Ontology type: schema:ScholarlyArticle Open Access: True
2021-10-15
AUTHORSYitian Zhou, Volker M. Lauschke
ABSTRACTBoth safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to optimize population-stratified care. Here, we provide an extensive updated analysis of population pharmacogenomics in ten pharmacokinetic genes (CYP2D6, CYP2C19, DPYD, TPMT, NUDT15 and SLC22A1), drug targets (CFTR) and genes involved in drug hypersensitivity (HLA-A, HLA-B) or drug-induced acute hemolytic anemia (G6PD). Combined, polymorphisms in the analyzed genes affect the pharmacology, efficacy or safety of 141 different drugs and therapeutic regimens. The data reveal pronounced differences in the genetic landscape, complexity and variant frequencies between ethnogeographic groups. Reduced function alleles of CYP2D6, SLC22A1 and CFTR were most prevalent in individuals of European descent, whereas DPYD and TPMT deficiencies were most common in Sub-Saharan Africa. Oceanian populations showed the highest frequencies of CYP2C19 loss-of-function alleles while their inferred CYP2D6 activity was among the highest worldwide. Frequencies of HLA-B*15:02 and HLA-B*58:01 were highest across Asia, which has important implications for the risk of severe cutaneous adverse reactions upon treatment with carbamazepine and allopurinol. G6PD deficiencies were most frequent in Africa, the Middle East and Southeast Asia with pronounced differences in variant composition. These variability data provide an important resource to inform cost-effectiveness modeling and guide population-specific genotyping strategies with the goal of optimizing the implementation of precision public health. More... »
PAGES1113-1136
http://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x
DOIhttp://dx.doi.org/10.1007/s00439-021-02385-x
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/34652573
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"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s00439-021-02385-x"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"34652573"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s00439-021-02385-x",
"https://app.dimensions.ai/details/publication/pub.1141916071"
],
"sdDataset": "articles",
"sdDatePublished": "2022-08-04T17:11",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220804/entities/gbq_results/article/article_915.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/s00439-021-02385-x"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'
This table displays all metadata directly associated to this object as RDF triples.
417 TRIPLES
21 PREDICATES
180 URIs
119 LITERALS
14 BLANK NODES