Zawiślak Dorota, Borratyńska Anna, Tomik Barbara, Pera Joanna, Gryz-Kurek Elzbieta, Szczudlik Andrzej
Department of Neurology, Jagiellonian University Medical College, Kraków.
Neurol Neurochir Pol. 2009 Mar-Apr;43(2):121-5.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of multiple and poorly understood aetiopathogenesis. Genetic factors involved in the pathogenesis of sporadic ALS still remain unknown. A candidate gene might be matrix metalloproteinase-9 gene (MMP-9) - a member of the matrix metalloproteinase family capable of degrading elements of the extracellular matrix. Recent data suggest that MMP-9 may be involved in the pathophysiology of ALS. MMP-9 levels and activity are influenced by the -1562 C/T polymorphism of the MMP-9 gene. We have studied the association between the -1562 C/T polymorphism of the MMP-9 gene and the risk of sporadic ALS.
We included 228 patients with a definite or probable diagnosis of sporadic ALS and 428 healthy controls matched for age and sex. The diagnosis of sporadic ALS was established according to El Escorial criteria. The polymorphism was studied by polymerase chain reaction (PCR) and restricted enzyme digestion.
Distribution of genotypes and alleles of the MMP-9 gene between sporadic ALS cases and controls did not differ significantly: C/C - 168 (73.7%) vs. 304 (71.0%), C/T - 53 (23.2%) vs. 118 (27.6%), T/T - 7 (3.1%) vs. 6 (1.4%), respectively and alleles: C - 389 (85.3%) vs. 726 (84.8%), T - 67 (14.7 %) vs. 130 (15.2%), respectively.
The polymorphism -1562 C/T of the MMP-9 gene is not associated with the risk of sporadic amyotrophic lateral sclerosis in the studied population of Polish patients.
肌萎缩侧索硬化症（ALS）是一种病因发病机制复杂且了解甚少的神经退行性疾病。散发性ALS发病机制中涉及的遗传因素仍不清楚。基质金属蛋白酶-9基因（MMP-9）可能是一个候选基因，它是基质金属蛋白酶家族的成员，能够降解细胞外基质成分。最近的数据表明，MMP-9可能参与ALS的病理生理学过程。MMP-9的水平和活性受MMP-9基因-1562 C/T多态性的影响。我们研究了MMP-9基因-1562 C/T多态性与散发性ALS风险之间的关联。
我们纳入了228例确诊或疑似散发性ALS的患者以及428例年龄和性别匹配的健康对照。散发性ALS的诊断根据埃尔埃斯科里亚尔标准确定。通过聚合酶链反应（PCR）和限制性酶切研究该多态性。
散发性ALS病例与对照之间MMP-9基因的基因型和等位基因分布无显著差异：C/C分别为168例（73.7%）对304例（71.0%），C/T分别为53例（23.2%）对118例（27.6%），T/T分别为7例（3.1%）对6例（1.4%）；等位基因：C分别为389个（85.3%）对726个（84.8%），T分别为67个（14.7%）对130个（15.2%）。
在波兰患者的研究人群中，MMP-9基因的-1562 C/T多态性与散发性肌萎缩侧索硬化症的风险无关。
