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PTPN22 G788A和A10281188G与广东地区人群RA易感性的关系研究

PTPN22-G788A and A10281188G are not Associated with RA of Chinese People in Guangdong Area
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摘要 目的探讨蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因多态性(rs33996649/G788A/R263Q和rs1310182/A10281188G)与广东地区汉族人群类风湿性关节炎(RA)易感性间的关系。方法选取广东地区人群中218例RA患者以及229例健康对照者进行病例对照研究,采用PCR-RFLP技术检测PTPN22G788A和A10281188G两个多态性位点的基因型,计算比较两组基因型和等位基因频率。结果 RA患者和健康对照者PTPN22在788位点均为G等位基因,未检测到A等位基因,没有发现单核苷酸多态性的存在;10281188位点G等位基因在病例组和对照组中的频率分别为12.4%和13.3%(P>0.05)。结论广东地区人群PTPN22788位点不存在多态性,G788A和A10281188G基因位点与广东汉族人群RA的发病无相关性。 Objective To investigate the correlation between the gene polymorphism of PTPN22-（rs33996649 / G788A / R263Q） and （rs1310182 / A10281188G） and rheumatoid arthritis （RA） in the Chinese population in Guangdong area. Methods 218 RA patients and 229 healthy subjects were enrolled in this case-control study. Genotyping of the PTPN22 SNPs was performed using polymerase chain reaction-based restriction fragment length polymorphism method. The comparisons of genotype and allele frequencies were made. Results The G allele was not detected in all samples and A allele did the contrast in site 788. No SNP was detected. The distribution of G alle in site A10281188G between case and control are 12.4% and 13.3% ,respectively （P0.05）. Conclusion Genetic polymorphism at the site 788 was not detected in the population living in the Guangdong area. The presence of G788A and A10281188G was not associated with the occurrence of RA.
作者 黄建军 裘宇容 孙德华 李娟
机构地区 南方医科大学南方医院检验科 南方医科大学南方医院中医科
出处 《热带医学杂志》 CAS 2010年第5期509-512,共4页 Journal of Tropical Medicine
基金 广东省自然科学基金(No.8151051501000089)
关键词 PTPN22 类风湿性关节炎 基因多态性 PTPN22 rheumatoid arthritis gene polymorphism
分类号 R593.22 [医药卫生—内科学]
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参考文献24

  • 1Carlton VE, Hu X, Chokkalingam AP, et al. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis [J]. Am J Hum Genet, 2005,77 (4) : 567-581.
  • 2Orra V, Tsai SJ, Rueda B, et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus [J]. Hum Mol Genet, 2009,18(3) :569-579.
  • 3Skinningsrud B, Husebye ES, Gervin K, et al. Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease [J]. Eur J Hum Genet, 2008,16(8) :977- 982.
  • 4Lamsyah H, Rueda B, Baassi L, et al. Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population [J]. Tissue Antigens, 2009,74 ( 3 ) : 228-232.
  • 5Jun KR, Choi SE, Cha CH, et al. Meta-analysis of the association between HLA-DRB1 allele and rheumatoid arthritis susceptibility in Asian populations [J]. J Korean Med Sci, 2007,22 ( 6 ) : 973-980.
  • 6Silman A J, Pearson JE. Epidemiology and genetics of rheumatoid arthritis [J]. Arthritis Res, 2002,4 Suppl 3: S265-272.
  • 7Mori M, Yamada R, Kobayashi K, et al. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs [ J ]. J Hum Genet, 2005,50 (5) : 264-266.
  • 8Hu X, Chang M, Saiki RK, et al. The functional 169T3C single-nucleotide polymorphism in FCRL3 is not associated with rheumatoid arthritis in white North Americans [J]. Arthritis Rheum, 2006,54 : 1022-1024.
  • 9Lee YH, Rho YH, Choi SJ, et al. PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis [J]. Rheumatol Int, 2007,27 : 827-833.
  • 10Begovich 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 : 330-337.

二级参考文献28

  • 1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
  • 2MacGregor AJ, Snieder H, Rigby AS, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins [ J ]. Arthritis Rheum, 2000,43 : 30-37.
  • 3Lee YH, Rho YH', Choi SJ, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases a meta- analysis [J]. Rheumatology(Oxford), 2007,46(1):49-56.
  • 4Bottini N, Musumeci L, Alonso A, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes [J]. J Nat Genet, 2004,36:337-338.
  • 5Dieud6 P, Gamier S, Michou L, et al. Rheumatoid arthritis seropositive for the rheumatoid factor is linked to the protein tyrosine phosphatase nonreceptor 22-620W allele [J]. Arthritis Res Ther, 2005,7 ( 6 ) : R 1200-1207.
  • 6Johansson M, Arlestig L, Hallmans G, et al. PTPN22 polymorphism and anti-cyclic citrullinated peptide antibodies in combination strongly predicts future onset of rheumatoid arthritis and has a specificity of 100% for the disease [J]. Arthritis Res Ther, 2006,8 ( 1 ) : R19.
  • 7Begovich 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 : 330-337.
  • 8Steer S, Lad B, Grumley JA, et al. Association of 11602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effect [J]. Arthritis Rheum, 2005,52 : 358-360.
  • 9Plenge RM, Padyukov L, Remmers EF, et al. Replication of putative candidate-gene associations with rheumatoid arthritis in > 4 000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4 [J]. Am J Hum Genet, 2005,77(6): 1044-1060.
  • 10Harrison P, Pointon JJ, Farrar C, et al. Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients [J]. Rheumatology (Oxford), 2006,45 (8) : 1009- 1011.

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2010年 第5期

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