（rs1800896）和（rs1800925）与印度南部人群非节段性白癜风易感性无关。

Lack of association of (rs1800896) and (rs1800925) with non-segmental vitiligo susceptibility in South Indian population.

机构信息

Department of Biochemistry, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

出版信息

Indian J Dermatol Venereol Leprol. 2020 Sep-Oct;86(5):489-498. doi: 10.4103/ijdvl.IJDVL_124_19.

DOI:10.4103/ijdvl.IJDVL_124_19

PMID:32295963

Abstract

BACKGROUND

Vitiligo is an autoimmune depigmentation disorder caused by multiple etiologies. Genetic polymorphisms in cytokine genes influence their expression and augment disease development. Analyzing the influence of genetic polymorphisms will help in better understanding of the complex etiopathogenesis of vitiligo.

AIM

To study the influence of interleukin IL-10 (rs1800896) and IL-13 (rs1800925) polymorphisms on vitiligo risk in South Indian population.

METHODS

Two hundred and sixty-four vitiligo patients and 264 controls were recruited in this study. Genotyping was done by quantitative PCR and plasma cytokine levels were measured by ELISA.

RESULTS

Allele frequencies of IL-10 (rs1800896) and IL-13 (rs1800925) SNPs were observed to be equal in the groups. Mutant allele G of IL-10 (rs1800896) enhanced the familial inheritance of vitiligo (P < 0.0001, OR-25.1, 95% CI-7.64-82.7) and influenced the development of vulgaris type of vitiligo (P = 0.034, OR-1.83, 95% CI-1.07-3.13). Ancestral allele A of IL-10 (rs1800896) conferred protection against development of acrofacial vitiligo (P = 0.04, OR-0.56, 95% CI-0.33-0.95). Circulatory IL-10 levels in vitiligo patients were higher than controls (P < 0.0001). Individuals with genotype GG of IL-10 (rs1800896) had the highest circulatory levels of IL-10 (P < 0.0001). Among the genotypes of IL-13 (rs1800925) variant, none influenced the phenotype of nonsegmental vitiligo such as gender, family history, age of onset and types of vitiligo (P > 0.05). In addition, no difference was noted in the circulatory levels of IL-13 between patients and controls (P = 0.48). Within patients, CC genotype of IL-13 (rs1800925) was observed to enhance the circulatory IL-13 levels (P < 0.0001).

LIMITATION

Replication group analysis in a larger multicentric cohort in future would validate further understanding of vitiligo susceptibility in South Indian ethnics.

CONCLUSION

IL-10 (rs1800896) and IL-13 (rs1800925) polymorphisms did not confer risk to develop vitiligo in South Indian population.

摘要

背景

白癜风是一种由多种病因引起的自身免疫性脱色素疾病。细胞因子基因的遗传多态性影响其表达，并增强疾病的发展。分析遗传多态性的影响有助于更好地理解白癜风的复杂发病机制。

目的

研究白细胞介素 IL-10（rs1800896）和 IL-13（rs1800925）基因多态性对印度南部人群白癜风发病风险的影响。

方法

本研究纳入了 264 例白癜风患者和 264 例对照。采用实时定量 PCR 进行基因分型，ELISA 法检测血浆细胞因子水平。

结果

IL-10（rs1800896）和 IL-13（rs1800925）SNP 的等位基因频率在两组间无差异。IL-10（rs1800896）的突变等位基因 G 增强了白癜风的家族遗传（P<0.0001，OR-25.1，95%CI-7.64-82.7），并影响了寻常型白癜风的发生（P=0.034，OR-1.83，95%CI-1.07-3.13）。IL-10（rs1800896）的祖先等位基因 A 对肢端型白癜风的发生具有保护作用（P=0.04，OR-0.56，95%CI-0.33-0.95）。白癜风患者的循环 IL-10 水平高于对照组（P<0.0001）。IL-10（rs1800896）基因型 GG 的个体具有最高的循环 IL-10 水平（P<0.0001）。在 IL-13（rs1800925）变异的基因型中，没有一个影响非节段性白癜风的表型，如性别、家族史、发病年龄和白癜风类型（P>0.05）。此外，患者和对照组之间的循环 IL-13 水平无差异（P=0.48）。在患者中，IL-13（rs1800925）的 CC 基因型观察到增强循环 IL-13 水平（P<0.0001）。