PTPN22基因多态性与张家口地区汉族人群桥本甲状腺炎的相关性研究

PTPN22基因多态性与张家口地区汉族人群桥本甲状腺炎的相关性研究

霍云丽,常永峰,杨敬芳,贾慧宇

河北北方学院附属第二医院检验科,河北北方学院附属第二医院检验科,河北北方学院附属第二医院检验科,河北北方学院附属第二医院检验科

收稿日期:2017-12-27 修回日期:2017-12-27 出版日期:2017-12-25
基金资助:
河北省张家口市科技攻关计划项目(项目编号：1321036D；项目名称：细胞毒性T淋巴细胞相关抗原-4、人转化生长因子β1基因多态性与张家口地区汉族人桥本甲状腺炎的相关性)

Association between PTPN22 Gene Polymorphism and Hashimoto′s Thyroiditis in Zhangjiakou Han Population

Huo Yunli,Chang Yongfeng,Yang Jingfang and Jia Huiyu

Department of clinical laboratory,Second Affiliated Hospital of Hebei North University,Department of clinical laboratory,Second Affiliated Hospital of Hebei North University,Department of clinical laboratory,Second Affiliated Hospital of Hebei North University,Department of clinical laboratory,Second Affiliated Hospital of Hebei North University

Received:2017-12-27 Revised:2017-12-27 Online:2017-12-25

摘要/Abstract

摘要： 目的：分析蛋白酪氨酸磷酸酶非受体型22（PTPN22）基因-1123G>C位点（rs2488457）多态性与桥本甲状腺炎(HT)易感性的相关性。方法：选取2014~2015年张家口地区HT患者（病例组）和健康体检者（对照组）各200例，提取外周血DNA后进行PCR测序，检测rs2488457基因型，计算其基因型频率和等位基因频率。结果： rs2488457基因型分布频率与Hardy Weinberg遗传平衡定律一致，各基因型和等位基因分布频率在病例组与对照组差异有统计学意义（P＜0.05）。PTPN22 基因-1123G>C位点C/G、C/C基因型可显著提高HT的风险，携带G/G基因型可能降低HT风险。结论：rs2488457多态性与HT易感性相关。携带C/G、C/C基因型可能是HT发生的危险因素，携带G/G基因型可能是HT发生的保护因素。

Abstract: Objective：To analyze the relationship between the gene polymorphism of -1123G>C loci (rs2488457) and the susceptibility of Hashimoto′s thyroiditis (HT). Methods： 200 cases of HT patients（the case group） and 200 cases of healthy subjects（the control group） were selected from Zhangjiakou area in 2014~2015. DNA was extracted and detected by PCR sequencing. The genotype frequency and allele frequency of rs2488457 gene were calculated. Results： The frequency of rs2488457 genotype was in accordance with Hardy-Weinberg law of genetic equilibrium. There was a significant difference in the frequencies of genotype and allele between the case group and the control group (P<0.05). The C/G and C/C genotype could significantly increase the risk of HT， and the G/G genotype could reduce the risk of HT. Conclusion： rs2488457 polymorphism is associated with susceptibility to HT. Carrying the C/G and C/C genotype was the protective factors of HT.

霍云丽,常永峰,杨敬芳,贾慧宇. PTPN22基因多态性与张家口地区汉族人群桥本甲状腺炎的相关性研究[J]. .

Huo Yunli,Chang Yongfeng,Yang Jingfang and Jia Huiyu. Association between PTPN22 Gene Polymorphism and Hashimoto′s Thyroiditis in Zhangjiakou Han Population[J]. .

参考文献

参考文献
[1]潘若望,张恩勇,梅文杰,等.PTPN22基因启动子-1123G＞C多态性与温州地区桥本甲状腺炎的相关性研究[J].中国卫生检验杂志,2012,02:240-241+246.
[2]唐清丽，薛元明．桥本氏甲状腺炎相关基因的研究进展[J]．药品评价，2013（15）：42-46．
[3]梁军，邹彩艳，赵家军．HLA、CTLA-4、PTPN22基因在自身免疫性甲状腺病遗传易感性中的作用[J]．新医学，2009，40（3）：194-195, 封3．
[4]Nowakowska DJ, Kissler S. Ptpn22 modifies regulatory T cell homeostasis via GITR upregulation[J]. J Immunol, 2016, 196(5): 2145-2152.
[5]胡必成，崔天盆，吴健民．PTPN22基因的变异(R620W)与湖北汉族人群SLE的易感性关系[J]．华中医学杂志，2008，32（1）：12-14．
[6]Huang JJ, Qiu YR, Li HX, et al. A PTPN22 promoter polymorphism -1123G>C is associated with RA pathogenesis in Chinese[J]. Rheumatol Int, 2012, 32(3): 767-771.
[7]郑瑞芝，张素华，李蓉，等．重庆地区汉族人PTPN22基因多态性与Graves病的关联研究[J]．重庆医科大学学报，2008，33（1）：22-24, 28．
[8]Raslan HM, Attia HR, Salama I, et al. Association of PTPN22 1858C→T polymorphism, HLA-DRB1 shared epitope and autoantibodies with rheumatoid arthritis[J]. Rheumatol Int, 2016, 36(8): 1167-1175.
[9]李凯．COMT，PTPN22基因多态性与白癜风发病的相关性研究[D]．西安：第四军医大学，2007．
[10]Ferjeni Z, Bouzid D, Fourati H, et al. Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 diabetes risk in Tunisian population: family based association study[J]. Immunol Lett, 2015, 163(1): 1-7.
[11]Rodríguez A, Alfaro JM, Balthazar V, et al. Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families[J]. J Diabetes, 2015, 7(3): 402-410.
[12]Pei Z, Chen X, Sun C, et al. A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene(PTPN22)is associated with Type1 diabetes in a Chinese population[J]. Diabetic Medicine, 2014, 31(2): 219–226.
[13]Ichimura M, Kaku H, Fukutani T, et al. Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves'' disease in a Japanese population[J]. Thyroid, 2008, 18(6): 625-630.
[14]叶娟，任安．PTPN22基因多态性与安徽汉族人群Graves病的关系[J]．中国现代医学杂志，2015，25（7）：44-46．
[15]叶娟．PTPN22基因多态性与Graves病[J]．国际病理科学与临床杂志，2013，33（6）：548-552．
[16]
[17]
[18]
[19]
[20]

快速检索引用检索图表检索高级检索