强直性脊柱炎易感基因的相关研究进展
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摘要
强直性脊柱炎(ankylosing spondylitis,AS)是临床上常见的一种具有高度遗传性的慢性炎症性疾病。HLA-B27基因被认为是与AS相关性最强的易感基因,但越来越多的研究发现,除HLA-B27基因外,包括内质网氨基肽酶1基因、白细胞介素23/白细胞介素17炎症轴相关基因、肿瘤坏死因子α基因、白细胞介素1基因、杀伤细胞免疫球蛋白样受体基因在内的多种基因均与AS的易感性有关。目前所发现的易感基因与AS关联的机制尚不十分清楚,仍须开展更多高质量、多角度、深层次的研究。
引文
[1] WU Y,ZHANG G,WANG N,et al.Risk factors of renal involvement based on different manifestations in patients with ankylosing spondylitis[J].Kidney Blood Press Res,2018,43(2):367-377.
[2] 吴珊珊,段振华.强直性脊柱炎流行病学研究进展[J].安徽医科大学学报,2013,48(8):988-992.
[3] NURULLAH A,YARKAN H,G?K?E K,et al.Ankylosing spondylitis:HLA-B*27-positive versus HLA-B*27-negative disease[J].Curr Rheumatol Rep,2017,19(5):322-328.
[4] BREWERTON D A.HLA-B27 and the inheritance of susceptibility to rheumatic disease[J].Arthritis Rheum,2010,19(4):656-668.
[5] AKASSOU A,YACOUBI H,JAMIL A,et al.Prevalence of HLA-B27 in Moroccan healthy subjects and patients with ankylosing spondylitis and mapping construction of several factors influencing AS diagnosis by using multiple correspondence analysis[J].Rheumatol Int,2015,35(11):1889-1894.
[6] LIN H,GONG Y Z.Association of HLA-B27 with ankylosing spondylitis and clinical features of the HLA-B27-associated ankylosing spondylitis:a meta-analysis[J].Rheumatol Int,2017,37(8):1267-1280.
[7] KHAN M A,MATHIEU A,SORRENTINO R A.The pathogenetic role of HLA-B27 and its subtypes[J].Autoimmun Rev,2007,6(3):183-189.
[8] LIU Y,JIANG L,CAI Q,et al.Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients[J].Tissue Antigens,2010,75(1):61-64.
[9] TAUROG J D,DORRIS M L,SATUMTIRA N,et al.Spondylarthritis in HLA–B27/human β2-microglobulin–transgenic rats is not prevented by lack of CD8[J].Arthritis Rheum,2009,60(7):1977-1984.
[10] LORIES R J.Animal models of spondyloarthritis[J].Curr Opin Rheumatol,2006,18(4):342-346.
[11] ZHANG L,ZHANG Y J,CHEN J,et al.The association of HLA-B27 and Klebsiella pneumoniae in ankylosing spondylitis:A systematic review[J].Microb Pathog,2018,117:49-54.
[12] KOLLNBERGER S,BIRD L,SUN M Y,et al.Cell-surface expression and immune receptor recognition of HLA-B27 homodimers[J].Arthritis Rheum,2002,46(11):2972-2982.
[13] BOWNESS P,RIDLEY A,SHAW J,et al.Th17 cells expressing KIR3DL2+and responsive to HLA-B27 homodimers are increased in ankylosing spondylitis[J].J Immunol,2011,186(4):2672-2680.
[14] ZHAI J,RONG J,LI Q,et al.Immunogenetic study in Chinese population with ankylosing spondylitis:are there specific genes recently disclosed?[J/OL].Clin Dev Immunol,2013[2018-12-15].https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562651.
[15] International Genetics of Ankylosing Spondylitis Consortium.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] GARCíA-MEDEL N,SANZ-BRAVO A,VAN NGUYEN D,et al.Functional interaction of the ankylosing spondylitis-associated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo[J].Mol Cell Proteomics,2012,11(11):1416-1429.
[17] Wellcome Trust Case Control Consortium,Australo-Anglo-American Spondylitis Consortium,BURTON P R,et al.Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants[J].Nat Genet,2007,39(11):1329-1337.
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[20] 曲哲,钱邦平,邱勇,等.ERAP1基因单核苷酸多态性与中国汉族人群强直性脊柱炎的易感性关联分析[J].中国脊柱脊髓杂志,2015,25(9):832-836.
[21] ETHWA H,BOWNESS P.The interleukin(IL)-23/IL-17 axis in ankylosing spondylitis:new advances and potentials for treatment[J].Clin Exp Immunol,2016,183(1):30-36.
[22] BABAIE F,HASANKHANI M,MOHAMMADI H A,et al.The role of gut microbiota and IL-23/IL-17 pathway in ankylosing spondylitis immunopathogenesis:New insights and updates[J].Immunol Lett,2018,196:52-62.
[23] DANOY P,PRYCE K,HADLER J,et al.Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn’s disease[J].PLoS Genet,2010,6(12):e1001195.
[24] DI MEGLIO P,DI CESARE A,LAGGNER U,et al.The IL23R R381Q gene variant protects against Immune-Mediated diseases by impairing IL-23-Induced Th17 effector response in humans[J].PLoS One,2011,6(2):e17160.
[25] DAVIDSON S I,WU X,LIU Y,et al.Association of ERAP1,but not IL23R,with ankylosing spondylitis in a Han Chinese population[J].Arthritis Rheum,2009,60(11):3263-3268.
[26] DAVIDSON S I,JIANG L,CORTES A,et al.High-Throughput sequencing of IL23R reveals a Low-Frequency,nonsynonymous Single-Nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population[J].Arthritis Rheum,2013,65(7):1747-1752.
[27] CHEN C,ZHANG X E,WANG Y.Analysis of JAK2 and STAT3 polymorphisms in patients with ankylosing spondylitis in Chinese Han population[J].Clinical Immunology,2010,136(3):442-446.
[28] BROWN M A.Breakthroughs in genetic studies of ankylosing spondylitis[J].Rheumatology,2008,47(2):132-137.
[29] LUBRANO E,PERROTTA F M.Secukinumab for ankylosing spondylitis and psoriatic arthritis[J].Ther Clin Risk Manag,2016,12:1587-1592.
[30] 蔡慧颜,钟华.强直性脊柱炎患者外周血TNF-α、IL-17、IL-23的表达[J].现代诊断与治疗,2016,27(18):3340-3342.
[31] JIAO Y L,MA C Y,WANG L C,et al.Polymorphisms of KIRs gene and HLA-C alleles in patients with ankylosing spondylitis:Possible association with susceptibility to the disease[J].J Clin Immunol,2008,28(4):343-349.
[32] DíAZ-PE?A R,VIDAL-CASTIEIRA R J,ALONSO-ARIAS R,et al.Association of the KIR3DS1*013 and KIR3DL1*004 alleles with susceptibility to ankylosing spondylitis[J].Arthritis Rheum,2010,62(4):1000-1006.
[33] Australo-Anglo-American Spondyloarthritis Consortium,REVEILLE J D,SIMS A M,et al.Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci[J].Nat Genet,2010,42(2):123-127.
[2] 吴珊珊,段振华.强直性脊柱炎流行病学研究进展[J].安徽医科大学学报,2013,48(8):988-992.
[3] NURULLAH A,YARKAN H,G?K?E K,et al.Ankylosing spondylitis:HLA-B*27-positive versus HLA-B*27-negative disease[J].Curr Rheumatol Rep,2017,19(5):322-328.
[4] BREWERTON D A.HLA-B27 and the inheritance of susceptibility to rheumatic disease[J].Arthritis Rheum,2010,19(4):656-668.
[5] AKASSOU A,YACOUBI H,JAMIL A,et al.Prevalence of HLA-B27 in Moroccan healthy subjects and patients with ankylosing spondylitis and mapping construction of several factors influencing AS diagnosis by using multiple correspondence analysis[J].Rheumatol Int,2015,35(11):1889-1894.
[6] LIN H,GONG Y Z.Association of HLA-B27 with ankylosing spondylitis and clinical features of the HLA-B27-associated ankylosing spondylitis:a meta-analysis[J].Rheumatol Int,2017,37(8):1267-1280.
[7] KHAN M A,MATHIEU A,SORRENTINO R A.The pathogenetic role of HLA-B27 and its subtypes[J].Autoimmun Rev,2007,6(3):183-189.
[8] LIU Y,JIANG L,CAI Q,et al.Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients[J].Tissue Antigens,2010,75(1):61-64.
[9] TAUROG J D,DORRIS M L,SATUMTIRA N,et al.Spondylarthritis in HLA–B27/human β2-microglobulin–transgenic rats is not prevented by lack of CD8[J].Arthritis Rheum,2009,60(7):1977-1984.
[10] LORIES R J.Animal models of spondyloarthritis[J].Curr Opin Rheumatol,2006,18(4):342-346.
[11] ZHANG L,ZHANG Y J,CHEN J,et al.The association of HLA-B27 and Klebsiella pneumoniae in ankylosing spondylitis:A systematic review[J].Microb Pathog,2018,117:49-54.
[12] KOLLNBERGER S,BIRD L,SUN M Y,et al.Cell-surface expression and immune receptor recognition of HLA-B27 homodimers[J].Arthritis Rheum,2002,46(11):2972-2982.
[13] BOWNESS P,RIDLEY A,SHAW J,et al.Th17 cells expressing KIR3DL2+and responsive to HLA-B27 homodimers are increased in ankylosing spondylitis[J].J Immunol,2011,186(4):2672-2680.
[14] ZHAI J,RONG J,LI Q,et al.Immunogenetic study in Chinese population with ankylosing spondylitis:are there specific genes recently disclosed?[J/OL].Clin Dev Immunol,2013[2018-12-15].https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562651.
[15] International Genetics of Ankylosing Spondylitis Consortium.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] GARCíA-MEDEL N,SANZ-BRAVO A,VAN NGUYEN D,et al.Functional interaction of the ankylosing spondylitis-associated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo[J].Mol Cell Proteomics,2012,11(11):1416-1429.
[17] Wellcome Trust Case Control Consortium,Australo-Anglo-American Spondylitis Consortium,BURTON P R,et al.Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants[J].Nat Genet,2007,39(11):1329-1337.
[18] MAKSYMOWYCH W P,INMAN R D,GLADMAN D D,et al.Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis[J].Arthritis Rheum,2009,60(5):1317-1323.
[19] EVANS D M,SPENCER C C,POINTON J J,et al.Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility[J].Nat Genet,2011,43(8):761-767.
[20] 曲哲,钱邦平,邱勇,等.ERAP1基因单核苷酸多态性与中国汉族人群强直性脊柱炎的易感性关联分析[J].中国脊柱脊髓杂志,2015,25(9):832-836.
[21] ETHWA H,BOWNESS P.The interleukin(IL)-23/IL-17 axis in ankylosing spondylitis:new advances and potentials for treatment[J].Clin Exp Immunol,2016,183(1):30-36.
[22] BABAIE F,HASANKHANI M,MOHAMMADI H A,et al.The role of gut microbiota and IL-23/IL-17 pathway in ankylosing spondylitis immunopathogenesis:New insights and updates[J].Immunol Lett,2018,196:52-62.
[23] DANOY P,PRYCE K,HADLER J,et al.Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn’s disease[J].PLoS Genet,2010,6(12):e1001195.
[24] DI MEGLIO P,DI CESARE A,LAGGNER U,et al.The IL23R R381Q gene variant protects against Immune-Mediated diseases by impairing IL-23-Induced Th17 effector response in humans[J].PLoS One,2011,6(2):e17160.
[25] DAVIDSON S I,WU X,LIU Y,et al.Association of ERAP1,but not IL23R,with ankylosing spondylitis in a Han Chinese population[J].Arthritis Rheum,2009,60(11):3263-3268.
[26] DAVIDSON S I,JIANG L,CORTES A,et al.High-Throughput sequencing of IL23R reveals a Low-Frequency,nonsynonymous Single-Nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population[J].Arthritis Rheum,2013,65(7):1747-1752.
[27] CHEN C,ZHANG X E,WANG Y.Analysis of JAK2 and STAT3 polymorphisms in patients with ankylosing spondylitis in Chinese Han population[J].Clinical Immunology,2010,136(3):442-446.
[28] BROWN M A.Breakthroughs in genetic studies of ankylosing spondylitis[J].Rheumatology,2008,47(2):132-137.
[29] LUBRANO E,PERROTTA F M.Secukinumab for ankylosing spondylitis and psoriatic arthritis[J].Ther Clin Risk Manag,2016,12:1587-1592.
[30] 蔡慧颜,钟华.强直性脊柱炎患者外周血TNF-α、IL-17、IL-23的表达[J].现代诊断与治疗,2016,27(18):3340-3342.
[31] JIAO Y L,MA C Y,WANG L C,et al.Polymorphisms of KIRs gene and HLA-C alleles in patients with ankylosing spondylitis:Possible association with susceptibility to the disease[J].J Clin Immunol,2008,28(4):343-349.
[32] DíAZ-PE?A R,VIDAL-CASTIEIRA R J,ALONSO-ARIAS R,et al.Association of the KIR3DS1*013 and KIR3DL1*004 alleles with susceptibility to ankylosing spondylitis[J].Arthritis Rheum,2010,62(4):1000-1006.
[33] Australo-Anglo-American Spondyloarthritis Consortium,REVEILLE J D,SIMS A M,et al.Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci[J].Nat Genet,2010,42(2):123-127.