A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene (PTPN22) is associated with Type 1 diabetes in a Chinese population. Issue 2 (21st October 2013)

• Record Type: Journal Article
• Authors: Pei, Z.; Chen, X.; Sun, C.; Du, H.; Wei, H.; Song, W.; Yang, Y.; Zhang, M.; Lu, W.; Cheng, R.; Luo, F.
• Is Part Of: Diabetic medicine. Volume 31:Issue 2(2014:Feb.)
• Page Start: 219
• Page End: 226
• Publication Date: 2013-10-21
• Subjects: Diabetes -- Periodicals; 616.462
• DOI: 10.1111/dme.12331
• Languages: English
• ISSNs: 0742-3071

Abstract

<abstract abstract-type="main" id="dme12331-abs-0001"> <title>Abstract</title> <sec id="dme12331-sec-0001" sec-type="section"> <title>Aims</title> <p>To examine single nucleotide polymorphisms in the protein tyrosine phosphatase N22 gene (<italic>PTPN22</italic>) and to study their association with Type 1 diabetes in a Chinese cohort.</p> </sec> <sec id="dme12331-sec-0002" sec-type="section"> <title>Methods</title> <p>Three hundred and sixty‐four young patients with Type 1 diabetes and 719 healthy children were included in this case‐controlled study. The genotypes of rs1217385, rs2488457 (–1123C>G), rs1217414, rs1217419, rs3765598 and rs2476601 (1858C>T) in the <italic>PTPN22</italic> gene were determined using the SNaPshot method. Alleles, genotypes and haplotype frequencies were compared between patients with Type 1 diabetes and healthy control subjects. The association between single nucleotide polymorphisms and clinical traits/autoantibody status was also analysed.</p> </sec> <sec id="dme12331-sec-0003" sec-type="section"> <title>Results</title> <p>The single nucleotide polymorphism, rs1217419, located in the second intron of the <italic>PTPN22</italic> gene was associated with Type 1 diabetes (odds ratio 1.5, 95% CI 1.14–1.97, <italic>P</italic> = 0.003). An additional single nucleotide polymorphism, rs1217385, was also associated with Type 1 diabetes; however, the association was secondary to that of rs1217419. The previously reported single nucleotide polymorphism that is associated with Type 1 diabetes (–1123G>C) had only marginal association with Type 1 diabetes in our study. A marginal association was also identified between –1123G>C and glutamic acid decarboxylase autoantibody positivity in patients with Type 1 diabetes. There was no association between the single nucleotide polymorphism 1858C>T and Type 1 diabetes in our studied cohort.</p> </sec> <sec id="dme12331-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Our study confirmed that <italic>PTPN22</italic> is a gene that contributes to Type 1 diabetes susceptibility. The primary association occurs with single nucleotide polymorphism rs1217419 and there is clear heterogeneity of the association between <italic>PTPTN22</italic> polymorphisms and Type 1 diabetes in a Chinese population compared with other populations.</p> </sec> </abstract>