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

[1] Reduced CD4+ T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant [J].