Landscape of Blood Group Antigens and Alleles in the Indian Population from Whole Genome Sequences

Blood group antigens are genetically inherited macromolecular structures which form the underlying factor for inter individual variations in human blood. Currently there exists over 390 human blood group antigens corresponding to 44 blood group systems and 2 erythroid specific transcription factors. Distribution of these blood group antigens have been found to differ significantly among various ethnic populations. To date, there is a lack of comprehensive research that offers extensive blood group profiles for the Indian population. Whole genome sequence data (hg38) of 1029 self-declared healthy Indian individuals generated as a part of the pilot phase IndiGen programme were used for the analysis. Variants spanning the genes of 44 blood group systems and two transcription factors KLF1, GATA1 were fetched and annotated for their functional consequences. Our study reports a total of 40712 blood group related variants of which 695 were identified as non-synonymous variants in the coding region. Of the total non-synonymous variants, 105 were found to have a known blood phenotype. A total of 24 variants belonging to 12 blood groups were predicted to be deleterious by more than three computational tools. Our study was also able to identify a few rare blood phenotypes including Au(a-b+), Js(a+b+), Di(a+b-), In(a+b-) and KANNO-. This study is the first to use genomic data to understand the blood group antigen profiles of the Indian population, and it also systematically compares these profiles with those of other global populations. Key points ![Figure][1] ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study was funded by The Council of Scientific and Industrial Research, India (Grant : MLP2001/GenomeApp). ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes All data produced in the present work are contained in the manuscript [1]: pending:yes