Association of PTPN22 Single Nucleotide Polymorphisms with Celiac Disease

作者：Aflatounian Majid; Rezaei Arezou; Sadr Maryam; Saghazadeh Amene; Elhamian Nazanin; Sadeghi Hengameh; Motevasselian Fatemeh; Farahmand Fatemeh; Fallahi Gholamhossein; Motamed Farzaneh; Najafi Mehri; Rezaei Nima^*

来源：Fetal and Pediatric Pathology, 2017, 36(3): 195-202.

DOI：10.1080/15513815.2017.1290725

• Polymorphisms
• genetics
• non-HLA
• celiac disease
• PTPN22

Objectives: Celiac disease is a chronic autoimmune disease in which gene-environment interactions cause the immune system to unfavorably react to naturally gluten-containing foods. 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. The present genetic association study was conducted to investigate the possible associations between PTPNTT single nucleotide polymorphisms (SNPs) and celiac disease in an Iranian population. Materials and methods: The study population consisted of 45 patients with celiac disease and 93 healthy controls. The study genotyped five SNPs of the PTPN22 gene: rs12760457, rs1310182, rs1217414, rs33996649, and rs2476601. Results and conclusions: Control and patient groups did not differ on the genotype distribution of four of five investigated SNPs in the PTPN22 gene, for example, rs12760457, rs2476601, rs1217414, and rs33996649. The only investigated PTPN22 variant, which could be associated with CD, was rs1310182. A significant increase in the carriage of the T allele of rs1310182 in CD patients was observed (OR (95% CI) = 11.42 (5.41, 24.1), p value < 0.0001). The TT genotype of this SNP was significantly associated with celiac disease. Our study suggests that the rs1310182 SNP of PTPN22 gene may be a predisposing factor of celiac disease in the Iranian population. Further studies are required to investigate the issue in other racial and ethnic subgroups.

• 出版日期2017