Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness

Autor: Abu Ashfaqur Sajib, Nusrat Jahan Urmi, Tamim Ahsan
Rok vydání: 2019
Předmět:
0301 basic medicine
Linkage disequilibrium
Heredity
Population genetics
Pathology and Laboratory Medicine
Vascular Medicine
Linkage Disequilibrium
Geographical Locations
0302 clinical medicine
Gene Frequency
Neoplasms
Medicine and Health Sciences
Cluster Analysis
Ethnicities
African American people
Phylogeny
Genetics
education.field_of_study
Multidisciplinary
Geography
Europe
Genetic Mapping
Pharmaceutical Preparations
Oncology
030220 oncology & carcinogenesis
Medicine
Research Article
Science
Population
Single-nucleotide polymorphism
Hemorrhage
Biology
Polymorphism
Single Nucleotide
03 medical and health sciences
Genetic Heterogeneity
Signs and Symptoms
Diagnostic Medicine
Genetic variation
Humans
Allele
education
Allele frequency
Alleles
African People
Evolutionary Biology
Population Biology
Genetic heterogeneity
Cancers and Neoplasms
Biology and Life Sciences
030104 developmental biology
Genetics
Population
Haplotypes
Genetic Loci
Multivariate Analysis
People and Places
Population Groupings
Population Genetics
Zdroj: PLoS ONE
PLoS ONE, Vol 15, Iss 1, p e0228000 (2020)
ISSN: 1932-6203
Popis: Interethnic variability in drug response arises from genetic differences associated with drug metabolism, action and transport. These genetic variations can affect drug efficacy as well as cause adverse drug reactions (ADRs). We retrieved drug-response related single nucleotide polymorphism (SNP) associated data from databases and analyzed to elucidate population specific distribution of 159 drug-response related SNPs in twenty six populations belonging to five super-populations (African, Admixed Americans, East Asian, European and South Asian). Significant interpopulation differences exist in the minor (variant) allele frequencies (MAFs), linkage disequilibrium (LD) and haplotype distributions among these populations. 65 of the drug-response related alleles, which are considered as minor (variant) in global population, are present as the major alleles (frequency ≥0.5) in at least one or more populations. Populations that belong to the same super-population have similar distribution pattern for majority of the variant alleles. These drug response related variant allele frequencies and their pairwise LD measure (r2) can clearly distinguish the populations in a way that correspond to the known evolutionary history of human and current geographic distributions, while D' cannot. The data presented here may aid in identifying drugs that are more appropriate and/or require pharmacogenetic testing in these populations. Our findings emphasize on the importance of distinct, ethnicity-specific clinical guidelines, especially for the African populations, to avoid ADRs and ensure effective drug treatment.
Databáze: OpenAIRE
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