Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0224089
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dc.titleArchitecture of population-differentiated polymorphisms in the human genome
dc.contributor.authorBachtiar, M.
dc.contributor.authorJin, Y.
dc.contributor.authorWang, J.
dc.contributor.authorTan, T.W.
dc.contributor.authorChong, S.S.
dc.contributor.authorBan, K.H.K.
dc.contributor.authorLee, C.G.L.
dc.date.accessioned2021-12-16T07:46:58Z
dc.date.available2021-12-16T07:46:58Z
dc.date.issued2019
dc.identifier.citationBachtiar, M., Jin, Y., Wang, J., Tan, T.W., Chong, S.S., Ban, K.H.K., Lee, C.G.L. (2019). Architecture of population-differentiated polymorphisms in the human genome. PLoS ONE 14 (10) : e0224089. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0224089
dc.identifier.issn19326203
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/210733
dc.description.abstractPopulation variation in disease and other phenotype are partly attributed to single nucleotide polymorphisms (SNPs) in the human genome. Due to selection pressure, two individuals from the same ancestral population have more genetic similarity compared to individuals from further geographic regions. Here, we elucidated the genomic population differentiation pattern, by interrogating >22,000,000 SNPs. Majority of population-differentiated (pd) SNPs (~95%), including the potentially functional (pf) (~84%) subset reside in non-genic regions, compared to the proportion of all SNPs (58%) found in non-genic regions. This suggests that differences between populations are more likely due to differences in gene regulation rather than protein function. Actin Cytoskeleton, Axonal Guidance and Protein Kinase A signaling pathways are enriched with genes carrying at least three pdSNPs (enriched pdGenes), while Antigen Presentation, Hepatic Fibrosis and Huntington Disease Signalling pathways are over-represented by enriched pf-pdGenes. An inverse correlation between chromosome size and the proportion of pd-/pf-pdSNPs was observed. Smaller chromosomes have relatively more of such SNPs including genes carrying these SNPs. Genes associated with common diseases and enriched with these pd-/pfpdSNPs are localized to 11 different chromosomes, with immune-related disease pd/pf-pdGenes mainly residing in chromosome 6 while neurological disease pd/pf-pdGenes residing in smaller chromosomes including chromosome 21/22. The associated diseases were reported to show population differences in incidence, severity and/or etiology. In summary, this study highlights the nonsporadic nature of population differentiation footprint in the human genome, which can potentially lead to the identification of genomic regions that play roles in the manifestation of phenotypic differences, including in disease predisposition and drug response. © 2019 Bachtiar et al.
dc.publisherPublic Library of Science
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceScopus OA2019
dc.typeArticle
dc.contributor.departmentBIOCHEMISTRY
dc.contributor.departmentPAEDIATRICS
dc.contributor.departmentNUS GRADUATE SCHOOL
dc.description.doi10.1371/journal.pone.0224089
dc.description.sourcetitlePLoS ONE
dc.description.volume14
dc.description.issue10
dc.description.pagee0224089
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