PMID- 28261975 OWN - NLM STAT- MEDLINE DCOM- 20180827 LR - 20221207 IS - 1756-185X (Electronic) IS - 1756-1841 (Linking) VI - 21 IP - 1 DP - 2018 Jan TI - Association between genetic variants in the human leukocyte antigen-B/MICA and Takayasu arteritis in Chinese Han population. PG - 271-277 LID - 10.1111/1756-185X.13012 [doi] AB - AIM: Takayasu arteritis (TA) is a rare autoimmune disease with ethnic differences. Genome-wide association studies (GWAS) showed novel genetic variants in the human leukocyte antigen (HLA) region were associated with TA. The present study aimed to investigate the linkage between these single nucleotide polymorphisms (SNP) and TA in a Chinese Han population. METHODS: Four hundred and twelve patients from multiple centers and 597 healthy controls were genotyped using the Sequenom MassArray iPLEX platform. The association between these SNPs and various clinical symptom of TA was also investigated. RESULTS: Our study showed a higher risk allele frequency of rs12524487 in TA patients compared to healthy controls (26.6% vs. 21.7%, odds ratio [OR] 1.31, 95% CI 1.06-1.61). The other SNP rs9366782 in HLA-B/MICA (major histocompatibility complex class I polypeptide-related sequence A) showed association with TA ischemic brain disease (OR: 1.78, 95% CI: 1.16-2.73, P(c) = 0.03). However, rs3763288 and rs114202986 in MICA were negatively related to TA either as a whole or in any clinical features. Meanwhile, ATGT(rs9366782, rs12524487, rs3763288 and rs114202986) were the risk haplotypes (P(c) = 2.48 x 10(-10) ). CONCLUSIONS: Our findings indicated that rs12524487 in HLA-B/MICA was a genetic risk factor for TA in a Chinese Han population and rs9366782 in this region was associated with ischemic brain disease in TA but not TA susceptibility. CI - (c) 2017 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd. FAU - Wen, Xiaoting AU - Wen X AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Chen, Si AU - Chen S AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. AD - Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. FAU - Li, Jing AU - Li J AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Li, Yuan AU - Li Y AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Li, Liubing AU - Li L AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Wu, Ziyan AU - Wu Z AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Yuan, Hui AU - Yuan H AD - Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. FAU - Tian, Xinping AU - Tian X AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Zhang, Fengchun AU - Zhang F AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. FAU - Li, Yongzhe AU - Li Y AD - Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. LA - eng PT - Journal Article DEP - 20170305 PL - England TA - Int J Rheum Dis JT - International journal of rheumatic diseases JID - 101474930 RN - 0 (HLA-B Antigens) RN - 0 (Histocompatibility Antigens Class I) RN - 0 (MHC class I-related chain A) SB - IM MH - Adult MH - Asian People/genetics MH - Brain Ischemia/diagnosis/ethnology/genetics/immunology MH - Case-Control Studies MH - Chi-Square Distribution MH - China/epidemiology MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - Genetic Predisposition to Disease MH - HLA-B Antigens/*genetics/immunology MH - Haplotypes MH - Histocompatibility Antigens Class I/*genetics/immunology MH - Humans MH - Linkage Disequilibrium MH - Male MH - Middle Aged MH - Odds Ratio MH - Phenotype MH - *Polymorphism, Single Nucleotide MH - Risk Factors MH - Takayasu Arteritis/diagnosis/ethnology/*genetics/immunology MH - Young Adult OTO - NOTNLM OT - MICA OT - Takayasu arteritis OT - human leukocyte antigen-B OT - single-nucleotide polymorphisms EDAT- 2017/03/07 06:00 MHDA- 2018/08/28 06:00 CRDT- 2017/03/07 06:00 PHST- 2017/03/07 06:00 [pubmed] PHST- 2018/08/28 06:00 [medline] PHST- 2017/03/07 06:00 [entrez] AID - 10.1111/1756-185X.13012 [doi] PST - ppublish SO - Int J Rheum Dis. 2018 Jan;21(1):271-277. doi: 10.1111/1756-185X.13012. Epub 2017 Mar 5.