Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Faculty of Medicine, University of Thessaly, 41100 Larissa, Greece.
B' Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Medicina (Kaunas). 2021 Dec 7;57(12):1337. doi: 10.3390/medicina57121337.
: To date, only one study has investigated the association between the polymorphism of the locus and Amyotrophic Lateral Sclerosis (ALS). : A case-control study was performed. Patients with definite sporadic ALS were prospectively and consecutively recruited from the inpatient and outpatient clinics of the Neurology Department of the General University Hospital of Larissa, Central Greece. Community based, age and sex matched healthy individuals with a free personal and family history constituted the control group. : A total of 155 patients with definite sporadic ALS and an equal number of healthy controls were genotyped. The power of our sample size was slightly above 80% and was determined to be in Hardy-Weinberg Equilibrium among healthy participants ( = 1.00). According to the univariate analysis, there was no significant relationship between and ALS [log-additive OR = 0.85 (0.61, 1.19), over-dominant OR = 0.73 (0.46, 1.15), recessive OR = 1.02 (0.50, 2.09), dominant OR = 0.74 (0.47, 1.16), co-dominant OR = 0.71 (0.44, 1.14) and co-dominant OR = 0.88 (0.42, 1.84). Additionally, the effect of on the age of ALS onset was determined insignificant using both unadjusted and adjusted (sex, site of onset) cox-proportional models. Finally, was not related to the site of ALS onset. : Our study is the first to report the absence of an association between and ALS among individuals of Greek ancestry. Additional, larger nationwide and multi-ethnic studies are warranted to shed light on the connection between and ALS.
迄今为止，仅有一项研究调查了 基因座多态性与肌萎缩侧索硬化症（ALS）之间的关联。该研究是一项病例对照研究。来自希腊中部拉里萨综合大学医院神经内科的住院和门诊患者被前瞻性连续招募为明确的散发性 ALS 患者。社区为基础、年龄和性别匹配的、无个人和家族病史的健康个体为对照组。共对 155 例明确的散发性 ALS 患者和相同数量的健康对照者进行了基因分型。我们的样本量的效力略高于 80%，且健康参与者中 处于 Hardy-Weinberg 平衡（=1.00）。根据单变量分析， 与 ALS 之间无显著相关性[对数相加 OR=0.85（0.61，1.19），过显性 OR=0.73（0.46，1.15），隐性 OR=1.02（0.50，2.09），显性 OR=0.74（0.47，1.16），共显性 OR=0.71（0.44，1.14）和共显性 OR=0.88（0.42，1.84）]。此外，使用未调整和调整（性别、发病部位）Cox 比例风险模型，均确定 对 ALS 发病年龄无影响。最后， 与 ALS 的发病部位无关。我们的研究是第一个报告在希腊人群中 与 ALS 之间不存在关联的研究。需要开展更大规模的全国性和多民族研究，以阐明 与 ALS 之间的联系。
