Interleukin-6 (IL6) is involved in pathogenesis of several autoimmune disorders including vitiligo. Hence, we aimed to investigate the association of IL6 −174 G/C and −572 G/C polymorphisms and its transcript levels with vitiligo; to evaluate the effect of IL-6 on normal human melanocyte (NHM) viability and expression of IL6R, MITF and TYR. IL6 -174 G/C and −572 G/C polymorphisms were genotyped by ARMS-PCR and PCR-RFLP respectively in 343 controls and 322 vitiligo patients. IL6 transcript levels were estimated from PBMCs (96 controls and 77 patients) and skin samples (15 controls and 15 patients) by qPCR. NHM viability was assessed by MTT; IL6R, MITF and TYR transcript and protein levels were monitored by qPCR and ICC respectively. Genetic analyses revealed no association of IL6 −174 G/C polymorphism (p> .05) with vitiligo. Analysis of IL6 −572 G/C revealed reduced risk of vitiligo in individuals with GC/CC genotypes compared to GG genotype (p = .010). IL6 expression was significantly increased (p = .0197) in PBMCs of patients. Further, IL6 expression was significantly higher in non-lesional skin compared to controls (p = .009). In-vitro NHM viability was decreased upon IL-6 exposure (10-50 ng/ml; p< .05), with significantly increased IL6R transcript (p = .042) and protein levels (p = .003) however, MITF transcript (p = .0003) and protein levels (p = .016), and TYR transcript levels (p = .001) were significantly decreased. The results suggest that IL6 −572 G/C polymorphism might be associated with vitiligo susceptibility in Gujarat population. Moreover, increased IL6 expression in vitiligo patients and its effect on NHM suggest a potential role in melanocyte biology.

Conclusion

The results suggest that IL6 − 572 G/C polymorphism might be associated with vitiligo susceptibility in Gujarat population. Moreover, increased IL6 expression in vitiligo patients and its effect on NHM suggest a potential role in melanocyte biology.

中文翻译：

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研究白细胞介素 6 在白癜风发病机制中的作用。

白细胞介素 6 (IL6) 与包括白癜风在内的多种自身免疫性疾病的发病机制有关。因此，我们旨在研究 IL6 -174 G/C 和 -572 G/C 多态性及其转录水平与白癜风的关联。评估 IL-6 对正常人黑素细胞 (NHM) 活力和 IL6R、MITF 和 TYR 表达的影响。IL6 -174 G/C 和 -572 G/C 多态性分别通过 ARMS-PCR 和 PCR-RFLP 对 343 名对照和 322 名白癜风患者进行基因分型。通过 qPCR 从 PBMC（96 名对照和 77 名患者）和皮肤样本（15 名对照和 15 名患者）估计 IL6 转录水平。NHM 活力通过 MTT 评估；IL6R、MITF 和 TYR 转录物和蛋白质水平分别通过 qPCR 和 ICC 监测。遗传分析显示 IL6 -174 G/C 多态性 (p> .05) 与白癜风无关。IL6 -572 G/C 分析显示，与 GG 基因型相比，GC/CC 基因型个体的白癜风风险降低（p = .010）。患者 PBMC 中的 IL6 表达显着增加 (p = .0197)。此外，与对照组相比，非损伤皮肤中的 IL6 表达显着更高 (p = .009)。IL-6 暴露后体外 NHM 活力降低（10-50 ng/ml；p<.05），但 IL6R 转录物（p = .042）和蛋白质水平（p = .003）显着增加，但 MITF 转录物(p = .0003) 和蛋白质水平 (p = .016) 和 TYR 转录物水平 (p = .001) 显着降低。结果表明，IL6 -572 G/C 多态性可能与古吉拉特邦人群的白癜风易感性有关。而且，

结论

结果表明IL6 - 5 72 G/C 多态性可能与古吉拉特邦人群的白癜风易感性有关。此外，白癜风患者中IL6表达增加及其对 NHM 的影响表明在黑素细胞生物学中具有潜在作用。