Stawczyk-Macieja Marta, Szczerkowska-Dobosz Aneta, Rębała Krzysztof, Gabig-Cimińska Magdalena, Nowicki Roman J, Haraś Agnieszka, Cybulska Lidia, Kapińska Ewa
Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland.
Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland.
Postepy Dermatol Alergol. 2018 Jun;35(3):286-292. doi: 10.5114/ada.2018.76226. Epub 2018 Jun 18.
is a major psoriasis genetic risk marker. Recent reports have been focused on the role of different polymorphisms within genes involved in the functioning of the epidermal barrier and antigen processing in the pathogenesis of psoriasis. Data on the association between genetic variants of , and this dermatosis in the population from Eastern Europe are lacking.
To compare the association between known genetic risk markers and psoriasis in a cohort of northern Polish patients with psoriasis and healthy controls.
Based on previous studies' results, five susceptibility loci: and were selected for genotyping in 148 patients with chronic plaque psoriasis and 146 healthy controls. Each patient with this disease was clinically assessed with the Psoriasis Area and Severity Index.
The study population showed a significant association of psoriasis and a single nucleotide polymorphism in the - rs26653 ( = 3.11 × 10) and allele ( = 1.02 × 10) when compared with the control group. The presence of or rs26653 G allele significantly increased the risk of psoriasis by 2.4 times or twice, respectively. Carrying rs26653 C allele considerably decreased the risk of psoriasis by 1.5 times.
In the context of pathogenesis of psoriasis, our findings might give the evidence on disturbances in the proteolytic processing of N-terminal fragments of antigens presented via major histocompatibility complex class I to T cells.
是银屑病的主要遗传风险标志物。近期报告聚焦于参与表皮屏障功能和抗原加工的基因内不同多态性在银屑病发病机制中的作用。关于东欧人群中、与这种皮肤病之间遗传变异关联的数据尚缺。
比较波兰北部银屑病患者队列与健康对照中已知遗传风险标志物与银屑病的关联。
基于既往研究结果,选择五个易感基因座:和进行基因分型,纳入148例慢性斑块状银屑病患者和146例健康对照。对每例该病患者进行银屑病面积和严重程度指数的临床评估。
与对照组相比,研究人群显示银屑病与基因的单核苷酸多态性rs26653(= 3.11 × 10)和等位基因(= 1.02 × 10)存在显著关联。存在或rs26653 G等位基因分别使银屑病风险显著增加2.4倍或两倍。携带rs26653 C等位基因使银屑病风险大幅降低1.5倍。
在银屑病发病机制背景下,我们的研究结果可能为通过主要组织相容性复合体I类分子呈递给T细胞的抗原N端片段的蛋白水解加工紊乱提供证据。