Association between PTPN22 C185ST and type 1 diabetes: a replication in continental Italy

作者：Saccucci P; Del Duca E; Rapini N; Verrotti A; Piccinini S; Maccari A; Canu G; Angelini F; Fontana L; Giannini C; Chiarelli F; Bitti M L Manca; Bottini N^*

来源：Tissue Antigens, 2008, 71(3): 234-237.

DOI：10.1111/j.1399-0039.2007.00987.x

• autoimmunity
• C1858T
• genetics
• Italian
• LYP
• polymorphism
• PTPN22
• replication
• type 1 diabetes

The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (TID) 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 TID in populations from continental Italy, carried out in two independent samples of TID patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that TID carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.

• 出版日期2008-3
• 单位河北医科大学