PMID- 22914434 OWN - NLM STAT- MEDLINE DCOM- 20130318 LR - 20221207 IS - 1476-5470 (Electronic) IS - 1466-4879 (Linking) VI - 13 IP - 7 DP - 2012 Oct TI - HLA and SNP haplotype mapping in the Japanese population. PG - 543-8 LID - 10.1038/gene.2012.35 [doi] AB - The genes that encode the human leukocyte antigen (HLA) class I and II molecules are highly polymorphic and located in the major histocompatibility complex (MHC) region, where there is a high density of immune-related genes. Numerous studies have identified disease susceptibility in this region; however, interpretation of the results is complicated because of the strong linkage disequilibrium (LD) among HLA alleles and single-nucleotide polymorphisms (SNPs). In this study, we evaluated the correlation between the HLA alleles of 6 loci (HLA-A, C, B, DRB1, DQB1 and DPB1) and 6502 SNPs within 8 Mb of the extended MHC region using 92 Japanese subjects to identify SNP single loci or haplotypes that tag HLA alleles. We found a total of 39 HLA alleles that showed strong LD (r(2)>/=0.8) with SNPs, including 11 non-synonymous SNPs in non-HLA genes. In addition, we identified several SNP haplotypes in strong LD (r(2)>/=0.8) with eight HLA alleles, which do not possess tag SNPs. Our detailed list of tag SNPs and haplotypes could be utilized for a better understanding of the results obtained by association studies in the Japanese population and for the characterization of the differences in LD structures between races. FAU - Kitajima, H AU - Kitajima H AD - Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan. FAU - Sonoda, M AU - Sonoda M FAU - Yamamoto, K AU - Yamamoto K LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120823 PL - England TA - Genes Immun JT - Genes and immunity JID - 100953417 RN - 0 (HLA Antigens) SB - IM MH - Asian People/*genetics MH - HLA Antigens/*genetics MH - *Haplotypes MH - Humans MH - Japan MH - *Polymorphism, Single Nucleotide EDAT- 2012/08/24 06:00 MHDA- 2013/03/19 06:00 CRDT- 2012/08/24 06:00 PHST- 2012/08/24 06:00 [entrez] PHST- 2012/08/24 06:00 [pubmed] PHST- 2013/03/19 06:00 [medline] AID - gene201235 [pii] AID - 10.1038/gene.2012.35 [doi] PST - ppublish SO - Genes Immun. 2012 Oct;13(7):543-8. doi: 10.1038/gene.2012.35. Epub 2012 Aug 23.