ArticlePloS one2012
Evolutionary analysis of classical HLA class I and II genes suggests that recent positive selection acted on DPB1*04:01 in Japanese population.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- High-density Association Mapping and Interaction Analysis of PLA2R1 and HLA Regions with Idiopathic Membranous Nephropathy in Japanese.Scientific reports · 2016Trial
- Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations.Molecular biology and evolution · 2023Article
- Impact of germline HLA genotypes on clinical outcomes in patients with urothelial cancer treated with pembrolizumab.Cancer science · 2022Article
- The genetic and evolutionary determinants of COVID-19 susceptibility.European journal of human genetics : EJHG · 2022Review
- HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in Lebanese and their relatedness to neighboring and distant populations.BMC genomics · 2022Article
- Frequent HLA-DR loss on hematopoietic stem progenitor cells in patients with cyclosporine-dependent aplastic anemia carrying HLA-DR15.Leukemia · 2022Article
- Protective association of HLA-DPB1*04:01:01 with acute encephalopathy with biphasic seizures and late reduced diffusion identified by HLA imputation.Genes and immunity · 2022Article
- HLA Diversity in Saudi Population: High Frequency of Homozygous HLA Alleles and Haplotypes.Frontiers in genetics · 2022Article
- Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss.EBioMedicine · 2020Article
- Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population.Molecular biology and evolution · 2020Article
- Association of HLA-DRB1 genotype with younger age onset and elder age onset rheumatoid arthritis in Japanese populations.Medicine · 2019Article
- The Role of Major Histocompatibility Complex in Organ Transplantation- Donor Specific Anti-Major Histocompatibility Complex Antibodies Analysis Goes to the Next Stage.International journal of molecular sciences · 2019Review
- Analysis of type 2 diabetes and obesity genetic variants in Mexican Pima Indians: Marked allelic differentiation among Amerindians at HLA.Annals of human genetics · 2018Article
- Key HLA-DRB1-DQB1 haplotypes and role of the BTNL2 gene for response to a hepatitis B vaccine.Hepatology (Baltimore, Md.) · 2018Article
- Strong Association of theJournal of the American Society of Nephrology : JASN · 2018Article
- Localization of adaptive variants in human genomes using averaged one-dependence estimation.Nature communications · 2018Article
- Population Genetics and Natural Selection in Rheumatic Disease.Rheumatic diseases clinics of North America · 2017Review
- The role of common protective alleles HLA-DRB1*13 among systemic autoimmune diseases.Genes and immunity · 2017Review
- Parallel or convergent evolution in human population genomic data revealed by genotype networks.BMC evolutionary biology · 2016Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human leukocyte antigen (HLA) genes exhibit the highest degree of polymorphism in the human genome. This high degree of variation at classical HLA class I and class II loci has been maintained by balancing selection for a long evolutionary time. However, little is known about recent positive selection acting on specific HLA alleles in a local population. To detect the signature of recent positive selection, we genotyped six HLA loci, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1, and HLA-DPB1 in 418 Japanese subjects, and then assessed the haplotype homozygosity (HH) of each HLA allele. There were 120 HLA alleles across the six loci. Among the 80 HLA alleles with frequencies of more than 1%, DPB1*04∶01, which had a frequency of 6.1%, showed exceptionally high HH (0.53). This finding raises the possibility that recent positive selection has acted on DPB1*04∶01. The DPB1*04∶01 allele, which was present in the most common 6-locus HLA haplotype (4.4%), A*33∶03-C*14∶03-B*44∶03-DRB1*13∶02-DQB1*06∶04-DPB1*04∶01, seems to have flowed from the Korean peninsula to the Japanese archipelago in the Yayoi period. A stochastic simulation approach indicated that the strong linkage disequilibrium between DQB1*06∶04 and DPB1*04∶01 observed in Japanese cannot be explained without positive selection favoring DPB1*04∶01. The selection coefficient of DPB1*04∶01 was estimated as 0.041 (95% credible interval 0.021-0.077). Our results suggest that DPB1*04∶01 has recently undergone strong positive selection in Japanese population.
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