A Anani Haneya A, Khalifa Warda A, Althoqapy Azza Ali, Maklad Soheir S, Kamal Hoda, Sabry Dina, Samir Mai
Department of Medical Microbiology and Immunology, Faculty of Medicine for Girls, Al-Azhar University, Badr City 11829, Egypt.
Department of Microbiology and Immunology, Faculty of Medicine, Badr University in Cairo, Badr City 11829, Egypt.
Indian J Dermatol. 2022 Jan-Feb;67(1):37-44. doi: 10.4103/ijd.ijd_799_21.
This study was performed to determine the genotype and allelic frequencies (polymorphisms) of the four genes of vitamin D receptor (VDR) among Egyptian psoriatic patients and healthy controls to explore their association with disease severity (PASI) score and immune modulation of IL-22 cytokine and to predict the response to topical calcipotriol treatment.
The frequencies of the four VDR gene polymorphisms (FokI, ApaI, TaqI, and BsmI) in blood samples of 51 adult Egyptian patients with psoriasis vulgaris and 50 healthy controls were evaluated using restriction fragment length polymorphism (RFLP)-PCR. Serum levels of IL-22 were measured by ELISA.
The most frequent genotype (wild) in the studied patients was Apa1; AA (88.2%) followed by Fok1; FF (47.1%) and Taq1; TT (47%), while Bsm1; BB genotype was (27.7%). The most frequent allele polymorphisms either in one allele (Bb) or both alleles (bb) in psoriatic patients were 72.5%, followed by Ff, ff (52.9%) and Tt, tt (52.9%). The less frequent allelic polymorphism was Aa, aa (27.7%). Insignificant differences in the frequency of genotype (wild) and allelic polymorphisms were detected between patients and controls ( > 0.05). A significantly higher serum concentration of IL-22 (ng/mL) was detected in patients than controls ( = 0.001). Further, 66.6% of patients displayed a clinical response, while 33.4% were non-responders. A significantly higher expression of TaqI polymorphism was detected in (100%) of non-responders ( < 0.001), which was also correlated with disease severity (r = 0.515, < 0.01).
These results suggest that the VDR TaqI polymorphism is the only gene correlated to psoriasis susceptibility in the Egyptian population, and affects the response to topical calcipotriol treatment but does not affect IL-22 immune modulation.
本研究旨在确定埃及银屑病患者和健康对照者中维生素D受体（VDR）四个基因的基因型和等位基因频率（多态性），以探讨它们与疾病严重程度（银屑病面积和严重程度指数，PASI）评分以及白细胞介素-22（IL-22）细胞因子免疫调节的关联，并预测对局部用卡泊三醇治疗的反应。
采用限制性片段长度多态性（RFLP）-聚合酶链反应（PCR）评估51例成年埃及寻常型银屑病患者和50例健康对照者血样中VDR基因的四种多态性（FokI、ApaI、TaqI和BsmI）的频率。通过酶联免疫吸附测定（ELISA）法检测血清IL-22水平。
研究患者中最常见的基因型（野生型）是Apa1；AA（88.2%），其次是Fok1；FF（47.1%）和Taq1；TT（47%），而Bsm1；BB基因型为（27.7%）。银屑病患者中一个等位基因（Bb）或两个等位基因（bb）的最常见等位基因多态性为72.5%，其次是Ff、ff（52.9%）和Tt、tt（52.9%）。频率较低的等位基因多态性是Aa、aa（27.7%）。患者和对照者之间在基因型（野生型）频率和等位基因多态性方面未检测到显著差异（>0.05）。患者血清中IL-22（ng/mL）浓度显著高于对照者（P = 0.001）。此外，66.6%的患者有临床反应，而33.4%为无反应者。在100%的无反应者中检测到TaqI多态性的显著高表达（P < 0.001），这也与疾病严重程度相关（r = 0.515，P < 0.01）。
这些结果表明，VDR TaqI多态性是埃及人群中唯一与银屑病易感性相关的基因，影响对局部用卡泊三醇治疗的反应，但不影响IL-22免疫调节。
