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

Amyotrophic lateral sclerosis (ALS) 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 ALS. Moreover, it has been reported to influence the a...

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Autores principales: Siokas, Vasileios, Aloizou, Athina-Maria, Liampas, Ioannis, Bakirtzis, Christos, Nasios, Grigorios, Paterakis, Konstantinos, Sgantzos, Markos, Bogdanos, Dimitrios P., Spandidos, Demetrios A., Tsatsakis, Aristidis, Mitsias, Panayiotis D., Dardiotis, Efthimios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915390/
https://www.ncbi.nlm.nih.gov/pubmed/35234271
http://dx.doi.org/10.3892/mmr.2022.12662
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author Siokas, Vasileios
Aloizou, Athina-Maria
Liampas, Ioannis
Bakirtzis, Christos
Nasios, Grigorios
Paterakis, Konstantinos
Sgantzos, Markos
Bogdanos, Dimitrios P.
Spandidos, Demetrios A.
Tsatsakis, Aristidis
Mitsias, Panayiotis D.
Dardiotis, Efthimios
author_facet Siokas, Vasileios
Aloizou, Athina-Maria
Liampas, Ioannis
Bakirtzis, Christos
Nasios, Grigorios
Paterakis, Konstantinos
Sgantzos, Markos
Bogdanos, Dimitrios P.
Spandidos, Demetrios A.
Tsatsakis, Aristidis
Mitsias, Panayiotis D.
Dardiotis, Efthimios
author_sort Siokas, Vasileios
collection PubMed
description Amyotrophic lateral sclerosis (ALS) 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 ALS. 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 ALS. For this purpose, 155 patients with sporadic ALS 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 ALS; ii) the AAO of ALS; iii) the site of ALS onset (patients with bulbar onset ALS vs. healthy controls; and patients with limb onset ALS vs. healthy controls); and iv) the AAO of ALS 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 ALS.
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spelling pubmed-89153902022-03-14 Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis Siokas, Vasileios Aloizou, Athina-Maria Liampas, Ioannis Bakirtzis, Christos Nasios, Grigorios Paterakis, Konstantinos Sgantzos, Markos Bogdanos, Dimitrios P. Spandidos, Demetrios A. Tsatsakis, Aristidis Mitsias, Panayiotis D. Dardiotis, Efthimios Mol Med Rep Articles Amyotrophic lateral sclerosis (ALS) 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 ALS. 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 ALS. For this purpose, 155 patients with sporadic ALS 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 ALS; ii) the AAO of ALS; iii) the site of ALS onset (patients with bulbar onset ALS vs. healthy controls; and patients with limb onset ALS vs. healthy controls); and iv) the AAO of ALS 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 ALS. D.A. Spandidos 2022-04 2022-03-01 /pmc/articles/PMC8915390/ /pubmed/35234271 http://dx.doi.org/10.3892/mmr.2022.12662 Text en Copyright: © Siokas et al. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Siokas, Vasileios
Aloizou, Athina-Maria
Liampas, Ioannis
Bakirtzis, Christos
Nasios, Grigorios
Paterakis, Konstantinos
Sgantzos, Markos
Bogdanos, Dimitrios P.
Spandidos, Demetrios A.
Tsatsakis, Aristidis
Mitsias, Panayiotis D.
Dardiotis, Efthimios
Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
title Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
title_full Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
title_fullStr Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
title_full_unstemmed Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
title_short Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
title_sort lack of an association between scfd1 rs10139154 polymorphism and amyotrophic lateral sclerosis
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915390/
https://www.ncbi.nlm.nih.gov/pubmed/35234271
http://dx.doi.org/10.3892/mmr.2022.12662
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