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类风湿及红斑狼疮与PTPN22基因多态性关系 被引量：3

Association of 1858C/T gene polymorphisms of protein tyrosine phosphatase-22 with rheumatoid arthitis and systemic lupus erythematosus
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摘要 目的探讨蛋白酪氨酸磷酸酶N22(Prote in Tyrosine Phosphatase-22,PTPN22)基因1858C/T多态性与贵州省汉族人群类风湿性关节炎(RA)及系统性红斑狼疮(SLE)的相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,分析110例RA患者及98例SLE患者与120例正常对照组的PTPN22基因1858C/T多态性。结果RA组、SLE组及正常对照组的PTPN22 1858C/T基因型均为CC型,1858C等位基因频率均为100%,未发现PTPN22基因1858C/T多态性。结论PTPN22基因1858C/T多态性与贵州省汉族人群RA及SLE无关。 Objective To probe the association of 1858C/T gene polymorphisms of protein tyrosine phosphatase-22（PTPN22） with rheumatoid arthitis（RA） and systemic lupus erythematosus（SLE） in Han population in Guizhou province.Methods The 1858C/T gene polymorphism was analyzed with polymerase chain reaction restriction fragment lengh polymorphism（PCR-RFLP） in 110 patients with RA,98 patients with SLE and 120 healthy controls.Results The genotype of PTPN22 1858C/T in RA,SLE and healthy controls were CC type,and the ＋1858C allele distribution was 100%.PTPN22 1858C/T polymorphism was not found in RA patients,SLE patients and the controls.Conclusion The 1858C/T gene polymorphism of PTPN22 was not associated with RA and SLE in Han population in Guizhou province.
作者 王豫萍 周艳 费樱
机构地区 贵阳医学院检验系临床微免教研室
出处 《中国公共卫生》 CAS CSCD 北大核心 2009年第12期1535-1536,共2页 Chinese Journal of Public Health
基金 贵州省贵阳市科学技术局资助项目
关键词 蛋白酪氨酸磷酸酶N22(PTPN22) 类风湿性关节炎(RA) 系统性红斑狼疮(SLE) 基因多态性 protein tyrosine phosphatase-22 rheumatoid arthritis systemic lupus erythematosus gene polymorphism
分类号 R392 [医药卫生—免疫学]
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参考文献9

  • 1Oliver JE, Worthington J, Silman AJ. Genetic epidemiology of rheumatoid arthritis[ J ]. Curr Opin Rheumatol,2006,18 (2) : 141 -146.
  • 2Begovich AB, Carlton VE, Honigberg LA, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis[J]. Am J Hum Genet,2004,75 (2) : 330 -337.
  • 3Kyogoku C, Langcfeld CD, Ortmann WA, et al. Genetic association of the R620W polymorphism of protein tyrosinc phosphatase PTPN22 with human SLE[ J]. Am J Hum Genet,2004,75 (3) : 504 - 507.
  • 4Pierer M, Kaltenhauser S, Arnold S, et al. Association of PTPN22 1858 single-nuclcotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patients [ J ]. Arthritis Res Ther, 2006,8 ( 3 ) : R75.
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  • 8Velaga MR, Wilson V, Jennings CE, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphstase(LYP) gene is a major determinant of Graves'disease[ J]. The Journal of Clinical Endocrinology Metabolism ,2004,89( 11 ) :5862 - 5865.
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同被引文献79

  • 1冯雪,李永哲.PTPN22单核苷酸多态性在自身免疫性疾病中的研究进展[J].现代免疫学,2008,28(1):79-82. 被引量：3
  • 2张志红,张学龙,陈峰,白静,傅松滨.类风湿性关节炎相关基因PTPN22 C1858T在中国6个民族中的遗传多态性研究[J].国际遗传学杂志,2007,30(2):81-84. 被引量：7
  • 3Bottini N,Musumeci L,Alonso A,et al.A functional variantof lymphoid tyrosine phosphatase is associated with type Idiabetes[J].Nat Genet,2004,36:337-338.
  • 4Ladner MB,Bottini N,Valdes AM,et al.Association of thesingle nucleotide polymorphism C1858T of the PTPN22gene with type 1 diabetes[J].Hum Immunol,2005,66:60-64.
  • 5Begovich AB,Carlton VE,Honigberg LA,et al.A missensesingle-nucleotide polymorphism in a gene encoding a pro-tein tyrosine phosphatase(PTPN22)is associated withrheumatoid arthritis[J].Am J Hum Genet,2004,75:330-337.
  • 6Hinks A,Barton A,John S,et al.Association between thePTPN22 gene and rheumatoid arthritis and juvenile idio-pathic arthritis in a UK population:further support thatPTPN22 is an autoimmunity gene[J].Arthritis Rheum,2005,52:1694-1699.
  • 7Kyogoku C,Langefeld CD,Ortmann WA,et al.Genetic associ-ation of the R620W polymorphism of protein tyrosine phos-phatase PTPN22 with human SLE[J].Am J Hum Genet2004,75:504-507.
  • 8Velaga MR,Wilson V,Jennings CE,et al.The codon 620tryptophan allele of the lymphoid tyrosine phosphatase(LYP)gene is a major determinant of Graves'disease[J].JClin Endocrinol Metab,2004,89:5862-5865.
  • 9Canton I,Akhtar S,Gavalas NG,et al.A single-nucleotidepolymorphism in the gene encoding lymphoid protein tyro-sine phosphatase(PTPN22)confers susceptibility to gener-alised vitiligo[J].Genes Immun,2005,6:584-587.
  • 10Cao Y,Yang J,Preston GA,et al.Expression of the PTPN22gain-of-function variant results in ERK inhibition leadingto down-regulation of IL-10 expression in leukocytes ofpatients with ANCA disease[J].Kidney Int,2011,In-revised.

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中国公共卫生
2009年 第12期

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