PTPN22 Single-Nucleotide Polymorphisms in Iranian Patients with Type 1 Diabetes Mellitus

被引：13

作者：

Abbasi, Farzaneh ^{[1
]}

Soltani, Samaneh ^{[2
]}

Saghazadeh, Amene ^{[2
]}

Soltaninejad, Ehsan ^{[3
]}

Rezaei, Arezou ^{[4
]}

Bidoki, Alireza Zare ^{[2
]}

Bahrami, Tayyeb ^{[3
]}

Amirzargar, Ali Akbar ^{[2
,5
]}

Rezaei, Nima ^{[4
,5
,6
]}

机构：

[1] Univ Tehran Med Sci, Growth & Dev Res Ctr, Childrens Med Ctr, Tehran, Iran

[2] Univ Tehran Med Sci, Mol Immunol Res Ctr, Childrens Med Ctr, Tehran, Iran

[3] Univ Tehran Med Sci, Sch Med, Dept Genet, Tehran, Iran

[4] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran

[5] Univ Tehran Med Sci, Dept Immunol, Sch Med, Tehran, Iran

[6] USERN, NIIMA, Tehran, Iran

来源：

IMMUNOLOGICAL INVESTIGATIONS | 2017年 / 46卷 / 04期

关键词：

PTPN22; single-nucleotide polymorphisms; type; 1; diabetes; TYROSINE-PHOSPHATASE PTPN22; JUVENILE IDIOPATHIC ARTHRITIS; GENOME-WIDE ASSOCIATION; R620W POLYMORPHISM; RHEUMATOID-ARTHRITIS; GENE POLYMORPHISM; N22; GENE; T-CELLS; DISEASE; AUTOIMMUNITY;

D O I：

10.1080/08820139.2017.1288239

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Background: PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases, including type 1 diabetes (T1D) which is a T-cell-mediated disease.Objective: The present study was aimed at genotyping of an Iranian population for five polymorphisms of the PTPN22 gene.Methods: The study population consisted of 99 T1D patients and 100 healthy controls. We genotyped five single-nucleotide polymorphisms (SNPs) (rs12760457, rs1310182, rs1217414, rs33996649, and rs2476601) of the PTPN22 gene.Results: Regarding the variant rs2476601, genotypes AG and GG were increased and decreased in T1D patients compared with controls, respectively. Further, alleles G and A of this SNP were found to be decreased and increased in T1D patients, respectively (p value = 0.001). However, T1D and control groups did not differ on genotype distribution or allele frequency for other investigated SNPs.Conclusions: The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases.

引用

页码：409 / 418

页数：10

共 60 条

[21] Genomic DNA extraction from whole blood stored from 15- to 30-years at -20 °C by rapid phenol-chloroform protocol: A useful tool for genetic epidemiology studies [J].

Di Pietro, Fabio ;

Ortenzi, Francesco ;

Tilio, Martina ;

Concetti, Fabio ;

Napolioni, Valerio .

MOLECULAR AND CELLULAR PROBES, 2011, 25 (01) :44-48

[22] Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis [J].

Diaz-Gallo, L. M. ;

Gourh, P. ;

Broen, J. ;

Simeon, C. ;

Fonollosa, V. ;

Ortego-Centeno, N. ;

Agarwal, S. ;

Vonk, M. C. ;

Coenen, M. ;

Riemekasten, G. ;

Hunzelmann, N. ;

Hesselstrand, R. ;

Tan, F. K. ;

Reveille, J. D. ;

Assassi, S. ;

Garcia-Hernandez, F. J. ;

Carreira, P. ;

Camps, M. T. ;

Fernandez-Nebro, A. ;

Garcia de la Pena, P. ;

Nearney, T. ;

Hilda, D. ;

Gonzalez-Gay, M. A. ;

Airo, P. ;

Beretta, L. ;

Scorza, R. ;

Herrick, A. ;

Worthington, J. ;

Pros, A. ;

Gomez-Gracia, I. ;

Trapiella, L. ;

Espinosa, G. ;

Castellvi, I. ;

Witte, T. ;

de Keyser, F. ;

Vanthuyne, M. ;

Mayes, M. D. ;

Radstake, T. R. D. J. ;

Arnett, F. C. ;

Martin, J. ;

Rueda, B. .

ANNALS OF THE RHEUMATIC DISEASES, 2011, 70 (03) :454-462

[23] Differential Association of Two PTPN22 Coding Variants with Crohn's Disease and Ulcerative Colitis [J].

Diaz-Gallo, Lina-Marcela ;

Espino-Paisan, Laura ;

Fransen, Karin ;

Gomez-Garcia, Maria ;

van Sommeren, Suzanne ;

Cardena, Carlos ;

Rodrigo, Luis ;

Mendoza, Juan Luis ;

Taxonera, Carlos ;

Nieto, Antonio ;

Alcain, Guillermo ;

Cueto, Ignacio ;

Lopez-Nevot, Miguel A. ;

Bottini, Nunzio ;

Barclay, Murray L. ;

Crusius, J. Bart ;

van Bodegraven, Adriaan A. ;

Wijmenga, Cisca ;

Ponsioen, Cyriel Y. ;

Gearry, Richard B. ;

Roberts, Rebecca L. ;

Weersma, Rinse K. ;

Urcelay, Elena ;

Merriman, Tony R. ;

Alizadeh, Behrooz Z. ;

Martin, Javier .

INFLAMMATORY BOWEL DISEASES, 2011, 17 (11) :2287-2294

[24] The PTPN22 620W allele confers susceptibility to systemic sclerosis -: Findings of a large case-control study of European caucasians and a meta-analysis [J].

Dieude, P. ;

Guedj, M. ;

Wipff, J. ;

Avouac, J. ;

Hachulla, E. ;

Diot, E. ;

Granel, B. ;

Sibilia, J. ;

Cabane, J. ;

Meyer, O. ;

Mouthon, L. ;

Kahan, A. ;

Boileau, C. ;

Allanore, Y. .

ARTHRITIS AND RHEUMATISM, 2008, 58 (07) :2183-2188

[25] The frequency of C3435T MDR1 gene polymorphism in Iranian patients with ulcerative colitis [J].

Farnood, Alma ;

Naderi, Nosratollah ;

Moghaddam, Seyed Javad Mirhasani ;

Noorinayer, Babak ;

Firouzi, Farzad ;

Aghazadeh, Rahim ;

Daryani, Nasser Ebrahimi ;

Zali, Mohammad Reza .

INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2007, 22 (09) :999-1003

[26] Roles of the protein tyrosine phosphatase PTPN22 in immunity and autoimmunity [J].

Fousteri, Georgia ;

Liossis, Stamatis-Nick C. ;

Battaglia, Manuela .

CLINICAL IMMUNOLOGY, 2013, 149 (03) :556-565

[27] PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells [J].

Hasegawa, K ;

Martin, F ;

Huang, GM ;

Tumas, D ;

Diehl, L ;

Chan, AC .

SCIENCE, 2004, 303 (5658) :685-689

[28] Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population -: Further support that PTPN22 is an autoimmunity gene [J].

Hinks, A ;

Barton, A ;

John, S ;

Bruce, I ;

Hawkins, C ;

Griffiths, CEM ;

Donn, R ;

Thomson, W ;

Silman, A ;

Worthington, J .

ARTHRITIS AND RHEUMATISM, 2005, 52 (06) :1694-1699

[29] A PTPN22 promoter polymorphism-1123G>C is associated with RA pathogenesis in Chinese [J].

Huang, Jian-Jun ;

Qiu, Yu-Rong ;

Li, Hai-Xia ;

Sun, De-Hua ;

Yang, Jia ;

Yang, Chun-Li .

RHEUMATOLOGY INTERNATIONAL, 2012, 32 (03) :767-771

[30] Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population [J].

Kahles, H ;

Ramos-Lopez, E ;

Lange, B ;

Zwermann, O ;

Reincke, M ;

Badenhoop, K .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2005, 153 (06) :895-899

← 1 2 3 4 5 6 →