PMID- 33258398 OWN - NLM STAT- MEDLINE DCOM- 20220504 LR - 20220504 IS - 1563-5244 (Electronic) IS - 0883-0185 (Linking) VI - 41 IP - 2 DP - 2022 TI - A comprehensive overview on the genetics of Behcet's disease. PG - 84-106 LID - 10.1080/08830185.2020.1851372 [doi] AB - Behcet's disease (BD) is a systemic and inflammatory disease, characterized mainly by recurrent oral and genital ulcers, eye involvement, and skin lesions. Although the exact etiopathogenesis of BD remains unrevealed, a bulk of studies have implicated the genetic contributing factors as critical players in disease predisposition. In countries along the Silk Road, human leukocyte antigen (HLA)-B51 has been reported as the strongest genetically associated factor for BD. Genome-wide association studies, local genetic polymorphism studies, and meta-analysis of combined data from Turkish, Iranian, and Japanese populations have also identified new genetic associations with BD. Among these, other HLA alleles such as HLA-B*15, HLA-B*27, HLA-B*57, and HLA-A*26 have been found as independent risk factors for BD, whereas HLA-B*49 and HLA-A*03 are independent protective alleles for BD. Moreover, other genes have also reached the genome-wide significance level of association with BD susceptibility, including IL10, IL23R-IL12RB2, IL12A, CCR1-CCR3, STAT4, TNFAIP3, ERAP1, KLRC4, and FUT2. Also, several rare nonsynonymous variants in TLR4, IL23R, NOD2, and MEFV genes have been reported to be involved in BD pathogenesis. According to genetic determinants in the loci outside the MHC region that are contributed to the host defense, immunity, and inflammation pathways, it is suggested that immune responses to the pathogen as an important environmental factor and mucosal immunity contribute to BD susceptibility. FAU - Mahmoudi, Mahdi AU - Mahmoudi M AUID- ORCID: 0000-0002-8164-8831 AD - Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AD - Inflammation Research Center, Tehran University of Medical Sciences, Tehran, Iran. FAU - Aslani, Saeed AU - Aslani S AD - Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. FAU - Meguro, Akira AU - Meguro A AD - Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan. FAU - Akhtari, Maryam AU - Akhtari M AD - Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AD - Inflammation Research Center, Tehran University of Medical Sciences, Tehran, Iran. FAU - Fatahi, Yousef AU - Fatahi Y AD - Faculty of Pharmacy, Department of Pharmaceutical Nanotechnology, Tehran University of Medical Sciences, Tehran, Iran. AD - Nanotechnology Research Centre, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran. FAU - Mizuki, Nobuhisa AU - Mizuki N AD - Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan. FAU - Shahram, Farhad AU - Shahram F AD - Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. LA - eng PT - Journal Article PT - Meta-Analysis DEP - 20201201 PL - England TA - Int Rev Immunol JT - International reviews of immunology JID - 8712260 RN - 0 (HLA-A Antigens) RN - 0 (HLA-B Antigens) RN - 0 (HLA-B51 Antigen) RN - 0 (MEFV protein, human) RN - 0 (Minor Histocompatibility Antigens) RN - 0 (Pyrin) RN - EC 3.4.11.- (Aminopeptidases) RN - EC 3.4.11.- (ERAP1 protein, human) SB - IM MH - Aminopeptidases/genetics MH - *Behcet Syndrome/genetics MH - Genetic Predisposition to Disease MH - Genome-Wide Association Study MH - HLA-A Antigens/genetics MH - HLA-B Antigens/genetics MH - HLA-B51 Antigen/genetics MH - Humans MH - Iran MH - Minor Histocompatibility Antigens MH - Pyrin/genetics OTO - NOTNLM OT - Behcet's disease OT - GWAS OT - Genetic association OT - Inflammation EDAT- 2020/12/02 06:00 MHDA- 2022/05/06 06:00 CRDT- 2020/12/01 08:36 PHST- 2020/12/02 06:00 [pubmed] PHST- 2022/05/06 06:00 [medline] PHST- 2020/12/01 08:36 [entrez] AID - 10.1080/08830185.2020.1851372 [doi] PST - ppublish SO - Int Rev Immunol. 2022;41(2):84-106. doi: 10.1080/08830185.2020.1851372. Epub 2020 Dec 1.