A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease
A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease
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桥粒芯糖蛋白 1（落叶型天疱疮的靶自身抗原）编码基因的多态性变异与该疾病相关
DOI：
10.1038/sj.gene.6363718
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发表时间：
2001
影响因子：
5
通讯作者：
F. Tron
中科院分区：
文献类型：
--
作者：
P. Martel;D. Gilbert;L. Drouot;C. Prost;G. Raux;E. Delaporte;P. Joly;F. Tron
在落叶型天疱疮（PF）（一种皮肤自身免疫性水疱病）的桥粒芯糖蛋白1基因上发现了两个多态性标记，该基因编码致病抗体靶向的自身抗原。第一个标记由位于编码蛋白质的第四和第五胞外结构域的基因部分上的五个错义突变的变体单倍型组成，与疾病无关。第二个标记物由在位置809处的单个沉默T到C转变组成，并且发现在白人PF患者（n = 36）中比对照（n = 98）显著更频繁（P = 0.015）。因此，落叶型天疱疮构成了自身免疫性疾病的另一个例子，其中自身抗原多态性有助于疾病易感性。
Two polymorphic markers were identified on the desmoglein 1 gene which encodes the autoantigen targeted by pathogenic antibodies in pemphigus foliaceus (PF), a cutaneous autoimmune blistering disease. The first marker, made of a variant haplotype of five mis-sense mutations located on the part of the gene encoding the fourth and fifth extracellular domains of the protein, is not associated with the disease. The second marker consists of a single silent T to C transition at position 809 and was found to be significantly more frequent (P = 0.015) in Caucasian PF patients (n = 36) than in controls (n = 98). Thus, pemphigus foliaceus constitutes another example of autoimmune disease in which the autoantigen polymorphism contributes to disease susceptibility.
DSG1（编码落叶型天疱疮抗原的牛桥粒钙粘蛋白基因）的结构。
DOI：
--
发表时间：
1994
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Puttagunta,S;Mathur,M;Cowin,P
通讯作者：
Cowin,P