Laboratory of Immunology, Charles Nicolle Hospital, Boulevard 9 Avril, Tunis 1006, Tunisia.
World J Gastroenterol. 2010 Jan 28;16(4):479-83. doi: 10.3748/wjg.v16.i4.479.
To assess the possible association between PTPN22 (R620W) gene polymorphism and inflammatory bowel disease (IBD).
One hundred and sixty-four patients with IBD [105 Crohn's disease (CD) and 59 ulcerative colitis (UC)] and 100 healthy controls were recruited. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by restriction fragment length polymorphism-polymerase chain reaction with RsaI digestion.
The genotypic and allelic frequencies of (R620W) PTPN22 gene polymorphism reveal a significant association of the PTPN22 620-W allele with IBD, compared to the healthy control group (OR: 17.81, 95% CI: 4.18-21.86, P = 0.00001). Nevertheless, no difference in this polymorphism was found between CD and UC patients. No significant association was found between the frequencies of genotypes of the PTPN22 gene with either the clinical features such as sex, age, age at disease onset, and extent of colitis, or the production of serological markers (anti-Saccharomyces cerevisiae antibody in CD and perinuclear anti-neutrophil cytoplasmic antibody in UC).
These observations confirm the association of IBD susceptibility with the PTPN22 1858T (620-W) allele in Tunisian patients.
评估蛋白酪氨酸磷酸酶非受体 22（PTPN22）基因（R620W）多态性与炎症性肠病（IBD）之间可能存在的关联。
招募了 164 名 IBD 患者[105 例克罗恩病（CD）和 59 例溃疡性结肠炎（UC）]和 100 名健康对照者。采用 RsaI 消化的限制性片段长度多态性-聚合酶链反应方法对 PTPN22 基因 1858C-->T 多态性进行基因分型。
（R620W）PTPN22 基因多态性的基因型和等位基因频率显示，与健康对照组相比，PTPN22 620-W 等位基因与 IBD 存在显著关联（OR：17.81，95%CI：4.18-21.86，P = 0.00001）。然而，在 CD 和 UC 患者之间，这种多态性没有差异。PTPN22 基因基因型的频率与性别、年龄、发病年龄、结肠炎程度等临床特征或血清学标志物（CD 中的抗酿酒酵母抗体和 UC 中的核周抗中性粒细胞胞质抗体）的产生之间没有显著关联。
这些观察结果证实了 PTPN22 1858T（620-W）等位基因与突尼斯患者 IBD 易感性之间的关联。
