Abstract
Background and Objectives: To date, only one study has investigated the association between the rs616147 polymorphism of the Myelin-associated Oligodendrocyte Basic Protein (MOBP) locus and Amyotrophic Lateral Sclerosis (ALS). Materials and Methods: 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. Results: 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 MOBP rs616147 was determined to be in Hardy-Weinberg Equilibrium among healthy participants (p = 1.00). According to the univariate analysis, there was no significant relationship between rs616147 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 OR1 = 0.71 (0.44, 1.14) and co-dominant OR2 = 0.88 (0.42, 1.84). Additionally, the effect of rs616147 on the age of ALS onset was determined insignificant using both unadjusted and adjusted (sex, site of onset) cox-proportional models. Finally, rs616147 was not related to the site of ALS onset. Conclusions: Our study is the first to report the absence of an association between MOBP rs616147 and ALS among individuals of Greek ancestry. Additional, larger nationwide and multi-ethnic studies are warranted to shed light on the connection between rs616147 and ALS.
Highlights
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder that mainly affects the upper and lower motor neurons, while about half of the patients present cognitive decline during the course of the disease [1]
Myelin-associated Oligodendrocyte Basic Protein (MOBP) rs616147 was determined to be in Hardy-Weinberg equilibrium (HWE) among healthy participants (p = 1.00)
The functions of MOBP are not yet completely clarified, but it appears to participate in myelin compaction and stabilization, through interactions with a structurally similar protein, myelin basic protein (MBP) [10,34,35]
Summary
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder that mainly affects the upper and lower motor neurons, while about half of the patients present cognitive decline during the course of the disease [1]. The worldwide prevalence of ALS is estimated approximately between 4 and 5 patients per 100,000 individuals, whereas its incidence corresponds to about 1 to 2 new cases per 100,000 person-years [2]. The mean survival of ALS patients is estimated between 2 and 4 years for most populations [2]. About 5–10% of the ALS cases are estimated to be of familial incidence, while the rest of the cases are sporadic [8]. 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.
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