Tarlé Roberto Gomes, Silva de Castro Caio Cesar, do Nascimento Liliane Machado, Mira Marcelo Távora
Department of Dermatology, Santa Casa de Misericórdia de Curitiba Hospital, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.
Exp Dermatol. 2015 Apr;24(4):300-2. doi: 10.1111/exd.12641.
Vitiligo is a depigmenting disorder characterized by loss of functional melanocytes from the epidermis. Experimental data suggest that defective melanocyte adhesion may underlie the pathogenesis of the disease. In particular, association between vitiligo and genetic variants of the DDR1 gene involved in melanocyte adhesion has been recently published. A subsequent, independent study revealed lower expression of DDR1 in vitiligo lesions. Here, we expand this investigation by testing for association between vitiligo and polymorphisms of CDH1, IL1B and NOV (formerly CCN3), genes belonging to the DDR1 adhesion pathway, in two population samples of distinct design. Our results reveal that alleles of marker rs10431924 of the CDH1 gene are associated with vitiligo, especially in the presence of autoimmune comorbidities.
白癜风是一种色素脱失性疾病，其特征是表皮功能性黑素细胞丧失。实验数据表明，黑素细胞黏附缺陷可能是该疾病发病机制的基础。特别是，最近已发表白癜风与参与黑素细胞黏附的DDR1基因的遗传变异之间的关联。随后一项独立研究显示，DDR1在白癜风皮损中的表达较低。在此，我们通过在两个设计不同的人群样本中检测白癜风与属于DDR1黏附途径的CDH1、IL1B和NOV（以前称为CCN3）基因多态性之间的关联，扩展了这项研究。我们的结果显示，CDH1基因标记rs10431924的等位基因与白癜风相关，尤其是在存在自身免疫性合并症的情况下。
