中国人群HLA-B*27基因亚型与强直性脊柱炎的相关性研究
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摘要
在全球范围内,强直性脊柱炎(AS)在不同地区的分布有明显差别。AS与HLA-B*27基因多态性密切相关,HLA-B*27基因不同亚型对AS的发病作用机制可能不同。目前已发现至少105种HLA-B*27基因亚型,分为"致病"亚型、"保护"亚型和不确定亚型。中国不同地区和种族的HLA-B*27基因亚型分布有一定差异,不同地区的HLA-B*27基因亚型与AS的关系也不完全相同。因此,临床上早期诊断AS时,应考虑本地区的亚型分布特点和规律,进行相应的亚型检测。现总结中国人群HLA-B*27基因亚型与AS的关系,探讨HLA-B*27基因亚型检测用于早期诊断AS的必要性及下一步研究方向。
Globally, the distribution of AS is various in different regions. AS is strong closely related to the polymorphisms of HLA-B*27 gene. Different subtypes of HLA-B*27 gene may play different roles in the pathogenesis of AS. So far, at least 105 types of HLA-B*27 subtypes have been identified, which are classified as "pathogenic" subtypes, "protected" subtypes and uncertain subtypes. There are some differences between different regions and ethnic HLA-B*27 genotypes in Chinese population. The relationship between HLA-B*27 subtypes and AS is not quite the same. Clinically, in the early diagnosis of AS, the subtype distribution characteristics of the region should be considered, and the genotyping should be carried out. This paper aims at summarizing the relationship between the HLA-B*27 genotype of Chinese population and AS, and discusses the necessity of the HLA-B*27 genotyping for early diagnosis of AS and focus on further research direction.
Globally, the distribution of AS is various in different regions. AS is strong closely related to the polymorphisms of HLA-B*27 gene. Different subtypes of HLA-B*27 gene may play different roles in the pathogenesis of AS. So far, at least 105 types of HLA-B*27 subtypes have been identified, which are classified as "pathogenic" subtypes, "protected" subtypes and uncertain subtypes. There are some differences between different regions and ethnic HLA-B*27 genotypes in Chinese population. The relationship between HLA-B*27 subtypes and AS is not quite the same. Clinically, in the early diagnosis of AS, the subtype distribution characteristics of the region should be considered, and the genotyping should be carried out. This paper aims at summarizing the relationship between the HLA-B*27 genotype of Chinese population and AS, and discusses the necessity of the HLA-B*27 genotyping for early diagnosis of AS and focus on further research direction.
引文
[1]Braun J,Sieper J.Ankylosing spondylitis[J].Lancet,2007,369(9570):1379-1390.
[2]Fu J,Wu M,Liang Y,et al.Differences in cardiovascular manifestations between ankylosing spondylitis patients with and without kyphosis[J].Clin Rheumatol,2016,35(8):2003-2008.
[3]Brown MA,Kenna T,Wordsworth BP.Genetics of ankylosing spondylitis--insights into pathogenesis[J].Nat Rev Rheumatol,2016,12(2):81-91.
[4]Mou Y,Wu Z,Gu J,et al.HLA-B27 polymorphism in patients with juvenile and adult-onset ankylosing spondylitis in Southern China[J].Tissue Antigens,2010,75(1):56-60.
[5]王华,甄拴平,党丽君,等.强直性脊柱炎与HLA-B27基因亚型的相关性研究[J].国际检验医学杂志.2016,37(14):1954-1955,1598.
[6]Yang T,Duan Z,Wu S,et al.Association of HLA-B27 genetic polymorphisms with ankylosing spondylitis susceptibility worldwide:a meta-analysis[J].Mod Rheumatol,2014,24(1):150-161.
[7]Ng SC,Liao Z,Yu DT,et al.Epidemiology of spondyloarthritis in the People's Republic of China:review of the literature and commentary[J].Semin Arthritis Rheum,2007,37(1):39-47.
[8]Zhai J,Rong J,Li Q,et al.Immunogenetic study in Chinese population with ankylosing spondylitis:are there specific genes recently disclosed?[J].Clin Deve Immunolo,2013,2013(4):419357.
[9]Diaz-Pena R,Vidal-Castineira JR,Lopez-Vazquez A,et al.HLA-B*40:01 Is Associated with Ankylosing Spondylitis in HLA-B27-positive Populations[J].J Rheumatol,2016,43(6):1255-1256.
[10]Brown MA,Kennedy LG,MacGregor AJ,et al.Susceptibility to ankylosing spondylitis in twins:the role of genes,HLA,and the environment[J].Arthritis Rheum,1997,40(10):1823-1828.
[11]Brown MA,Crane AM,Wordsworth BP.Genetic aspects of susceptibility,severity,and clinical expression in ankylosing spondylitis[J].Curr Opin Rheumatol,2002,14(4):354-360.
[12]Cheng X,Mei Y,Ji X,et al.Molecular mechanism of the susceptibility difference between HLA-B*27:02/04/05 and HLA-B*27:06/09 to ankylosing spondylitis:substitution analysis,MD simulation,QSAR modelling,and in vitro assay[J].SARQSAREnviron Res,2016,27(5):409-425.
[13]Brewerton DA,Hart FD,Nicholls A,et al.Ankylosing spondylitis and HL-A 27[J].Lancet.1973,301(7809):904-907.
[14]Malaviya AP,Ostor AJ.Early diagnosis crucial in ankylosing spondylitis[J].Practitioner,2011,255(1746):21-24.
[15]A.Cauli G,.Dessole MT.Increased level of HLA-B27 expression in ankylosing spondylitis patients compared with healthy HLA-B27-positive subjects a possible further susceptibility factor for the development of disease[J].Rheumatology(Oxford),2002,41(12):1375-1379.
[16]Liu X,Yang B,Li L,et al.Association of HLA-DP/DQ and STAT4polymorphisms with ankylosing spondylitis in Southwest China[J].Int Immunopharmacol,2016(39):10-15.
[17]Dean LE,Jones GT,MacDonald AG,et al.Global prevalence of ankylosing spondylitis[J].Rheumatology(Oxford),2014,53(4):650-657.
[18]Reveille JD.Major histocompatibility genes and ankylosing spondylitis[J].Best Practi Res Clin Rheumatol,2006,20(3):601-609.
[19]Ball EJ,Khan MA.HLA-B27 polymorphism[J].Joint Bone Spine,2001,68(5):378-382.
[20]曾洋,谭诗梦,冯斌,等.PCR-SSP法检测29种HLA-B27基因亚型[J].分子诊断与治疗杂志,2011,3(5):303-305.
[21]汪薇,李志强.HLA-B~*27基因亚型与强直性脊柱炎临床特征的相关性[J].临床输血与检验,2010,12(1):31-35.
[22]Khan MA,Mathieu A,Sorrentino R,et al.The pathogenetic role of HLA-B27 and its subtypes[J].Autoimmun Rev,2007,6(3):183-189.
[23]Díaz-Pe?a R,López-Vázquez A,López-Larrea C..Old and new HLA associations with ankylosing spondylitis[J].Tissue Antigens,2012,80(3):205-213.
[24]徐娜,孙华,单小燕,等.中国北方汉族人群强直性脊柱炎与白细胞抗原B27亚型关联性研究[J].北京医学,2007(4):241-243.
[25]陈志坚,李山.广西壮族强直性脊柱炎患者HLA-B_(27)亚型的研究[J].广西医科大学学报,2007(5):738-739.
[26]陈长荣,张忠英,倪宏英,等.HLA-B~*27基因亚型与强直性脊柱炎的相关性研究[J].中国输血杂志,2007(1):13-14.
[27]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.
[28]Liu X,Hu LH,Li YR,et al.The association of HLA-B*27subtypes with ankylosing spondylitis in Wuhan population of China[J].Rheumatol Int,2010,30(5):587-590.
[29]Hou TY,Chen HC,Chen CH,et al.Usefulness of human leucocyte antigen-B27 subtypes in predicting ankylosing spondylitis:Taiwan experience[J].Intern Med J,2007,37(11):749-752.
[30]范春梅,黄荣富,陈根旺.闽南地区HLA-B27基因亚型与强直性脊柱炎相关性研究[J].中国微生态学杂志,2016,28(3):256-258.
[31]Ma HJ,Hu FP.Diversity of human leukocyte antigen-B27 alleles in Han population of Hunan province,southern China[J].Tissue Antigens,2006,68(2):163-166.
[32]喻霞云,顾国浩,高纯,等.HLA-B27亚型与强直性脊柱炎相关性分析[J].苏州大学学报(医学版),2006(4):605-607,624.
[33]陆君,汪薇,李志强.强直性脊柱炎患者HLA-B~*27基因亚型及序列研究[J].中国输血杂志,2011,24(9):743-745.
[34]Zou HY,Yu WZ,Wang Z,et al.Human leukocyte antigen-B27alleles in Xinjiang Uygur patients with ankylosing spondylitis[J].Genet Mol Res,2015,14(2):5652-5657.
[35]黄波,万小涛,张有辉.强直性脊柱炎患者HLA-B27及基因亚型检测分析[J].检验医学与临床,2016,13(21):3052-3053.
[36]宋永红,李文超,吕红娟,等.山东地区强直性脊柱炎患者HLA-B27基因高分辨分型结果分析[J].现代检验医学杂志,2007(2):66-67.
[37]Fu J,Festen EA,Wijmenga C.Multi-ethnic studies in complex traits[J].Hum Mol Genet,2011,20(R2):R206-213.
[38]van der Linden S,Valkenburg HA,Cats A.Evaluation of diagnostic criteria for ankylosing spondylitis.A proposal for modification of the New York criteria[J].Arthritis Rheum,1984,27(4):361-368.
[39]Cortes A,Pulit SL,Leo PJ,et al.Major histocompatibility complex associations of ankylosing spondylitis are complex and involve HLA-B*27 Genetic Subtypes and Ankylosing further epistasis with ERAP1[J].Nat Commun,2015,21(6):7146.
[40]吕青,林智明,许漫龙.强直性脊柱炎和脊柱关节病的诊断参数、诊断和评价方法摘录[J].新医学,2011,42(3):193-195,202.
[41]Rudwaleit M,Braun J,Sieper J,et al.ASAS classification criteria for axial spondyloarthritis[J].Z Rheumatol,2009,68(7):591-593.
[42]Lin Z,Bei JX,Shen M,et al.A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis[J].Nature Genetics,2011,44(1):178-182.
[2]Fu J,Wu M,Liang Y,et al.Differences in cardiovascular manifestations between ankylosing spondylitis patients with and without kyphosis[J].Clin Rheumatol,2016,35(8):2003-2008.
[3]Brown MA,Kenna T,Wordsworth BP.Genetics of ankylosing spondylitis--insights into pathogenesis[J].Nat Rev Rheumatol,2016,12(2):81-91.
[4]Mou Y,Wu Z,Gu J,et al.HLA-B27 polymorphism in patients with juvenile and adult-onset ankylosing spondylitis in Southern China[J].Tissue Antigens,2010,75(1):56-60.
[5]王华,甄拴平,党丽君,等.强直性脊柱炎与HLA-B27基因亚型的相关性研究[J].国际检验医学杂志.2016,37(14):1954-1955,1598.
[6]Yang T,Duan Z,Wu S,et al.Association of HLA-B27 genetic polymorphisms with ankylosing spondylitis susceptibility worldwide:a meta-analysis[J].Mod Rheumatol,2014,24(1):150-161.
[7]Ng SC,Liao Z,Yu DT,et al.Epidemiology of spondyloarthritis in the People's Republic of China:review of the literature and commentary[J].Semin Arthritis Rheum,2007,37(1):39-47.
[8]Zhai J,Rong J,Li Q,et al.Immunogenetic study in Chinese population with ankylosing spondylitis:are there specific genes recently disclosed?[J].Clin Deve Immunolo,2013,2013(4):419357.
[9]Diaz-Pena R,Vidal-Castineira JR,Lopez-Vazquez A,et al.HLA-B*40:01 Is Associated with Ankylosing Spondylitis in HLA-B27-positive Populations[J].J Rheumatol,2016,43(6):1255-1256.
[10]Brown MA,Kennedy LG,MacGregor AJ,et al.Susceptibility to ankylosing spondylitis in twins:the role of genes,HLA,and the environment[J].Arthritis Rheum,1997,40(10):1823-1828.
[11]Brown MA,Crane AM,Wordsworth BP.Genetic aspects of susceptibility,severity,and clinical expression in ankylosing spondylitis[J].Curr Opin Rheumatol,2002,14(4):354-360.
[12]Cheng X,Mei Y,Ji X,et al.Molecular mechanism of the susceptibility difference between HLA-B*27:02/04/05 and HLA-B*27:06/09 to ankylosing spondylitis:substitution analysis,MD simulation,QSAR modelling,and in vitro assay[J].SARQSAREnviron Res,2016,27(5):409-425.
[13]Brewerton DA,Hart FD,Nicholls A,et al.Ankylosing spondylitis and HL-A 27[J].Lancet.1973,301(7809):904-907.
[14]Malaviya AP,Ostor AJ.Early diagnosis crucial in ankylosing spondylitis[J].Practitioner,2011,255(1746):21-24.
[15]A.Cauli G,.Dessole MT.Increased level of HLA-B27 expression in ankylosing spondylitis patients compared with healthy HLA-B27-positive subjects a possible further susceptibility factor for the development of disease[J].Rheumatology(Oxford),2002,41(12):1375-1379.
[16]Liu X,Yang B,Li L,et al.Association of HLA-DP/DQ and STAT4polymorphisms with ankylosing spondylitis in Southwest China[J].Int Immunopharmacol,2016(39):10-15.
[17]Dean LE,Jones GT,MacDonald AG,et al.Global prevalence of ankylosing spondylitis[J].Rheumatology(Oxford),2014,53(4):650-657.
[18]Reveille JD.Major histocompatibility genes and ankylosing spondylitis[J].Best Practi Res Clin Rheumatol,2006,20(3):601-609.
[19]Ball EJ,Khan MA.HLA-B27 polymorphism[J].Joint Bone Spine,2001,68(5):378-382.
[20]曾洋,谭诗梦,冯斌,等.PCR-SSP法检测29种HLA-B27基因亚型[J].分子诊断与治疗杂志,2011,3(5):303-305.
[21]汪薇,李志强.HLA-B~*27基因亚型与强直性脊柱炎临床特征的相关性[J].临床输血与检验,2010,12(1):31-35.
[22]Khan MA,Mathieu A,Sorrentino R,et al.The pathogenetic role of HLA-B27 and its subtypes[J].Autoimmun Rev,2007,6(3):183-189.
[23]Díaz-Pe?a R,López-Vázquez A,López-Larrea C..Old and new HLA associations with ankylosing spondylitis[J].Tissue Antigens,2012,80(3):205-213.
[24]徐娜,孙华,单小燕,等.中国北方汉族人群强直性脊柱炎与白细胞抗原B27亚型关联性研究[J].北京医学,2007(4):241-243.
[25]陈志坚,李山.广西壮族强直性脊柱炎患者HLA-B_(27)亚型的研究[J].广西医科大学学报,2007(5):738-739.
[26]陈长荣,张忠英,倪宏英,等.HLA-B~*27基因亚型与强直性脊柱炎的相关性研究[J].中国输血杂志,2007(1):13-14.
[27]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.
[28]Liu X,Hu LH,Li YR,et al.The association of HLA-B*27subtypes with ankylosing spondylitis in Wuhan population of China[J].Rheumatol Int,2010,30(5):587-590.
[29]Hou TY,Chen HC,Chen CH,et al.Usefulness of human leucocyte antigen-B27 subtypes in predicting ankylosing spondylitis:Taiwan experience[J].Intern Med J,2007,37(11):749-752.
[30]范春梅,黄荣富,陈根旺.闽南地区HLA-B27基因亚型与强直性脊柱炎相关性研究[J].中国微生态学杂志,2016,28(3):256-258.
[31]Ma HJ,Hu FP.Diversity of human leukocyte antigen-B27 alleles in Han population of Hunan province,southern China[J].Tissue Antigens,2006,68(2):163-166.
[32]喻霞云,顾国浩,高纯,等.HLA-B27亚型与强直性脊柱炎相关性分析[J].苏州大学学报(医学版),2006(4):605-607,624.
[33]陆君,汪薇,李志强.强直性脊柱炎患者HLA-B~*27基因亚型及序列研究[J].中国输血杂志,2011,24(9):743-745.
[34]Zou HY,Yu WZ,Wang Z,et al.Human leukocyte antigen-B27alleles in Xinjiang Uygur patients with ankylosing spondylitis[J].Genet Mol Res,2015,14(2):5652-5657.
[35]黄波,万小涛,张有辉.强直性脊柱炎患者HLA-B27及基因亚型检测分析[J].检验医学与临床,2016,13(21):3052-3053.
[36]宋永红,李文超,吕红娟,等.山东地区强直性脊柱炎患者HLA-B27基因高分辨分型结果分析[J].现代检验医学杂志,2007(2):66-67.
[37]Fu J,Festen EA,Wijmenga C.Multi-ethnic studies in complex traits[J].Hum Mol Genet,2011,20(R2):R206-213.
[38]van der Linden S,Valkenburg HA,Cats A.Evaluation of diagnostic criteria for ankylosing spondylitis.A proposal for modification of the New York criteria[J].Arthritis Rheum,1984,27(4):361-368.
[39]Cortes A,Pulit SL,Leo PJ,et al.Major histocompatibility complex associations of ankylosing spondylitis are complex and involve HLA-B*27 Genetic Subtypes and Ankylosing further epistasis with ERAP1[J].Nat Commun,2015,21(6):7146.
[40]吕青,林智明,许漫龙.强直性脊柱炎和脊柱关节病的诊断参数、诊断和评价方法摘录[J].新医学,2011,42(3):193-195,202.
[41]Rudwaleit M,Braun J,Sieper J,et al.ASAS classification criteria for axial spondyloarthritis[J].Z Rheumatol,2009,68(7):591-593.
[42]Lin Z,Bei JX,Shen M,et al.A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis[J].Nature Genetics,2011,44(1):178-182.