title: The -1123G>C variant of PTPN22 gene promoter is associated with latent autoimmune diabetes in adult Chinese Hans.
abstract: 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.
authors.affiliation: 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.
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Jiang
authors.initials: J
authors.lastname: Liu
authors.forename: Tai-shan
authors.initials: TS
authors.lastname: Zheng
authors.forename: Qing
authors.initials: Q
authors.lastname: Li
authors.forename: Chen
authors.initials: C
authors.lastname: Wang
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Pan
authors.forename: Huijuan
authors.initials: H
authors.lastname: Lu
authors.forename: Yu-wu
authors.initials: YW
authors.lastname: Zhao
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D002096:C-Peptide / Q000032:analysis; D002681:China; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics* / Q000378:metabolism
chemical_list: D002096:C-Peptide; D006455:Hemoglobins, Abnormal; C048900:hemoglobin, glycerated; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22