外显子组分析提示髓过氧化物酶、Toll样受体和金属肽酶在化脓性汗腺炎中的联合作用。
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa.
作者信息
Azzarà Alessia, Cassano Ilaria, Lintas Carla, Gurrieri Fiorella
机构信息
Research Unit of Medical Genetics, Department of Medicine and Surgery, University Campus Bio-Medico of Rome, Via Alvaro del Portillo 21, 00128 Rome, Italy.
Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy.
出版信息
Biomedicines. 2024 Oct 31;12(11):2498. doi: 10.3390/biomedicines12112498.
BACKGROUND
Hidradenitis suppurativa, also called acne inversa, is a chronic skin inflammatory condition involving hair follicles, sebaceous glands, and apocrine glands. Symptoms can be variable in intensity, ranging from mild to severe. The exact causes of hidradenitis suppurativa are not fully understood, but the etiology is presumed to be multifactorial, encompassing genetics and environmental factors.
METHODS
Two families presented with hidradenitis suppurativa with an autosomal dominant pattern. We performed whole-exome sequencing in two unrelated patients from the two families.
RESULTS
We identified two and three variants in the two families, respectively. Variants involved the and genes in the first family and the , , and genes, some of which have already been previously reported as possible candidates for hidradenitis suppurativa.
CONCLUSION
It is very likely that variants in a single gene only rarely cause the condition and that most cases, especially familial hidradenitis suppurativa cases, may more probably take the form of polygenic disorders.
背景
化脓性汗腺炎，又称反向性痤疮，是一种涉及毛囊、皮脂腺和顶泌汗腺的慢性皮肤炎症性疾病。症状强度可变，从轻度到重度不等。化脓性汗腺炎的确切病因尚未完全明确，但病因推测是多因素的，包括遗传和环境因素。
方法
两个家族呈现出常染色体显性模式的化脓性汗腺炎。我们对来自这两个家族的两名无关患者进行了全外显子组测序。
结果
我们在这两个家族中分别鉴定出两个和三个变异。第一个家族中的变异涉及 和 基因，第二个家族中的变异涉及 、 和 基因，其中一些基因先前已被报道可能是化脓性汗腺炎的候选基因。
结论
单基因变异极有可能很少导致该病，而且大多数病例，尤其是家族性化脓性汗腺炎病例，更可能以多基因疾病的形式出现。
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