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

Cell Biochemistry and Biophysics

Volumn 62, Issue 2, 2012, Pages 273-279

  Liu, Fang ^a   Liu, Jiang ^a   Zheng, Tai shan ^a   Li, Qing ^a   Wang, Chen ^a   Pan, Xiao ping ^a   Lu, Huijuan ^a   Zhao, Yu wu ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Autoantibody; Gene promoter; Latent autoimmune diabetes in adults; Polymorphism; Protein tyrosine phosphatase non receptor 22

Indexed keywords

C PEPTIDE; HEMOGLOBIN VARIANT; HEMOGLOBIN, GLYCERATED; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PTPN22 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ARTICLE; ASIAN; BODY MASS; CHINA; EXON; FEMALE; GENE FREQUENCY; GENETICS; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MALE; METABOLISM; MIDDLE AGED; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BODY MASS INDEX; C-PEPTIDE; CHINA; DIABETES MELLITUS, TYPE 1; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22;

EID: 84857646222     PISSN: 10859195     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12013-011-9291-4     Document Type: Article

References (23)

1. Knip, M., & Siljander, H. (2008). Autoimmune mechanisms in type 1 diabetes. Autoimmunity Reviews, 7, 550-557.
2. Liu, Y., Wenzlau, J. M., Yu, L., Patel, C., Eisenbarth, G. S., Hutton, J. C., et al. (2008). Conserved epitopes in the protein tyrosine phosphatase family of diabetes autoantigens. Annals of the New York Academy of Sciences, 1150, 245-247.
3. Gregersen, P. K. (2005). Gaining insight into PTPN22 and autoimmunity. Nature Genetics, 37, 1300-1302.
4. Hinks, A., Barton, A., John, S., Bruce, I., Hawkins, C., Griffiths, C. E., et al. (2005). Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. Arthritis and Rheumatism, 52, 1694-1699.
5. Dieude, P., Teixeira, V. H., Pierlot, C., Cornelis, F., & Petit-Teixeira, E. (2008). Testing for linkage and association with rheumatoid arthritis a ptpn22 promoter polymorphism reported to be associated and linked with type 1 diabetes in the Caucasian population. Annals of the Rheumatic Diseases, 67, 900-901.
6. Dultz, G., Matheis, N., Dittmar, M., Rohrig, B., Bender, K., & Kahaly, G. J. (2009). The protein tyrosine phosphatase non-receptor type 22 C1858T polymorphism is a joint susceptibility locus for immunthyroiditis and autoimmune diabetes. Thyroid, 19, 143-148.
7. Bottini, N., Vang, T., Cucca, F., & Mustelin, T. (2006). Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Seminars in Immunology, 18, 207-213.
8. Zheng, W., & She, J. X. (2005). Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes, 54, 906-908.
9. Onengut-Gumuscu, S., Ewens, K. G., Spielman, R. S., & Concannon, P. (2004). A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes and Immunity, 5, 678-680.
10. Chelala, C., Duchatelet, S., Joffret, M. L., Bergholdt, R., Dubois-Laforgue, D., Ghandil, P., et al. (2007). PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. Diabetes, 56, 522-526.
11. Zoledziewska, M., Perra, C., Orru, V., Moi, L., Frongia, P., Congia, M., et al. (2008). Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes. Diabetes, 57, 229-234.
12. Hermann, R., Lipponen, K., Kiviniemi, M., Kakko, T., Veijola, R., Simell, O., et al. (2006). Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes. Diabetologia, 49, 1198-1208.
13. Santiago, J. L., Martinez, A., de la Calle, H., Fernandez-Arquero, M., Figueredo, M. A., de la Concha, E. G., et al. (2007). Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population. BMC Medical Genetics, 8, 54.
14. Douroudis, K., Prans, E., Haller, K., Nemvalts, V., Rajasalu, T., Tillmann, V., et al. (2008). Protein tyrosine phosphatase non-receptor type 22 gene variants at position 1858 are associated with type 1 and type 2 diabetes in Estonian population. Tissue Antigens, 72, 425-430.
15. Saccucci, P., Del, D. E., Rapini, N., Verrotti, A., Piccinini, S., Maccari, A., et al. (2008). Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy. Tissue Antigens, 71, 234-237.
16. Cinek, O., Hradsky, O., Ahmedov, G., Slavcev, A., Kolouskova, S., Kulich, M., et al. (2007). No independent role of the -1123G>C and +2740A> G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. Diabetes Research and Clinical Practice, 76, 297-303.
17. Kawasaki, E., Awata, T., Ikegami, H., Kobayashi, T., Maruyama, T., Nakanishi, K., et al. (2006). Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. American Journal of Medical Genetics, Part A, 140, 586-593.
18. Baniasadi, V., & Das, S. N. (2008). No evidence for association of PTPN22 R620 W functional variant C1858T with type 1 diabetes in Asian Indians. Journal of Cellular and Molecular Medicine, 12, 1061-1062.
19. American Diabetes Association. (2011). Standards of medical care in diabetes-2011. Diabetes Care, 34(Suppl 1), S11-S61.
20. Petrone, A., Spoletini, M., Zampetti, S., Capizzi, M., Zavarella, S., Osborn, J., et al. (2008). The PTPN22 1858T gene variant in type 1 diabetes is associated with reduced residual beta-cell function and worse metabolic control. Diabetes Care, 31, 1214-1218.
21. Nielsen, C., Hansen, D., Husby, S., & Lillevang, S. T. (2007). Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes. International Journal of Immunogenetics, 34, 469-473.
22. Li, X., Yang, L., Zhou, Z., Huang, G., & Yan, X. (2003). Glutamic acid decarboxylase 65 autoantibody levels discriminate two subtypes of latent autoimmune diabetes in adults. Chinese Medical Journal (English Edition), 116, 1728-1732.
23. Petrone, A., Suraci, C., Capizzi, M., Giaccari, A., Bosi, E., Tiberti, C., et al. (2008). The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with high GAD antibody titer in latent autoimmune diabetes in adults: non insulin requiring autoimmune diabetes (NIRAD) Study 3. Diabetes Care, 31, 534-538.