Cited 1 times in
Investigation of blood group genotype prevalence in Korean population using large genomic databases
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김신영 | - |
dc.contributor.author | 권순성 | - |
dc.date.accessioned | 2023-11-07T07:26:08Z | - |
dc.date.available | 2023-11-07T07:26:08Z | - |
dc.date.issued | 2023-09 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/196422 | - |
dc.description.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. © 2023. Springer Nature Limited. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isPartOf | SCIENTIFIC REPORTS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Blood Group Antigens* / genetics | - |
dc.subject.MESH | Genomics | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Prevalence | - |
dc.subject.MESH | Republic of Korea / epidemiology | - |
dc.title | Investigation of blood group genotype prevalence in Korean population using large genomic databases | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Cheol O Bae | - |
dc.contributor.googleauthor | Soon Sung Kwon | - |
dc.contributor.googleauthor | Sinyoung Kim | - |
dc.identifier.doi | 10.1038/s41598-023-42473-8 | - |
dc.contributor.localId | A00675 | - |
dc.relation.journalcode | J02646 | - |
dc.identifier.eissn | 2045-2322 | - |
dc.identifier.pmid | 37714914 | - |
dc.contributor.alternativeName | Kim, Sin Young | - |
dc.contributor.affiliatedAuthor | 김신영 | - |
dc.citation.volume | 13 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 15326 | - |
dc.identifier.bibliographicCitation | SCIENTIFIC REPORTS, Vol.13(1) : 15326, 2023-09 | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.