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A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene (PTPN22) is associated with Type 1 diabetes in a Chinese population.
Diabet Med. 2014 Feb; 31(2):219-26.DM

Abstract

AIMS

To examine single nucleotide polymorphisms in the protein tyrosine phosphatase N22 gene (PTPN22) and to study their association with Type 1 diabetes in a Chinese cohort.

METHODS

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 PTPN22 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.

RESULTS

The single nucleotide polymorphism, rs1217419, located in the second intron of the PTPN22 gene was associated with Type 1 diabetes (odds ratio 1.5, 95% CI 1.14-1.97, P = 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.

CONCLUSIONS

Our study confirmed that PTPN22 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 PTPTN22 polymorphisms and Type 1 diabetes in a Chinese population compared with other populations.

Authors+Show Affiliations

Department of Pediatric Endocrinology and Inborn Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24117662

Citation

Pei, Z, et al. "A Novel Single Nucleotide Polymorphism in the Protein Tyrosine Phosphatase N22 Gene (PTPN22) Is Associated With Type 1 Diabetes in a Chinese Population." Diabetic Medicine : a Journal of the British Diabetic Association, vol. 31, no. 2, 2014, pp. 219-26.
Pei Z, Chen X, Sun C, et al. A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene (PTPN22) is associated with Type 1 diabetes in a Chinese population. Diabet Med. 2014;31(2):219-26.
Pei, Z., Chen, X., Sun, C., Du, H., Wei, H., Song, W., Yang, Y., Zhang, M., Lu, W., Cheng, R., & Luo, F. (2014). A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene (PTPN22) is associated with Type 1 diabetes in a Chinese population. Diabetic Medicine : a Journal of the British Diabetic Association, 31(2), 219-26. https://doi.org/10.1111/dme.12331
Pei Z, et al. A Novel Single Nucleotide Polymorphism in the Protein Tyrosine Phosphatase N22 Gene (PTPN22) Is Associated With Type 1 Diabetes in a Chinese Population. Diabet Med. 2014;31(2):219-26. PubMed PMID: 24117662.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene (PTPN22) is associated with Type 1 diabetes in a Chinese population. AU - Pei,Z, AU - Chen,X, AU - Sun,C, AU - Du,H, AU - Wei,H, AU - Song,W, AU - Yang,Y, AU - Zhang,M, AU - Lu,W, AU - Cheng,R, AU - Luo,F, Y1 - 2013/10/21/ PY - 2013/05/07/received PY - 2013/08/09/revised PY - 2013/09/19/accepted PY - 2013/10/15/entrez PY - 2013/10/15/pubmed PY - 2015/4/17/medline SP - 219 EP - 26 JF - Diabetic medicine : a journal of the British Diabetic Association JO - Diabet. Med. VL - 31 IS - 2 N2 - AIMS: To examine single nucleotide polymorphisms in the protein tyrosine phosphatase N22 gene (PTPN22) and to study their association with Type 1 diabetes in a Chinese cohort. METHODS: 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 PTPN22 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. RESULTS: The single nucleotide polymorphism, rs1217419, located in the second intron of the PTPN22 gene was associated with Type 1 diabetes (odds ratio 1.5, 95% CI 1.14-1.97, P = 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. CONCLUSIONS: Our study confirmed that PTPN22 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 PTPTN22 polymorphisms and Type 1 diabetes in a Chinese population compared with other populations. SN - 1464-5491 UR - https://www.unboundmedicine.com/medline/citation/24117662/A_novel_single_nucleotide_polymorphism_in_the_protein_tyrosine_phosphatase_N22_gene__PTPN22__is_associated_with_Type_1_diabetes_in_a_Chinese_population_ L2 - https://doi.org/10.1111/dme.12331 DB - PRIME DP - Unbound Medicine ER -