• Pharmacogenomics, ancestry and clinical decision making for global populations.

Pharmacogenomics, ancestry and clinical decision making for global populations.

The pharmacogenomics journal (2013-07-10)
E Ramos, A Doumatey, A G Elkahloun, D Shriner, H Huang, G Chen, J Zhou, H McLeod, A Adeyemo, C N Rotimi

Pharmacogenomically relevant markers of drug response and adverse drug reactions are known to vary in frequency across populations. We examined minor allele frequencies (MAFs), genetic diversity (FST) and population structure of 1156 genetic variants (including 42 clinically actionable variants) in 212 genes involved in drug absorption, distribution, metabolism and excretion (ADME) in 19 populations (n=1478). There was wide population differentiation in these ADME variants, reflected in the range of mean MAF (ΔMAF) and FST. The largest mean ΔMAF was observed in African ancestry populations (0.10) and the smallest mean ΔMAF in East Asian ancestry populations (0.04). MAFs ranged widely, for example, from 0.93 for single-nucleotide polymorphism (SNP) rs9923231, which influences warfarin dosing to 0.01 for SNP rs3918290 associated with capecitabine metabolism. ADME genetic variants show marked variation between and within continental groupings of populations. Enlarging the scope of pharmacogenomics research to include multiple global populations can improve the evidence base for clinical translation to benefit all peoples.

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GenomiPhi HY Kit, Cytiva 25-6600-22, sufficient for 25 reactions
Genomiphi Hy Kit, Cytiva 25-6600-20, sufficient for 100 reactions
Genomiphi Hy Kit, Cytiva 25-6600-25, sufficient for 1000 reactions