HLA-B27与强直性脊柱炎相关性研究进展
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摘要
在近几十年中,有关强直性脊柱炎的研究取得了重大进展,基因组学的相关研究已经证实并明确了包括组织性相容复合体基因在内的易感基因在强直性脊柱炎发病中扮演着重要的角色。HLA-B27作为人类的I型组织相容性复合体在强直性脊柱炎的诊断、发病机制研究中发挥着重大的作用。本文将从HLA-B27分子、HLA-B27与强制性脊柱炎关系、以及HLA-B27检测在强制性脊柱炎诊断中的作用等相关研究进展作一综述。
In recent years,investigators have made great progress in research on ankylosing spondylitis. It has been confirmed and clarified that susceptibility genes,including the tissue compatibility complex genes,play an important role in the pathogenesis of ankylosing spondylitis. As the human histocompatibility complex I,HLA-B27 plays an important role in the diagnosis and pathogenesis of ankylosing spondylitis. This article will review the research progress of HLA-B27 molecules and the relationship between HLA-B27 and ankylosing spondylitis,and the role of HLA-B27 detection in the diagnosis of ankylosing spondylitis.
In recent years,investigators have made great progress in research on ankylosing spondylitis. It has been confirmed and clarified that susceptibility genes,including the tissue compatibility complex genes,play an important role in the pathogenesis of ankylosing spondylitis. As the human histocompatibility complex I,HLA-B27 plays an important role in the diagnosis and pathogenesis of ankylosing spondylitis. This article will review the research progress of HLA-B27 molecules and the relationship between HLA-B27 and ankylosing spondylitis,and the role of HLA-B27 detection in the diagnosis of ankylosing spondylitis.
引文
[1]王师,童能胜,张火兵,等.流式细胞术在临床检验中的应用[J].检验医学与临床,2017,14(6):897-902.
[2]BRAUN J,SIEPER J.Ankylosing spondylitis[J].Lancet,2007,369:13791390.
[3]International Genetics of Ankylosing Spondylitis Consortium(IGAS),CORTES A,HADLER J,et al.Identification of multiple risk variants for ankylosing spondylitis through highdensity genotyping of immunerelated loci[J].Nat Genet 2013,45(7):730738.
[4]SORRENTINO R,BCKMANN R A,FIORILLO M T,et al.HLAB27 and antigen presentation:at the crossroads between immune defense and autoimmunity[J].Mol Immunol.2014,57(1):22-27.
[5]LIM CSE,SENGUPTA R,GAFFNEY K,et al.The clinical utility of human leucocyte antigen B27 in axial spondyloarthritis[J].Rheumatology(Oxford),2017,25.(10):1093-1102.
[6]HANSON A,BROWN M A.Genetics and the Causes of Ankylosing Spondylitis[J].Brief Funct Genomics,2011,43(3):401414.
[7]KENNA T J,ROBINSON P C,HAROON N,et al.Endoplasmic reticulum aminopeptidases in the pathogenesis of ankylosing spondylitis[J].Rheumatology(Oxford),2015,54(9):1549-1556.
[8]BEN D L,BARNEA E,BEER I,et al.The HLA-B*2705peptidome[J].Arthritis Rheum,2010,62(2):420-429.
[9]MURADIYE A,TULIN C,RECEP T,et al.HLA-B27 sub-types in Turkish patients with ankylosing spondylitis and healthy controls[J].Rheumatol Int,2012,32(10):3013-3105.
[10]REVEILLE J D,SIMS A M,DANOY P,et al.Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci[J].Nat Genet,2010,42(2):123-127.
[11]DELAY M L,TURNER M J,KLENK E I,et al.HLAB27 misfolding and the unfolded protein response augment interleukin23 production and are associated with Th17 activation in transgenic rats[J].Arthritis Rheum,2009,60(9):26332643.
[12]CHATZIKYRIAKIDOU A,VOULGARI P V,DROSOS A A,et al.What is the role of HLAB27 in spondyloarthropathies?[J].Autoimmun Rev,2011.10(8):464468.
[13]LINDEN S,VALKENBURG HA,CATS A.A Proposal Formodification of the New York Criteria[J].Arthritis Rheum,1984,27(4):361-368.
[14]PAZR B,SFRNY E,GERGELY P,et al.Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population:the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis[J].J Rheumatol,2010,37(2):380-384.
[15]ELEWAUT D,BURGOS-VARGAS R,STEBBINGS S,et al.Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci[J].Nat Genet,2013,45(7):730-738.
[16]白世杰,托娅,张保平,等.强直性脊柱炎及其相关基因HLAB27检测的研究现状[J].分子诊断与治疗杂志,2016,8(3):201-212
[17]韩军艳.采用PCR-SSP方法检测强直性脊柱炎患者HLA-B27亚型[J].第三军医大学学报,2003,25(15):1394-1395.
[18]祁军,古洁若.HLA-B27在强直性脊柱炎发病机制中的作用研究进展[J].新医学,2011,42(3):203-206.
[19]CHO H,KIM T,KIM T H,et al.Spinal mobility,vertebral squaring,pulmonary function,pain,fatigue,and quality of life in patients with ankylosing spondylitis[J].Ann Rehabil Med,2013,37(5):675682.
[2]BRAUN J,SIEPER J.Ankylosing spondylitis[J].Lancet,2007,369:13791390.
[3]International Genetics of Ankylosing Spondylitis Consortium(IGAS),CORTES A,HADLER J,et al.Identification of multiple risk variants for ankylosing spondylitis through highdensity genotyping of immunerelated loci[J].Nat Genet 2013,45(7):730738.
[4]SORRENTINO R,BCKMANN R A,FIORILLO M T,et al.HLAB27 and antigen presentation:at the crossroads between immune defense and autoimmunity[J].Mol Immunol.2014,57(1):22-27.
[5]LIM CSE,SENGUPTA R,GAFFNEY K,et al.The clinical utility of human leucocyte antigen B27 in axial spondyloarthritis[J].Rheumatology(Oxford),2017,25.(10):1093-1102.
[6]HANSON A,BROWN M A.Genetics and the Causes of Ankylosing Spondylitis[J].Brief Funct Genomics,2011,43(3):401414.
[7]KENNA T J,ROBINSON P C,HAROON N,et al.Endoplasmic reticulum aminopeptidases in the pathogenesis of ankylosing spondylitis[J].Rheumatology(Oxford),2015,54(9):1549-1556.
[8]BEN D L,BARNEA E,BEER I,et al.The HLA-B*2705peptidome[J].Arthritis Rheum,2010,62(2):420-429.
[9]MURADIYE A,TULIN C,RECEP T,et al.HLA-B27 sub-types in Turkish patients with ankylosing spondylitis and healthy controls[J].Rheumatol Int,2012,32(10):3013-3105.
[10]REVEILLE J D,SIMS A M,DANOY P,et al.Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci[J].Nat Genet,2010,42(2):123-127.
[11]DELAY M L,TURNER M J,KLENK E I,et al.HLAB27 misfolding and the unfolded protein response augment interleukin23 production and are associated with Th17 activation in transgenic rats[J].Arthritis Rheum,2009,60(9):26332643.
[12]CHATZIKYRIAKIDOU A,VOULGARI P V,DROSOS A A,et al.What is the role of HLAB27 in spondyloarthropathies?[J].Autoimmun Rev,2011.10(8):464468.
[13]LINDEN S,VALKENBURG HA,CATS A.A Proposal Formodification of the New York Criteria[J].Arthritis Rheum,1984,27(4):361-368.
[14]PAZR B,SFRNY E,GERGELY P,et al.Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population:the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis[J].J Rheumatol,2010,37(2):380-384.
[15]ELEWAUT D,BURGOS-VARGAS R,STEBBINGS S,et al.Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci[J].Nat Genet,2013,45(7):730-738.
[16]白世杰,托娅,张保平,等.强直性脊柱炎及其相关基因HLAB27检测的研究现状[J].分子诊断与治疗杂志,2016,8(3):201-212
[17]韩军艳.采用PCR-SSP方法检测强直性脊柱炎患者HLA-B27亚型[J].第三军医大学学报,2003,25(15):1394-1395.
[18]祁军,古洁若.HLA-B27在强直性脊柱炎发病机制中的作用研究进展[J].新医学,2011,42(3):203-206.
[19]CHO H,KIM T,KIM T H,et al.Spinal mobility,vertebral squaring,pulmonary function,pain,fatigue,and quality of life in patients with ankylosing spondylitis[J].Ann Rehabil Med,2013,37(5):675682.