Ayed M B, Martel P, Zitouni M, Gilbert D, Turki H, Mokni M, Osman A B, Kamoun M R, Zahaf A, Makni S, Masmoudi H, Tron F
Laboratoire d'Immunologie, CHU Hedi Chaker, Sfax, Tunisia.
Genes Immun. 2002 Sep;3(6):378-9. doi: 10.1038/sj.gene.6363868.
Desmoglein 1 is the target antigen and probably the initiating immunogen of the autoantibody response in pemphigus foliaceus (PF), a blistering autoimmune skin disease. We previously showed that the desmoglein 1 gene (DSG1) is polymorphic and that one of its variants is associated with the sporadic form of PF observed in France. Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations.
桥粒芯蛋白1是落叶型天疱疮(PF,一种自身免疫性水疱性皮肤病)中自身抗体反应的靶抗原,可能也是起始免疫原。我们之前发现桥粒芯蛋白1基因(DSG1)具有多态性,并且其中一种变体与在法国观察到的散发性PF有关。在此,我们基于病例对照分析报告,相同的DSG1多态性参与了突尼斯所见的地方性PF的易感性,从而表明在不同的流行病学和环境情况下,共同的遗传因素决定了对桥粒芯蛋白1耐受性的破坏。