Singh Mala, Mansuri Mohmmad Shoab, Jadeja Shahnawaz D, Marfatia Yogesh S, Begum Rasheedunnisa
Department of Biochemistry, Faculty of Science, The Maharaja Sayajirao University of Baroda, Vadodara, Gujarat, India.
Department of Skin and VD, Sir Sayajiraogaikwad Medical College, The Maharaja Sayajirao University of Baroda, Vadodara, Gujarat, India.
Indian J Dermatol Venereol Leprol. 2018 May-Jun;84(3):285-291. doi: 10.4103/ijdvl.IJDVL_1_17.
Vitiligo is a multifactorial, polygenic, autoimmune skin disorder caused by selective destruction of melanocytes. Interleukin 1 receptor antagonist intron 2 polymorphism was found to be associated with various autoimmune disorders.
We aimed to investigate the association of interleukin 1 receptor antagonist intron 2 variable number of tandem repeats polymorphism (rs2234663) with vitiligo to assess interleukin 1 receptor antagonist transcript levels and to perform possible genotype-phenotype correlation.
Three hundred and seven vitiligo patients and 316 controls were enrolled in the study, genotyping of interleukin 1 receptor antagonist rs2234663 was performed by polymerase chain reaction, and relative gene expression of interleukin 1 receptor antagonist was carried out in peripheral blood mononuclear cells from patients (n = 36) and controls (n = 36) by real-time-PCR.
A significant difference was observed in the frequency of interleukin 1 receptor antagonist A (1/2) genotype among patients with active and stable vitiligo (P = 0.0172). Interleukin 1 receptor antagonistA (2/2) genotype and allele frequencies were significantly different between SV patients and controls (P = 0.0246 and P = 0.0046, respectively). Significant difference was also observed for interleukin 1 receptor antagonistA2 (allele) in active and stable vitiligo patients (P = 0.0060). However, other comparisons did not show any significant difference in genotype and allele frequencies. Moreover, interleukin 1 receptor antagonistA (3/2) genotype was observed only in patients whereas interleukin 1 receptor antagonistA (5/2) was observed only in controls. Gene expression analysis showed no significant difference in interleukin 1 receptor antagonist transcript levels in patients compared to controls (P = 0.5962). Interestingly, genotype-phenotype correlation analysis revealed that individuals with IL1RNA (2/2) exhibited higher interleukin 1 receptor antagonist expression compared to other major genotypes interleukin 1 receptor antagonistA (1/2) (P = 0.01) and interleukin 1 receptor antagonistA (1/1) (P = 0.03).
More case-control studies on interleukin 1 receptor antagonist rs2234663 polymorphism and gene expression from different ethnic populations are required to explore the impact of interleukin 1 receptor antagonist in vitiligo susceptibility.
Interleukin 1 receptor antagonist*A2 might be a risk factor for progressive vitiligo.
白癜风是一种由黑素细胞选择性破坏引起的多因素、多基因自身免疫性皮肤病。白细胞介素1受体拮抗剂内含子2多态性被发现与多种自身免疫性疾病有关。
我们旨在研究白细胞介素1受体拮抗剂内含子2串联重复序列可变数目多态性（rs2234663）与白癜风的关联，评估白细胞介素1受体拮抗剂转录水平，并进行可能的基因型-表型相关性分析。
307例白癜风患者和316例对照纳入本研究，采用聚合酶链反应对白细胞介素1受体拮抗剂rs2234663进行基因分型，并通过实时定量聚合酶链反应对患者（n = 36）和对照（n = 36）外周血单个核细胞中白细胞介素1受体拮抗剂的相对基因表达进行检测。
活动期和稳定期白癜风患者白细胞介素1受体拮抗剂A（1/2）基因型频率存在显著差异（P = 0.0172）。SV患者与对照之间白细胞介素1受体拮抗剂A（2/2）基因型和等位基因频率存在显著差异（分别为P = 0.0246和P = 0.0046）。活动期和稳定期白癜风患者白细胞介素1受体拮抗剂A2（等位基因）也存在显著差异（P = 0.0060）。然而，其他比较在基因型和等位基因频率上未显示任何显著差异。此外，白细胞介素1受体拮抗剂A（3/2）基因型仅在患者中观察到，而白细胞介素1受体拮抗剂A（5/2）仅在对照中观察到。基因表达分析显示患者与对照相比白细胞介素1受体拮抗剂转录水平无显著差异（P = 0.5962）。有趣的是，基因型-表型相关性分析显示，与其他主要基因型白细胞介素1受体拮抗剂A（1/2）（P = 0.01）和白细胞介素1受体拮抗剂A（1/1）（P = 0.03）相比，IL1RNA（2/2）个体的白细胞介素1受体拮抗剂表达更高。
需要更多关于不同种族人群白细胞介素1受体拮抗剂rs2234663多态性和基因表达的病例对照研究，以探讨白细胞介素1受体拮抗剂在白癜风易感性中的作用。
白细胞介素1受体拮抗剂*A2可能是进展期白癜风的一个危险因素。
