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Clinical and pharmacogenomic implications of genetic variation in a Southern Ethiopian population

journal contribution
posted on 2023-06-08, 20:05 authored by F Tekola-Ayele, A Adeyemo, A Aseffa, E Hailu, C Finan, Gail DaveyGail Davey, C N Rotimi, Melanie NewportMelanie Newport
Africa is home to genetically diverse human populations. We compared the genetic structure of the Wolaita ethnic population from Southern Ethiopia (WETH, n=120) with HapMap populations using genome-wide variants. We investigated allele frequencies of 443 clinically and pharmacogenomically relevant genetic variants in WETH compared with HapMap populations. We found that WETH were genetically most similar to the Kenya Maasai and least similar to the Japanese in HapMap. Variant alleles associated with increased risk of adverse reactions to drugs used for treating tuberculosis (rs1799929 and rs1495741 in NAT2), thromboembolism (rs7294, rs9923231 and rs9934438 in VKORC1), and HIV/AIDS and solid tumors (rs2242046 in SLC28A1) had significantly higher frequencies in WETH compared with African ancestry HapMap populations. Our results illustrate that clinically relevant pharmacogenomic loci display allele frequency differences among African populations. We conclude that drug dosage guidelines for important global health diseases should be validated in genetically diverse African populations.

History

Publication status

  • Published

Journal

Pharmacogenomics Journal

ISSN

1470-269X

Publisher

Nature Publishing Group

Issue

1

Volume

15

Page range

101-108

Department affiliated with

  • Global Health and Infection Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2015-02-19

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