Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis

Abstract

Amyotrophic lateral sclerosis (AL S) is a progressive neurodegenerative disease. Through a genome-wide association study (GWAS), the Sec1 family domain-containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged as a risk factor gene for AL S. Moreover, it has been reported to influence the age at onset (AAO) of patients with ALS. The aim of the present study was to assess the association of the SCFD1 rs10139154 polymorphism with the risk of developing AL S. For this purpose, 155 patients with sporadic AL S and 155 healthy controls were genotyped for the SCFD1 rs10139154. The effect of the SCFD1 rs10139154 polymorphism was then examined on the following parameters: I) The risk of developing AL S; ii) the AAO of AL S; iii) the site of AL S onset (patients with bulbar onset AL S vs. healthy controls; and patients with limb onset AL S vs. healthy controls); and iv) the AAO of AL S onset with subgroup analyses based on the site of onset (bulbar and limb, crude and adjusted for sex). The analysis of all the outcomes was performed assuming five genetic models. Crude and adjusted analyses were applied. The threshold for statistical significance was set at 0.05. The results revealed no association between SCFD1 rs10139154 and any of the examined phenotypes in any of the models examined. On the whole, based on the findings of the present study, SCFD1 rs10139154 does not appear to play a determining role in the risk of developing AL S. © 2022 Spandidos Publications. All rights reserved.