蛋白酪氨酸磷酸酶非受体22（PTPN22）基因C1858T多态性与1型糖尿病的关联：意大利大陆地区的重复验证研究
Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy.
作者信息
Saccucci P, Del Duca E, Rapini N, Verrotti A, Piccinini S, Maccari A, Canu G, Angelini F, Fontana L, Giannini C, Chiarelli F, Manca Bitti M L, Bottini N
机构信息
Department of Internal Medicine, Division of Clinical Immunology, University of Rome Tor Vergata, Rome, Italy.
出版信息
Tissue Antigens. 2008 Mar;71(3):234-7. doi: 10.1111/j.1399-0039.2007.00987.x. Epub 2008 Jan 7.
The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.
错义PTPN22 C1858T多态性最近成为1型糖尿病（T1D）和其他自身免疫性疾病的一个重要的与人群无关的危险因素。PTPN22基因编码淋巴样酪氨酸磷酸酶（LYP），它是通过T细胞受体进行信号转导的负调节因子。尽管该多态性的频率在不同种族群体中有所不同，但PTPN22 *T1858与T1D之间的关联已在多个群体中得到重复验证。在此，我们首次在意大利大陆人群中对PTPN22与T1D之间的关联进行了重复验证，该验证在两个独立的T1D患者样本（分别为N = 216和82）及对照样本（分别为N = 271和89）中进行。我们的数据还表明，*T1858等位基因的T1D携带者可能患其他合并自身免疫性疾病的风险增加。
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