The-1123G > C Variant of PTPN22 Gene Promoter is Associated with Latent Autoimmune Diabetes in Adult Chinese Hans

Department of Endocrinology and Metabolism, Shanghai Jiaotong University, Affiliated Sixth People's Hospital, Shanghai Clinical Center of Diabetes, Shanghai Institute for Diabetes, Shanghai 200233, China.
Cell biochemistry and biophysics (Impact Factor: 1.68). 09/2011; 62(2):273-9. DOI: 10.1007/s12013-011-9291-4
Source: PubMed


The protein tyrosine phosphatase non-receptor 22 (PTPN22) gene encodes for lymphoid protein tyrosine phosphatase. Recent studies demonstrated the association between the +1858T, -1123G>C variants of PTPN22 gene and type 1 diabetes mellitus in Caucasian and Japanese populations. This study examined the relationship between the polymorphism of PTPN22 gene and latent autoimmune 1 diabetes in adults (LADA) in Chinese Hans. We studied 229 adult Chinese patients with LADA (LADA group) and 210 healthy volunteers (control group). The -1123G>C and +1858C>T polymorphisms of PTPN22 gene were determined by PCR-restriction fragment length polymorphism method. Further, genotypic/allelic frequencies and clinical characteristics were compared between two groups. There was a significant difference of frequencies of the -1123G>C polymorphism between LADA and control groups (OR = 1.99, 95% CI = 1.24-3.2; P = 0.001). However, no significant differences in the +1858C>T genotypic (CC, CT) and allelic (C, T) frequencies were found. Furthermore, the frequencies of the -1123 GC, CC genotype in male patients with LADA were significantly higher compared with male healthy volunteers (OR = 1.65, 95% CI = 1.21-2.26; P = 0.005). The analysis of covariance demonstrated no difference between glycosylated hemoglobin, body mass index, duration of diabetes, C-peptide, and GAD-Ab titer between the group carrying GC/CC and the group without allele C. In conclusion, the -1123G>C promoter polymorphism of PTPN22 gene, but not the +1858C>T variant, is associated with LADA in adult Chinese Hans.

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    • ", showed allele frequencies more than 5% and, more specifically the − 1123G > C SNP, localized in the promoter region, was associated with the onset of acute T1D in Japanese and Korean subjects, but not with slow-onset of T1D [75]. In a recent study the 1123G > C SNP, but not C1858T SNP, has been associated with latent autoimmune diabetes in Chinese patients [108] "
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