populations (non‐Finnish European, African, South Asian, and East Asian) presented differences from our sample in at least one variant. rs115232898 was not analyzed in the present study. Cost‐effective studies should be performed to evaluate the implementation of these tests in the clinical practice in the Southern Brazil. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population

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References (25)

Publisher
Wiley
Copyright
© 2022 John Wiley & Sons Ltd/University College London
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/ahg.12453
Publisher site
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Abstract

Fluoropyrimidines are chemotherapy drugs that may cause severe adverse events, and their metabolism occurs by dihydropyrimidine deydrogenase (DPD), coded by DPYD. Variants in the DPYD were associated to a greater risk of toxicity. Our aim was to determine the frequency of the most relevant DPYD alleles according to CPIC guidelines (DPYD*2A‐rs3918290, DPYD*13‐rs55886062, rs67376798, and HapB3‐rs75017182) in a sample of 800 healthy Southern Brazilians. Frequencies for rs3918290, rs75017182, and rs67376798 were 0.25%, 1.06%, and 0.38%, respectively. No rs55886062 allele was detected. In total, 3.4% of individuals were classified as intermediate metabolizers. Frequencies for rs3918290, rs55886062, and rs67376798 were similar to those found in non‐Finnish Europeans; however, rs75017182 was less frequent when compared to non‐Finnish Europeans, but more frequent than in Africans and East Asians. rs3918290 and rs67376798 also presented higher frequency when compared to Africans. The Latino population was the only one that did not differ from our sample in any variant analyzed. The frequencies for all the other populations (non‐Finnish European, African, South Asian, and East Asian) presented differences from our sample in at least one variant. rs115232898 was not analyzed in the present study. Cost‐effective studies should be performed to evaluate the implementation of these tests in the clinical practice in the Southern Brazil.

Journal

Annals of Human Genetics – Wiley

Published: Mar 1, 2022

Keywords: DPYD; fluoropyrimidines; pharmacogenetics; pharmacogenomics

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