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首页> 外文期刊>Archives of Dermatological Research >Functional polymorphisms in cell death pathway genes FAS and FAS ligand and risk of alopecia areata
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Functional polymorphisms in cell death pathway genes FAS and FAS ligand and risk of alopecia areata

机译:细胞死亡途径基因FAS和FAS配体的功能多态性与斑秃的风险

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FAS and FAS ligand (FASLG) are important proapoptotic proteins that have a significant function in regulating cell growth and apoptosis and play essential roles in many human autoimmune diseases. Alopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease mediated by T cells to the hair follicles. The concept of an autoimmune mechanism as the basis for AA led us to investigate a possible association between the FAS and FASLG polymorphism with AA susceptibility and disease progression on AA patients in Turkish population. The study group consisted of 118 unrelated patients with AA and 118 unrelated healthy controls. We genotyped FAS−670 A/G and FASLG−124 A/G polymorphisms and assessed their association with AA risk. A statistically significant difference was observed between patients and controls according to genotype frequencies of FAS gene (p = 0.0002). GG genotype of 670 A/G polymorphism was found to be protective against AA (p = 0.000, OR 0.07, 95 % CI 0.00–0.41). It can be concluded there is a reduced risk of AA risk appeared to be associated with FAS−670 A/G. No association was observed between AA patients and controls according to genotype and allele distribution of FASLG gene 124 A/G polymorphism (p = 0.1297, p = 453, respectively). In conclusion, we provide evidence that FAS/FASLG polymorphisms may have an effect on the risk of AA in the Turkish population. These findings provide an additional support to a genetic basis for AA development.
机译:FAS和FAS配体(FASLG)是重要的促凋亡蛋白,在调节细胞生长和凋亡中具有重要功能,并且在许多人类自身免疫性疾病中起重要作用。斑秃(AA)被认为是由T细胞介导的毛囊介导的器官特异性自身免疫性疾病。自身免疫机制作为AA的基础的概念使我们研究了土耳其人群中AA患者的FAS和FASLG多态性与AA易感性和疾病进展之间的可能联系。该研究组由118名与AA无关的患者和118名与健康无关的对照组组成。我们对FAS-670 A / G和FASLG-124 A / G多态性进行了基因分型,并评估了它们与AA风险的相关性。根据FAS基因的基因型频率,在患者和对照组之间观察到统计学上的显着差异(p = 0.0002)。 670 A / G多态性的GG基因型被发现可以抵抗AA(p = 0.000,OR 0.07,95%CI 0.00-0.41)。可以得出结论,与FAS-670 A / G相关的AA风险降低。根据FASLG基因124 A / G多态性的基因型和等位基因分布,未在AA患者和对照之间发现关联(分别为p = 0.1297,p = 453)。总之,我们提供的证据表明,FAS / FASLG多态性可能会影响土耳其人群AA的风险。这些发现为机管局发展的遗传基础提供了额外的支持。

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