PMID- 21654846 OWN - NLM STAT- MEDLINE DCOM- 20120214 LR - 20221207 IS - 1476-5470 (Electronic) IS - 1466-4879 (Print) IS - 1466-4879 (Linking) VI - 12 IP - 7 DP - 2011 Oct TI - SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients. PG - 523-30 LID - 10.1038/gene.2011.25 [doi] AB - Although several major histocompatibility complex (MHC)-wide single-nucleotide polymorphism (SNP) studies have been performed in populations of European descent, none have been performed in Asian populations. The objective of this study was to identify human leukocyte antigen (HLA) loci associated with multiple sclerosis (MS) in a Japanese population genotyped for 3534 MHC region SNPs. Using a logistic regression model, two SNPs (MHC Class III SNP rs422951 in the NOTCH4 gene and MHC Class II SNP rs3997849, susceptible alleles A and G, respectively) were independently associated with MS susceptibility (204 patients; 280 controls), two (MHC Class II SNP rs660895 and MHC Class I SNP rs2269704 in the NRM gene, susceptible alleles G and G, respectively) with aquaporin-4- (AQP4-) MS susceptibility (149 patients; 280 controls) and a single SNP (MHC Class II SNP rs1694112, susceptible allele G) was significant when contrasting AQP4+ against AQP4- patients. Haplotype analysis revealed a large susceptible association, likely DRB1*04 or a locus included in the DRB1*04 haplotype, with AQP4- MS, which excluded DRB1*15:01. This study is the largest study of the HLA's contribution to MS in Japanese individuals. FAU - McElroy, J P AU - McElroy JP AD - Department of Neurology, University of California, San Francisco (UCSF), San Francisco, CA 94143, USA. Joseph.P.McElroy@gmail.com FAU - Isobe, N AU - Isobe N FAU - Gourraud, P A AU - Gourraud PA FAU - Caillier, S J AU - Caillier SJ FAU - Matsushita, T AU - Matsushita T FAU - Kohriyama, T AU - Kohriyama T FAU - Miyamoto, K AU - Miyamoto K FAU - Nakatsuji, Y AU - Nakatsuji Y FAU - Miki, T AU - Miki T FAU - Hauser, S L AU - Hauser SL FAU - Oksenberg, J R AU - Oksenberg JR FAU - Kira, J AU - Kira J LA - eng GR - RG3060C8/RG/CSR NIH HHS/United States GR - R01NS46297/NS/NINDS NIH HHS/United States GR - R01 NS026799/NS/NINDS NIH HHS/United States GR - R01 NS046297/NS/NINDS NIH HHS/United States GR - U19AI067152/AI/NIAID NIH HHS/United States GR - U19 AI067152/AI/NIAID NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20110609 PL - England TA - Genes Immun JT - Genes and immunity JID - 100953417 RN - 0 (HLA Antigens) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Alleles MH - Asian People/genetics MH - Female MH - Genetic Association Studies MH - HLA Antigens/*genetics MH - HLA-DRB1 Chains/genetics MH - Haplotypes MH - Humans MH - Japan MH - Male MH - Multiple Sclerosis/*genetics MH - Phenotype MH - *Polymorphism, Single Nucleotide PMC - PMC3361962 MID - NIHMS374860 COIS- Conflict of interest The authors declare no conflict of interest. EDAT- 2011/06/10 06:00 MHDA- 2012/02/15 06:00 PMCR- 2012/05/29 CRDT- 2011/06/10 06:00 PHST- 2011/06/10 06:00 [entrez] PHST- 2011/06/10 06:00 [pubmed] PHST- 2012/02/15 06:00 [medline] PHST- 2012/05/29 00:00 [pmc-release] AID - gene201125 [pii] AID - 10.1038/gene.2011.25 [doi] PST - ppublish SO - Genes Immun. 2011 Oct;12(7):523-30. doi: 10.1038/gene.2011.25. Epub 2011 Jun 9.