Sadr Maryam, Moazzami Bobak, Soleimanifar Narjes, Elhamian Nazanin, Rezaei Arezoo, Ebrahimi Daryani Nasser, Rezaei Nima
a Molecular Immunology Research Center, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.
b Research Center for Immunodeficiencies, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.
Fetal Pediatr Pathol. 2019 Feb;38(1):8-13. doi: 10.1080/15513815.2018.1543371. Epub 2019 Jan 12.
Protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) single-nucleotide polymorphisms (SNP) have been associated with a number of different autoimmune diseases. This study aimed to investigate the association of five polymorphisms of PTPN22 gene with susceptibility to ulcerative colitis (UC) in Iran.
A total of 67 patients diagnosed with UC (35 female and 32 male all under 18 years) and 93 healthy subjects were selected. The samples were genotyped for the, rs12760457, rs2476601, rs1310182, rs1217414, and rs33996649 in PTPN22 gene using real-time polymerase chain reaction (PCR) allelic discrimination TaqMan genotyping assays.
The frequencies of the rs1310182 A and G alleles, and also the AA and GG genotypes were significantly different between the patient and the control groups (p < 0.05). The carriage of G allele of rs1310182 was significantly associated with increased risk of UC (OR (95% CI) = 1.17 (0.70-1.98), p < 0.001). Moreover, the genotype GG of SNP rs1310182 was significantly associated with UC (OR (95% CI) = 2.32 (1.13-4.76), p < 0.01). No association was found between other PTPN22 gene SNPs among UC patients.
PTPN22 gene polymorphism in rs1310182 could play a crucial role in susceptibility to UC.
蛋白酪氨酸磷酸酶非受体22型基因（PTPN22）单核苷酸多态性（SNP）与多种不同的自身免疫性疾病相关。本研究旨在调查伊朗人群中PTPN22基因的5种多态性与溃疡性结肠炎（UC）易感性的关联。
共选取67例确诊为UC的患者（35例女性和32例男性，均未满18岁）以及93名健康受试者。采用实时聚合酶链反应（PCR）等位基因鉴别TaqMan基因分型检测法对PTPN22基因中的rs12760457、rs2476601、rs1310182、rs1217414和rs33996649进行基因分型。
患者组与对照组之间，rs1310182的A和G等位基因频率以及AA和GG基因型频率存在显著差异（p < 0.05）。rs1310182的G等位基因携带与UC风险增加显著相关（OR（95%CI）= 1.17（0.70 - 1.98），p < 0.001）。此外，SNP rs1310182的GG基因型与UC显著相关（OR（95%CI）= 2.32（1.13 - 4.76），p < 0.01）。在UC患者中未发现其他PTPN22基因SNP之间存在关联。
rs1310182处的PTPN22基因多态性可能在UC易感性中起关键作用。
