title: VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients.
abstract: Multiple sclerosis (MS) is a chronic demyelinating disease of central nervous system regarded as one of the most common causes of neurological disability in young adults. The exact etiology of MS is not yet known, although epidemiological data indicate that both genetic susceptibility and environmental exposure are involved. A poor vitamin D status has been proposed as the most attractive environmental factor. Several evidence have highlighted the importance of mutations in vitamin D-regulating genes for vitamin D status. The purpose of our study was to assess the genetic variants of VDBP and CYP27B1 in MS patients and in a control group. A total of 192 subjects, including 100 MS patients and 92 healthy controls, were genotyped by polymerase chain reaction followed by restriction fragment length polymorphism analyses. Serum 25-hydroxyvitamin D levels were measured in MS patients and controls by high-performance liquid chromatography. We did not observe any statically significant difference in the distribution of genotypic VDBP variants between the study groups. 25(OH)D plasma levels were significantly higher in the control group versus MS patients; MS patients who carried Gc2 showed lower 25(OH)D plasma levels and those who carried Gc1f showed higher levels. We observed only wild-type allele for CYP27B1 mutations analyzed both in MS patients and in the control group. In conclusion, our findings do not support a role of an independent effect of the investigated vitamin D-related gene variants, VDBP and CYP27B1, in the risk of MS.
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Agnello
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Scazzone
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Lo Sasso
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bellia
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Bivona
authors.affiliation: Dipartimento di Biomedicina Sperimentale e Neuroscienze, Università di Palermo, Palermo, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Realmuto
authors.affiliation: Dipartimento di Biomedicina Sperimentale e Neuroscienze, Università di Palermo, Palermo, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Brighina
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Schillaci
authors.affiliation: Dipartimento di Biomedicina Sperimentale e Neuroscienze, Università di Palermo, Palermo, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Ragonese
authors.affiliation: Dipartimento di Biomedicina Sperimentale e Neuroscienze, Università di Palermo, Palermo, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Salemi
authors.affiliation: Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy. marcello.ciaccio@unipa.it.
authors.forename: Marcello
authors.initials: M
authors.lastname: Ciaccio
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000097:blood / Q000235:genetics; D011110:Polymorphism, Genetic; D012802:Sicily; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood; D014809:Vitamin D-Binding Protein / Q000235:genetics* / Q000378:metabolism
chemical_list: D014809:Vitamin D-Binding Protein; D014807:Vitamin D; C104450:25-hydroxyvitamin D; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase; C000600378:CYP27B1 protein, human
keywords: 25(OH)D; CYP27B1; Multiple sclerosis; VDBP polymorphism; Vitamin D