6533b833fe1ef96bd129b835

RESEARCH PRODUCT

Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients

Chiara BelliaPaolo RagoneseG MussoB Lo SassoLuisa AgnelloMarcello CiaccioRosaria SchillaciConcetta ScazzoneGiuseppe Salemi

subject

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisGenotypeVDR polymorphismsDermatologyCalcitriol receptor25(OH)D; Multiple sclerosis; VDR polymorphisms; Vitamin D; Adult; Female; Gene Frequency; Genotype; Humans; Male; Middle Aged; Multiple Sclerosis; Receptors Calcitriol; Sicily; Vitamin D; Polymorphism Restriction Fragment Length03 medical and health sciences0302 clinical medicineGene FrequencyCalcitriolInternal medicineGenotypeReceptorsmedicineGenetic predispositionVitamin D and neurologyHumansMultiple sclerosiAlleleVitamin DPolymorphismAllele frequencySicilyVDR25(OH)Dbusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseVitamin D 25(OH)DPsychiatry and Mental healthSettore BIO/12 - Biochimica Clinica E Biologia Molecolare Clinica030104 developmental biologyEndocrinologyRestriction Fragment LengthImmunologyReceptors CalcitriolSettore MED/26 - NeurologiaFemaleNeurology (clinical)Restriction fragment length polymorphismbusiness030217 neurology & neurosurgeryPolymorphism Restriction Fragment Length

description

Multiple sclerosis (MS) is an auto-immune disease whose etiology remains controversial. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of our study was to assess the association of Vitamin D receptor (VDR) polymorphisms with MS and to investigate the interaction of these polymorphisms with vitamin D levels. A total of 179 Sicilian subjects, including 104 MS patients and 75 healthy controls, were studied. The most common VDR polymorphisms (Fok-I, Bsm-I, Taq-I and Apa-I) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyvitamin D [25(OH)D] levels were determined in MS patients by high-performance liquid chromatography (HPLC). The distribution of genotype and allele frequencies of the four VDR polymorphisms did not differ significantly between MS patients and healthy controls, and were unrelated to the forms and the course of MS. Low serum levels of 25(OH)D were observed in MS patients but no association was observed between VDR and 25(OH)D levels except for Fok-I. Moreover, MS patients with FF and Ff genotype had a significantly lower serum levels of 25(OH)D compared with ff carriers (P < 0.05 FF vs Ff and Ff vs ff). Our findings showed no association between VDR polymorphisms and risk of MS. Interestingly, F allele could confer a genetic predisposition to lower 25(OH)D levels.

yearjournalcountryeditionlanguage
2016-01-01
10.1007/s10072-015-2401-0http://hdl.handle.net/11577/3396170