Venkatesh Vaibhav, Mendez Deena C, Rajashekar T S, Balakrishna Sharath
Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar, Karnataka, India.
Department of Biochemistry, Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka, India.
Indian J Dermatol. 2022 Mar-Apr;67(2):133-137. doi: 10.4103/ijd.ijd_515_21.
Vitiligo is an autoimmune disorder involving inflammatory damage to melanocytes. genetic variant (rs744166 T > C) increases inflammatory signaling via JAK/STAT pathway.
The purpose of this study was to check whether this translates into an association between vitiligo and gene variant (rs744166 T > C).
This is a case-control study. A total of 56 vitiligo patients and 90 healthy, age and gender-matched volunteers were recruited for the study. The gene variant (rs744166 T > C) was genotyped using the restriction fragment length polymorphism method.
The frequency of the minor allele 'C' was higher in vitiligo patients (72.3%) than in healthy volunteers (57.8%). The difference between the two groups was statistically significant ( = 0.006; OR = 1.9 with 95% CI). The genotypic variant showed the highest association with vitiligo in the dominant model ( = 0.001).
This study shows that the gene variant (rs744166 T > C) is associated with vitiligo. This observation underlines the importance of the JAK/STAT signaling pathway in vitiligo pathogenesis.
白癜风是一种自身免疫性疾病，涉及黑素细胞的炎症性损伤。基因变异（rs744166 T>C）通过JAK/STAT途径增加炎症信号传导。
本研究的目的是检验这是否转化为白癜风与该基因变异（rs744166 T>C）之间的关联。
这是一项病例对照研究。共招募了56名白癜风患者和90名年龄、性别匹配的健康志愿者参与研究。使用限制性片段长度多态性方法对基因变异（rs744166 T>C）进行基因分型。
白癜风患者中次要等位基因“C”的频率（72.3%）高于健康志愿者（57.8%）。两组之间的差异具有统计学意义（P=0.006；OR=1.9，95%CI）。在显性模型中，基因变异与白癜风的关联最为显著（P=0.001）。
本研究表明基因变异（rs744166 T>C）与白癜风有关。这一观察结果强调了JAK/STAT信号通路在白癜风发病机制中的重要性。
