eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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SCImago Journal & Country Rank
4/2020
vol. 16
 
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Neurology
abstract:
Clinical research

Klotho and vitamin D in multiple sclerosis: an Italian study

Concetta Scazzone
1
,
Luisa Agnello
1
,
Bruna Lo Sasso
1
,
Paolo Ragonese
2
,
Giulia Bivona
1
,
Sabrina Realmuto
2
,
Giorgia Iacolino
1
,
Caterina Maria Gambino
1
,
Chiara Bellia
1
,
Giuseppe Salemi
2
,
Marcello Ciaccio
1, 3

1.
Department of Biomedicine, Neuroscience, and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Laboratory Medicine, University of Palermo, Palermo, Italy
2.
Department of Experimental Biomedicine and Neuroscience, University of Palermo, Palermo, Italy
3.
Department of Laboratory Medicine, University-Hospital, Palermo, Italy
Arch Med Sci 2020; 16 (4): 842–847
Online publish date: 2019/08/02
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Introduction
Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental factors. Polymorphisms in genes codifying molecules involved in vitamin D homeostasis have been associated with hypovitaminosis D. However, the influence of polymorphisms of Klotho, which codify a protein with a pivotal role in vitamin D metabolism, have never been investigated. The aim of this study was to evaluate the association among genetic variants of Klotho, namely rs1207568 and rs9536314, serum 25(OH)D3 levels, and multiple sclerosis (both risk and disease progression).

Material and methods
107 patients with MS and 133 healthy controls were enrolled in this study. Serum 25(OH)D3 levels and genotyping of Klotho SNPs were evaluated in all participants by high-performance liquid chromatography and real-time polymerase chain reaction, respectively.

Results
Allelic and genotypic frequencies did not differ between patients and controls. Concerning rs1207568, we found a trend toward lower serum 25(OH)D3 levels in MS patients with A allele (mutant), both in heterozygosis (AG) and in homozygosis (AA), in comparison to MS patients with G allele in homozygosis (GG) (AG + AA 20.5 ±6.3 µg/l; GG 22.5 ±7.5 µg/l, p = 0.07).

Conclusions
Our findings did not identify a role of Klotho in the genetic susceptibility to MS.

keywords:

vitamin D, Klotho, genetic, multiple sclerosis

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