Distribution of HLA class I and II genetic profiles of Indian population: A regional analysis using 30,027 umbilical cord blood samples
Umbilical cord blood (UCB) is a valuable source of hematopoietic stem cells for treating life-threatening haematological disorders. India's vast population, known for its cultural, linguistic, and genetic diversity, requires a significant need for HLA-matched donors. We analyzed HLA-A, -B, -C, -DRB1, and -DQB1 allele and haplotype diversity in 30,027 UCB units. Samples were categorized into six broad regional populations and further sub-clustered into nine groups based on the predominant language spoken. The most frequent haplotypes identified were A*33:03 ∼ B*44:03 ∼ C*07:06 ∼ DRB1*07:01 ∼ DQB1*02:02 (2.6 %), A*01:01 ∼ B*57:01 ∼ C*06:02 ∼ DRB1*07:01 ∼ DQB1*03:03 (2.4 %), and A*01:01 ∼ B*37:01 ∼ C*06:02 ∼ DRB1*10:01 ∼ DQB1*05:01 (1.4 %), showing significant inter-regional differences. We observed distinct allele distributions and high haplotype diversity, with the India South UCBB population displaying the highest number of unique haplotypes (63 %). Genetic distance analysis and multidimensional scaling revealed genetic relatedness between the regional and sub-regional populations. These findings offer key insights into Indian HLA diversity, inform donor recruitment strategies, enhance understanding of genetic relatedness to neighbouring populations, and highlight the need for population-specific repositories.