Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease Risk?

Polyxeni Stamati; Vasileios Siokas; Athina-Maria Aloizou; Emmanouil Karampinis; Stylianos Arseniou; Valerii N Rakitskii; Aristidis Tsatsakis; Demetrios A Spandidos; Illana Gozes; Panayiotis D Mitsias; Dimitrios P Bogdanos; Georgios M Hadjigeorgiou; Efthimios Dardiotis

doi:10.1007/s12031-019-01363-3

Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease Risk?

J Mol Neurosci. 2019 Oct;69(2):343-350. doi: 10.1007/s12031-019-01363-3. Epub 2019 Jul 2.

Authors

Affiliations

¹ Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
² The Federal Budgetary Establishment of Science "Federal Scientific Center of Hygiene named after F. F. Erisman" of the Federal Service for Surveillance on Consumer Rights Protection and Human Wellbeing, 2 Semashko Street, Mytishchi, Moscow Oblast, Russian Federation, 141014.
³ Laboratory of Toxicology, School of Medicine, University of Crete, 71003, Heraklion, Greece.
⁴ Laboratory of Clinical Virology, Medical School, University of Crete, 71409, Heraklion, Greece.
⁵ The Lily and Avraham Gildor Chair for the Investigation of Growth Factors, The Elton Laboratory for Molecular Neuroendocrinology, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Sagol School of Neuroscience and Adams Super Center for Brain Studies, Tel Aviv University, 69978, Tel Aviv, Israel.
⁶ Department of Neurology, School of Medicine, University of Crete, 71003, Heraklion, Greece.
⁷ Department of Rheumatology and Clinical Immunology, University General Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Viopolis, 40500, Larissa, Greece.
⁸ Cellular Immunotherapy & Molecular Immunodiagnostics, Biomedical Section, Centre for Research and Technology-Hellas (CERTH)-Institute for Research and Technology-Thessaly (IRETETH), 41222, Larissa, Greece.
⁹ Department of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus.
¹⁰ Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece. edar@med.uth.gr.

PMID: 31267315
DOI: 10.1007/s12031-019-01363-3

Abstract

Α number of genetic variants have been associated with Alzheimer's disease (AD) susceptibility. Sec1 family domain-containing protein 1 (SCFD1) gene polymorphism rs10139154 has recently been implicated in the risk of developing amyotrophic lateral sclerosis (ALS). Similarities in the pathogenetic cascade of both diseases have also been described. The present study was designed to evaluate the possible contribution of SCFD1 rs10139154 to AD. A total of 327 patients with AD and an equal number of healthy controls were included in the study and genotyped for rs10139154. With logistic regression analyses, rs10139154 was examined for the association with the risk of developing AD. In the recessive mode, SCFD1 rs10139154 was associated with a decreased risk of developing AD (odds ratio (OR) (95% confidence interval (CI)) = 0.63 (0.40-0.97), p = 0.036). The current study provides preliminary evidence of the involvement of SCFD1 rs10139154 in the risk of developing AD.

Keywords: AD; Genetics; Polymorphism; SCFD1; SNPs.

MeSH terms

Adaptor Proteins, Vesicular Transport / genetics*
Aged
Aged, 80 and over
Alzheimer Disease / genetics*
Female
Humans
Male
Polymorphism, Single Nucleotide*

Substances

Adaptor Proteins, Vesicular Transport
SCFD1 protein, human

Grants and funding

This study was supported in part by a research grant from the Research Committee of the University of Thessaly, Greece (code: 5287)./This study was supported in part by a research grant from the Research Committee of the University of Thessaly, Greece (code: 5287).