白细胞介素 17 受体 A 单倍型分析在慢性自发性荨麻疹中的初步研究。

Interleukin 17 receptor A haplotype analysis in chronic spontaneous urticaria: A preliminary study.

机构信息

Dermatology, Venereology and Andrology Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

Clinical Pathology Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

出版信息

J Cosmet Dermatol. 2021 Apr;20(4):1331-1342. doi: 10.1111/jocd.13730. Epub 2020 Oct 12.

DOI:10.1111/jocd.13730

PMID:32969586

Abstract

BACKGROUND

Chronic spontaneous urticaria (CSU) is a distressing skin disease. Family clustering and heterogeneity in the onset and progression indicate that susceptibility to CSU is a complex trait. In this study, we performed haplotype analysis for one of the key player gene, IL17RA, for CSU to test the association with disease susceptibility and severity.

METHODOLOGY

The study included 70 CSU patients and 30 healthy controls. The severity of the disease was evaluated by autologous serum skin test (ASST) and urticaria activity score (UAS). ASST test was done and quality of life was assessed using a questionnaire. Allelic discrimination analysis for rs4819554 and rs879577 was performed using real-time polymerase chain reaction technology.

RESULTS

Carriers of rs4819554G were more prone to develop CSU than its counterpart (P = .039), while rs4819554A allele displayed more severe phenotype in the form of more prolonged disease duration (P = .040), concurrent angioedema (P < .001), higher level of treatment (P < .001), and higher score of quality of life (P < .001). Additionally, homozygote patients with rs879577CC were associated with angioedema (P < .001). Haplotype analysis revealed that cohorts with both rs4819554A and rs879577*T conferred protection against developing CSU (OR = 0.07, 95% CI = 0.01-0.32, P = .001).

CONCLUSION

Our results showed that IL17RA gene polymorphisms might contribute to the increased susceptibility to CSU.

摘要

背景

慢性自发性荨麻疹（CSU）是一种令人痛苦的皮肤病。家族聚集性和发病及进展的异质性表明，CSU 的易感性是一种复杂的特征。在这项研究中，我们对其中一个关键基因 IL17RA 进行了单体型分析，以检验其与疾病易感性和严重程度的关联。

方法

这项研究包括 70 名 CSU 患者和 30 名健康对照者。通过自身血清皮肤试验（ASST）和荨麻疹活动评分（UAS）评估疾病严重程度。进行 ASST 试验，并使用问卷评估生活质量。使用实时聚合酶链反应技术对 rs4819554 和 rs879577 进行等位基因鉴别分析。

结果

与 rs4819554G 携带者相比，rs4819554G 携带者更容易患上 CSU（P=0.039），而 rs4819554A 等位基因则表现出更严重的表型，表现为疾病持续时间更长（P=0.040）、并发血管性水肿（P<0.001）、更高的治疗水平（P<0.001）和更高的生活质量评分（P<0.001）。此外，rs879577CC 纯合子患者与血管性水肿有关（P<0.001）。单体型分析显示，同时携带 rs4819554A 和 rs879577T 的队列对 CSU 的发病具有保护作用（OR=0.07，95%CI=0.01-0.32，P=0.001）。