Clinical and Pharmacogenomic Implications of Genetic Variation in a Southern Ethiopian Population
Identifieur interne : 002C52 ( Main/Exploration ); précédent : 002C51; suivant : 002C53Clinical and Pharmacogenomic Implications of Genetic Variation in a Southern Ethiopian Population
Auteurs : Fasil Tekola-Ayele [États-Unis] ; Adebowale Adeyemo [États-Unis] ; Abraham Aseffa [Éthiopie] ; Elena Hailu [Éthiopie] ; Chris Finan [Royaume-Uni] ; Gail Davey [Royaume-Uni] ; Charles N. Rotimi [États-Unis] ; Melanie J. Newport [Royaume-Uni]Source :
- The pharmacogenomics journal [ 1470-269X ] ; 2014.
Abstract
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 to 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
Url:
DOI: 10.1038/tpj.2014.39
PubMed: 25069476
PubMed Central: 4277706
Affiliations:
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Rotimi</name><affiliation wicri:level="1"><nlm:aff id="A1">Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD</wicri:regionArea><wicri:noRegion>MD</wicri:noRegion></affiliation></author><author><name sortKey="Newport, Melanie J" sort="Newport, Melanie J" uniqKey="Newport M" first="Melanie J." last="Newport">Melanie J. Newport</name><affiliation wicri:level="1"><nlm:aff id="A4">Brighton and Sussex Medical School, Falmer, Brighton, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Brighton and Sussex Medical School, Falmer, Brighton</wicri:regionArea><wicri:noRegion>Brighton</wicri:noRegion></affiliation></author></analytic><series><title level="j">The pharmacogenomics journal</title><idno type="ISSN">1470-269X</idno><idno type="eISSN">1473-1150</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">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 to 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 <italic>NAT2</italic>), thromboembolism (rs7294, rs9923231 and rs9934438 in <italic>VKORC1</italic>), and HIV/AIDS and solid tumors (rs2242046 in <italic>SLC28A1</italic>) had significantly higher frequencies in WETH compared to African ancestry HapMap populations. Our results illustrate that clinically relevant pharmacogenomic loci display allele frequency differences among African populations. 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Habtewold</name></author><author><name sortKey="Amogne, W" uniqKey="Amogne W">W Amogne</name></author><author><name sortKey="Suda, A" uniqKey="Suda A">A Suda</name></author><author><name sortKey="Riedel, Kd" uniqKey="Riedel K">KD Riedel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mekonnen, T" uniqKey="Mekonnen T">T Mekonnen</name></author><author><name sortKey="Abseno, M" uniqKey="Abseno M">M Abseno</name></author><author><name sortKey="Meressa, D" uniqKey="Meressa D">D Meressa</name></author><author><name sortKey="Fekde, B" uniqKey="Fekde B">B Fekde</name></author></analytic></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li><li>Éthiopie</li></country></list><tree><country name="États-Unis"><noRegion><name sortKey="Tekola Ayele, Fasil" sort="Tekola Ayele, Fasil" uniqKey="Tekola Ayele F" first="Fasil" last="Tekola-Ayele">Fasil Tekola-Ayele</name></noRegion><name sortKey="Adeyemo, Adebowale" sort="Adeyemo, Adebowale" uniqKey="Adeyemo A" first="Adebowale" last="Adeyemo">Adebowale Adeyemo</name><name sortKey="Rotimi, Charles N" sort="Rotimi, Charles N" uniqKey="Rotimi C" first="Charles N." last="Rotimi">Charles N. Rotimi</name></country><country name="Éthiopie"><noRegion><name sortKey="Aseffa, Abraham" sort="Aseffa, Abraham" uniqKey="Aseffa A" first="Abraham" last="Aseffa">Abraham Aseffa</name></noRegion><name sortKey="Hailu, Elena" sort="Hailu, Elena" uniqKey="Hailu E" first="Elena" last="Hailu">Elena Hailu</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Finan, Chris" sort="Finan, Chris" uniqKey="Finan C" first="Chris" last="Finan">Chris Finan</name></noRegion><name sortKey="Davey, Gail" sort="Davey, Gail" uniqKey="Davey G" first="Gail" last="Davey">Gail Davey</name><name sortKey="Newport, Melanie J" sort="Newport, Melanie J" uniqKey="Newport M" first="Melanie J." last="Newport">Melanie J. Newport</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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