无证据表明蛋白酪氨酸磷酸酶非受体型22基因（PTPN22）1858位点C/T单核苷酸多态性与原发性干燥综合征之间存在关联。
No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome.
作者信息
Ittah M, Gottenberg J-E, Proust A, Hachulla E, Puechal X, Loiseau P, Mariette X, Miceli-Richard C
机构信息
Service de Rhumatologie, Institut Pour la Santé et la Recherche Médicale E 109, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
出版信息
Genes Immun. 2005 Aug;6(5):457-8. doi: 10.1038/sj.gene.6364229.
One-third of first-degree relatives of patients with primary Sjögren's syndrome (pSS) suffer from other autoimmune diseases, including type I diabetes, systemic lupus erythematosus and autoimmune thyroiditis. Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseases. We decided to investigate whether PTPN22 gene polymorphism was also involved in the genetic predisposition to pSS in a case-control study, including 183 patients with pSS and 172 healthy controls. No significant differences in allele (T allele frequency: 7.7% in patients with pSS vs 7.8% in controls, P=0.9) and genotype frequencies of PTPN22 polymorphism were detected between patients with pSS and controls. PTPN 22 gene polymorphism was not associated with a specific pattern of autoantibody secretion either. Thus, 1858 C/T polymorphism of PTPN22 gene is not involved in genetic predisposition to pSS.
原发性干燥综合征（pSS）患者的一级亲属中有三分之一患有其他自身免疫性疾病，包括I型糖尿病、系统性红斑狼疮和自身免疫性甲状腺炎。最近，据报道PTPN22基因的1858 C/T多态性易引发这些自身免疫性疾病。我们决定在一项病例对照研究中调查PTPN22基因多态性是否也与pSS的遗传易感性有关，该研究包括183例pSS患者和172例健康对照。在pSS患者和对照之间，未检测到PTPN22多态性的等位基因（T等位基因频率：pSS患者中为7.7%，对照中为7.8%，P = 0.9）和基因型频率有显著差异。PTPN 22基因多态性也与自身抗体分泌的特定模式无关。因此，PTPN22基因的1858 C/T多态性不参与pSS的遗传易感性。
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