Investigation of blood group genotype prevalence in Korean population using large genomic databases

Abstract

Blood group antigens, which are prominently expressed in red blood cells, are important in transfusion medicine. The advent of high-throughput genome sequencing technology has facilitated the prediction of blood group antigen phenotypes based on genomic data. In this study, we analyzed data from a large Korean population to provide an updated prevalence of blood group antigen phenotypes, including rare ones. A robust dataset comprising 72,291 single nucleotide polymorphism arrays, 5318 whole-exome sequences, and 4793 whole-genome sequences was extracted from the Korean Genome and Epidemiology Study, Genome Aggregation Database, and Korean Variant Archive and then analyzed. The phenotype prevalence of clinically significant blood group antigens, including MNSs, RHCE, Kidd, Duffy, and Diego, was predicted through genotype analysis and corroborated the existing literature. We identified individuals with rare phenotypes, including 369 (0.51%) with Fy(a−b+), 188 (0.26%) with Di(a+b−), and 16 (0.02%) with Jr(a−). Furthermore, we calculated the frequencies of individuals with extremely rare phenotypes, such as p (0.000004%), Kell-null (0.000310%), and Jk(a−b−) (0.000438%), based on allele frequency predictions. These findings offer valuable insights into the distribution of blood group antigens in the Korean population and have significant implications for enhancing the safety and efficiency of blood transfusion.

Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology

“…From the results of the NGS method, only one high-frequency genotype was found in the following blood group systems, including P1PK, Lutheran, Kell, Yt, Xg, Scianna, Colton, Kx, Cromer, Knops, Indian, Ok, Raph, John Milton Hagen, I, Gill, FORS, Rh-associated glycoprotein, FORS, Vel, CD59, and Augustine blood groups. In addition, red blood cell phenotype frequencies among Chinese in this study was compared to reported data in other populations ( Table 2 ) [ [23] , [24] , [25] , [26] ].…”

“…All polymorphism sites in the exon and flanking intron regions of 36 blood group systems can theoretically be detected by the NGS method. There are differences in phenotypes of the blood group systems in different countries and regions [ [23] , [24] , [25] , [26] ]. Interestingly, some null alleles were found.…”