Bergler-Czop Beata, Miziołek Bartosz, Sierant Katarzyna, Sazanów-Lubelski Jakub, Brzezińska-Wcisło Ligia
Department of Dermatology, Medical University of Silesia, Katowice, Poland.
Chair and Department of Dermatology, Andrzej Mielęcki Silesian Independent Public Hospital, Katowice, Poland.
Postepy Dermatol Alergol. 2020 Dec;37(6):915-920. doi: 10.5114/ada.2020.102108. Epub 2021 Jan 6.
Psoriasis is a chronic autoimmune inflammatory disease, the prevalence of which is 1-3% in the Polish population. Genome testing using single nucleotide polymorphisms revealed more than 50 regions associated with the risk of psoriasis, and most of these genes are associated with the immune system.
To assess the presence of PSEN1 subunits of the γ-secretase gene polymorphisms in patients with psoriasis and comparison of results with a healthy control group.
We used polymerase chain reaction - restriction fragment length polymorphism (PCR RFLP) method to assess polymorphisms. The starting material for analysis was peripheral blood obtained from the patient.
PSEN1a-positivity was found in 2/52 (2.78%) of patients with psoriasis and 1/36 (3.85%) of healthy controls. PSEN1b positivity was seen in 3/52 (5.77%) of patients with psoriasis and 1/36 (3.85%) of control individuals. Only 3 patients with psoriasis but none of healthy volunteers had a presence of PSEN1c. Four patients were excluded from further statistical analysis.
We have not shown a relationship between PSEN1 polymorphism and the clinical occurrence of psoriasis but now we start the assessment of other subunits of the γ-secretase gene - PSENEN and NCSTN.
银屑病是一种慢性自身免疫性炎症性疾病，在波兰人群中的患病率为1%-3%。使用单核苷酸多态性进行的基因组检测发现了50多个与银屑病风险相关的区域，其中大多数基因与免疫系统有关。
评估银屑病患者中γ-分泌酶基因多态性的PSEN1亚基的存在情况，并将结果与健康对照组进行比较。
我们使用聚合酶链反应-限制性片段长度多态性（PCR RFLP）方法评估多态性。分析的起始材料是从患者获得的外周血。
在52例银屑病患者中有2例（2.78%）PSEN1a呈阳性，在36例健康对照中有1例（3.85%）呈阳性。在52例银屑病患者中有3例（5.77%）PSEN1b呈阳性，在对照个体中有1例（3.85%）呈阳性。只有3例银屑病患者存在PSEN1c，而健康志愿者中无一例存在。四名患者被排除在进一步的统计分析之外。
我们尚未发现PSEN1多态性与银屑病临床发病之间的关系，但现在我们开始评估γ-分泌酶基因的其他亚基——PSENEN和NCSTN。
