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The Impact of TRAIL (C1595T and G1525A) and DR4 (rs20576) Gene Polymorphisms on Systemic Lupus Erythematosus.
Biochemical Genetics ( IF 2.1 ) Pub Date : 2020-04-27 , DOI: 10.1007/s10528-020-09966-x
Mahnaz Sandoughi 1 , Saeedeh Salimi 2, 3 , Hossein Shahraki-Ghadimi 4 , Mohsen Saravani 2, 3
Affiliation  

Apoptosis dysregulation is a distinct hallmark of several disorders like systemic lupus erythematosus (SLE). In fact, SLE has two special features for apoptosis: irregular apoptosis and decline in clearing of apoptotic bodies. Tumor Necrosis Factor (TNF)-Related Apoptosis-Inducing Ligand (TRAIL) is a death ligand that causes to apoptosis via attaching to its receptors such as death receptor-4 (DR4). The present study aimed to evaluate the effects of TRAIL G1525A and C1595T and DR4 A683C (rs20576) gene polymorphisms on SLE development. 160 SLE patients and 160 healthy individuals as the control group participated in the study. Genotype analysis was performed using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). With regard to TRAIL (C1595T) polymorphism, the frequency of CT genotype was significantly higher in the case group than the control with 3-fold increase in SLE development risk (P = 0.0001). Furthermore, the frequency of the TT genotype also was higher in the case group than the control group with 3.2-fold increase in SLE development risk. The allelic distribution analysis defined the T allele as a risk factor for SLE development (P = 0.0001). The frequency of AA genotype and allele A of TRAIL (G1525A) polymorphism also was statistically higher in the case group than the control group (P = 0.0001). There was no significant association between DR4 rs20576 polymorphism and SLE development. TRAIL C1595T and G1525A gene polymorphisms are suggested as the risk factors for SLE development, although the results showed no association between DR4 rs20576 polymorphism and SLE.

中文翻译:

TRAIL(C1595T和G1525A)和DR4(rs20576)基因多态性对系统性红斑狼疮的影响。

凋亡失调是几种疾病(如系统性红斑狼疮(SLE))的明显标志。实际上,SLE具有两个特殊的凋亡特征:不规则凋亡和凋亡小体清除率下降。肿瘤坏死因子(TNF)相关的凋亡诱导配体(TRAIL)是一种死亡配体,通过与死亡受体4(DR4)等受体结合而导致凋亡。本研究旨在评估TRAIL G1525A和C1595T和DR4 A683C(rs20576)基因多态性对SLE发育的影响。160例SLE患者和160例健康个体作为对照组参加了研究。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行基因型分析。关于TRAIL(C1595T)多态性,P  = 0.0001)。此外,病例组的TT基因型频率也高于对照组,SLE发生风险增加了3.2倍。等位基因分布分析将T等位基因定义为SLE发展的危险因素(P  = 0.0001)。病例组的AA基因型频率和TRAIL(G1525A)多态性等位基因A的频率在统计学上也高于对照组(P  = 0.0001)。DR4 rs20576多态性与SLE发育之间无显着关联。尽管结果显示DR4 rs20576多态性与SLE之间没有关联,但TRAIL C1595T和G1525A基因多态性被认为是SLE发生的危险因素。
更新日期:2020-04-27
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