Department of Neurology, Jagiellonian University College of Medicine, Krakow.
Neurol Neurochir Pol. 2010 May-Jun;44(3):246-50. doi: 10.1016/s0028-3843(14)60038-4.
Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the -A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population.
We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis.
No overall difference in the PON1 -A162G geno-type and allele distribution was seen between cases and controls (all p > 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction.
The results did not show that the -A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease.
散发性肌萎缩侧索硬化症（sALS）是一种破坏性的神经退行性疾病，由复杂的遗传和环境相互作用引起。最近的研究报告了PON1 和 PON2 基因的几个多态性与 sALS 风险之间的关联。本研究的目的是确定人类 PON1 基因启动子区域的-162G 多态性与波兰人群 sALS 风险之间的关联。
我们纳入了 259 例确诊或疑似 sALS 患者（76 例球部起病，183 例肢体起病）和 694 例年龄和性别匹配的健康对照者。ALS 的诊断根据 El Escorial 标准确立。通过单核苷酸多态性实时聚合酶链反应分析研究了多态性。
病例组和对照组之间 PON1-162G 基因型和等位基因分布无总体差异（均 p > 0.05）。然而，与对照组相比，球部起病组的 A 等位基因频率存在差异（p = 0.03），但在 Bonferroni 校正后这种显著性消失了。
结果并未表明 PON1 基因的-162G 多态性是波兰人群 sALS 的危险因素；然而，它可能会影响疾病的球部起病。
