Dermatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Kasr AL-Ainy's Psoriasis Unit (KAPU), Faculty of Medicine, Cairo University, Cairo, Egypt.
Skin Pharmacol Physiol. 2020;33(4):207-212. doi: 10.1159/000509880. Epub 2020 Sep 2.
Janus kinases (JAKs) are a family of non-receptor protein tyrosine kinases that are expressed in a variety of tissues. Several JAK-controlled cytokine receptor pathways are incriminated in the initiation and progression of psoriasis. Genetic polymorphisms influencing JAK expression would be anticipated to have a great impact on disease activity.
The aim of the study was to evaluate the association between JAK1 rs310241 and JAK3 rs3008 polymorphisms and the risk of developing psoriasis.
Blood samples of 150 patients and 120 controls were screened for nucleotide polymorphisms in JAK1 rs310241 and JAK3 rs3008 genes by using polymerase chain reaction (PCR)-restriction fragment length polymorphism technique.
The GG genotype of the JAK1 rs310241 and JAK3 rs3008 genes was significantly associated with an increase in psoriasis risk (p = 0.000, OR = 7.7, 95% CI = 2.8-21.5; p = 0.003, OR = 3.3, 95% CI = 1.5-6.9, respectively). The G allele of both genes was also associated with psoriasis susceptibility (p = 0.000, OR = 2.0, 95% CI = 1.4-2.8; p = 0.002, OR = 1.7, 95% CI = 1.2-2.4, respectively).
The results indicate a possible association between JAK1 rs310241 and JAK3 rs3008 gene polymorphisms and susceptibility to psoriasis. These findings validate the importance of these molecules in psoriasis and may enable the identification of the individuals most susceptible to the disease.
Janus 激酶(JAKs)是一类非受体蛋白酪氨酸激酶,在多种组织中表达。几种 JAK 调控的细胞因子受体途径被认为与银屑病的发生和发展有关。影响 JAK 表达的遗传多态性预计会对疾病活动产生重大影响。
本研究旨在评估 JAK1 rs310241 和 JAK3 rs3008 多态性与发生银屑病风险之间的关系。
采用聚合酶链反应(PCR)-限制性片段长度多态性技术,对 150 例患者和 120 例对照的血液样本进行 JAK1 rs310241 和 JAK3 rs3008 基因核苷酸多态性检测。
JAK1 rs310241 和 JAK3 rs3008 基因的 GG 基因型与银屑病发病风险增加显著相关(p = 0.000,OR = 7.7,95%CI = 2.8-21.5;p = 0.003,OR = 3.3,95%CI = 1.5-6.9)。这两个基因的 G 等位基因也与银屑病易感性相关(p = 0.000,OR = 2.0,95%CI = 1.4-2.8;p = 0.002,OR = 1.7,95%CI = 1.2-2.4)。
结果提示 JAK1 rs310241 和 JAK3 rs3008 基因多态性与银屑病易感性之间可能存在关联。这些发现验证了这些分子在银屑病中的重要性,并可能使我们能够识别最易患该病的个体。