Genetic landscape of human platelet antigen variants in the Indian population analysed from 1029 whole genomes |
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Authors: | Mercy Rophina Rahul C. Bhoyar Mohamed Imran Vigneshwar Senthivel Mohit Kumar Divakar Anushree Mishra Aastha Vatsyayan Bani Jolly Sridhar Sivasubbu Vinod Scaria |
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Affiliation: | 1. CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India;2. CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India |
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Abstract: | Genetic variants in human platelet antigens (HPAs) considered allo- or auto antigens are associated with various disorders, including neonatal alloimmune thrombocytopenia, platelet transfusion refractoriness and post-transfusion purpura. Although global differences in genotype frequencies were observed, the distributions of HPA variants in the Indian population are largely unknown. This study aims to explore the landscape of HPA variants in India to provide a basis for risk assessment and management of related complications. Population-specific frequencies of genetic variants associated with the 35 classes of HPAs (HPA-1 to HPA-35) were estimated by systematically analysing genomic variations of 1029 healthy Indian individuals as well as from global population genome datasets. Allele frequencies of the most clinically relevant HPA systems in the Indian population were found as follows, HPA-1a – 0.884, HPA-1b – 0.117, HPA-2a – 0.941, HPA-2b – 0.059, HPA-3a – 0.653, HPA-3b – 0.347, HPA-4a – 0.999, HPA-4b – 0.0010, HPA-5a – 0.923, HPA-5b – 0.077, HPA-6a – 0.998, HPA-6b – 0.002, HPA-15a – 0.582 and HPA-15b – 0.418. This study provides the first comprehensive analysis of HPA allele and genotype frequencies using large scale representative whole genome sequencing data of the Indian population. |
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Keywords: | allele frequency genotype prevalence human platelet antigens Indian population |
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