In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations

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dc.contributor.authorROPHINA, MERCYen_US
dc.contributor.authorKEK, TEH LAYen_US
dc.contributor.authorSIVASUBBU, SRIDHARen_US
dc.contributor.authorSCARIA, VINODen_US
dc.contributor.authorSALLEH, MOHD ZAKIen_US
dc.date.accessioned2024-11-30T12:02:42Z
dc.date.available2024-11-30T12:02:42Z
dc.date.issued2023-08
dc.description.abstractDifferences in the distribution of RBC antigens defining the blood group types among different populations have been well established. Fewer studies exist that have explored the blood group profiles of indigenous populations worldwide. With the availability of population-scale genomic datasets, we have explored the blood group profiles of the Orang Aslis, who are the indigenous population in Peninsular Malaysia and provide a systematic comparison of the same with major global population datasets. Variant call files from whole genome sequence data (hg19) of 114 Orang Asli were retrieved from The Orang Asli Genome Project. Systematic variant annotations were performed using ANNOVAR and only those variants mapping back to genes associated with 43 blood group systems and transcription factors KLF1 and GATA1 were filtered. Blood group-associated allele and phenotype frequencies were determined and were duly compared with other datasets including Singapore Sequencing Malay Project, aboriginal western desert Australians and global population datasets including The 1000 Genomes Project and gnomAD. This study reports four alleles (rs12075, rs7683365, rs586178 and rs2298720) of DUFFY, MNS, RH and KIDD blood group systems which were significantly distinct between indigenous Orang Asli and cosmopolitan Malaysians. Eighteen alleles that belong to 14 blood group systems were found statistically distinct in comparison to global population datasets. Although not much significant differences were observed in phenotypes of most blood group systems, major insights were observed when comparing Orang Asli with aboriginal Australians and cosmopolitan Malaysians. This study serves as the first of its kind to utilize genomic data to interpret blood group antigen profiles of the Orang Asli population. In addition, a systematic comparison of blood group profiles with related populations was also analysed and documented.en_US
dc.identifier.affiliationsCSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110 025, India; Academy of Scientific and Innovative Research (AcSIR), CSIR-HRDC Campus, Sector 19, Kamla Nehru Nagar, Ghaziabad 201 002, Indiaen_US
dc.identifier.affiliationsIntegrative Pharmacogenomics Institute, Universiti Teknologi MARA Selangor Branch, Puncak Alam Campus, Shah Alam, Malaysia; Faculty of Pharmacy, Universiti Teknologi MARA Selangor Branch, Puncak Alam Campus, Shah Alam, Malaysiaen_US
dc.identifier.affiliationsCSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110 025, India; Academy of Scientific and Innovative Research (AcSIR), CSIR-HRDC Campus, Sector 19, Kamla Nehru Nagar, Ghaziabad 201 002, Indiaen_US
dc.identifier.affiliationsCSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110 025, India; Academy of Scientific and Innovative Research (AcSIR), CSIR-HRDC Campus, Sector 19, Kamla Nehru Nagar, Ghaziabad 201 002, India; Present address: Vishwanath Cancer Care Foundation, B 702, Neelkanth Business Park Kirol Village, Mumbai 400 086, Indiaen_US
dc.identifier.affiliationsIntegrative Pharmacogenomics Institute, Universiti Teknologi MARA Selangor Branch, Puncak Alam Campus, Shah Alam, Malaysia; Faculty of Pharmacy, Universiti Teknologi MARA Selangor Branch, Puncak Alam Campus, Shah Alam, Malaysiaen_US
dc.identifier.citationROPHINA MERCY, KEK TEH LAY, SIVASUBBU SRIDHAR, SCARIA VINOD, SALLEH MOHD ZAKI . In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations. Journal of Genetics . 2023 Aug; 102: 1-17en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/238627
dc.languageenen_US
dc.publisherThe Indian Academy of Sciencesen_US
dc.relation.volume102en_US
dc.source.urihttps://doi.org/10.1007/s12041-023-01438-6en_US
dc.subjectblood profilingen_US
dc.subjectgenotypingen_US
dc.subjectnext generation sequencing dataen_US
dc.subjectMalaysiaen_US
dc.subjectOrang Aslien_US
dc.subjectrare blood groups.en_US
dc.titleIn silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populationsen_US
dc.typeJournal Articleen_US
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