PMID- 23056460
OWN - NLM
STAT- MEDLINE
DCOM- 20130503
LR  - 20221207
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 7
IP  - 10
DP  - 2012
TI  - Evolutionary analysis of classical HLA class I and II genes suggests that recent 
      positive selection acted on DPB1*04:01 in Japanese population.
PG  - e46806
LID - 10.1371/journal.pone.0046806 [doi]
LID - e46806
AB  - 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*04ratio01, 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*04ratio01. The DPB1*04ratio01 allele, which was present in the most common 6-locus 
      HLA haplotype (4.4%), A*33ratio03-C*14ratio03-B*44ratio03-DRB1*13ratio02-DQB1*06ratio04-DPB1*04ratio01, 
      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*06ratio04 and DPB1*04ratio01 observed in Japanese cannot be 
      explained without positive selection favoring DPB1*04ratio01. The selection 
      coefficient of DPB1*04ratio01 was estimated as 0.041 (95% credible interval 
      0.021-0.077). Our results suggest that DPB1*04ratio01 has recently undergone strong 
      positive selection in Japanese population.
FAU - Kawashima, Minae
AU  - Kawashima M
AD  - Department of Human Genetics, Graduate School of Medicine, The University of 
      Tokyo, Tokyo, Japan.
FAU - Ohashi, Jun
AU  - Ohashi J
FAU - Nishida, Nao
AU  - Nishida N
FAU - Tokunaga, Katsushi
AU  - Tokunaga K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121003
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - 0 (HLA-A Antigens)
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-C Antigens)
RN  - 0 (HLA-DP beta-Chains)
RN  - 0 (HLA-DPB1 antigen)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Histocompatibility Antigens Class II)
SB  - IM
MH  - Asian People
MH  - Gene Frequency/genetics
MH  - Genotype
MH  - HLA-A Antigens/genetics
MH  - HLA-B Antigens/genetics
MH  - HLA-C Antigens/genetics
MH  - HLA-DP beta-Chains/genetics
MH  - HLA-DQ beta-Chains/genetics
MH  - Haplotypes
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Histocompatibility Antigens Class II/*genetics
MH  - Humans
MH  - Selection, Genetic/*genetics
PMC - PMC3463557
COIS- Competing Interests: The authors have declared that no competing interests exist.
EDAT- 2012/10/12 06:00
MHDA- 2013/05/04 06:00
PMCR- 2012/10/03
CRDT- 2012/10/12 06:00
PHST- 2012/05/02 00:00 [received]
PHST- 2012/09/10 00:00 [accepted]
PHST- 2012/10/12 06:00 [entrez]
PHST- 2012/10/12 06:00 [pubmed]
PHST- 2013/05/04 06:00 [medline]
PHST- 2012/10/03 00:00 [pmc-release]
AID - PONE-D-12-12486 [pii]
AID - 10.1371/journal.pone.0046806 [doi]
PST - ppublish
SO  - PLoS One. 2012;7(10):e46806. doi: 10.1371/journal.pone.0046806. Epub 2012 Oct 3.