Vitamin D receptor gene polymorphism is associated with reduced disability in multiple sclerosis

• Published in: Multiple sclerosis 2008-11, Vol.14 (9), p.1280-1283
• Main Authors: Mamutse, G, Woolmore, J, Pye, E, Partridge, J, Boggild, M, Young, C, Fryer, A, Hoban, PR, Rukin, N, Alldersea, J, Strange, RC, Hawkins, CP
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Disability Evaluation; Female; Genetic Predisposition to Disease - epidemiology; Haplotypes; Humans; Logistic Models; Male; Medical sciences; Multiple Sclerosis - epidemiology; Multiple Sclerosis - genetics; Multiple Sclerosis - physiopathology; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Neurology; Polymorphism, Single Nucleotide; Receptors, Calcitriol - genetics; Risk Factors; Ultraviolet Rays; Young Adult
• ISSN: 1352-4585; 1477-0970
• DOI: 10.1177/1352458508094643

Ultraviolet radiation (UVR) may contribute to multiple sclerosis (MS) outcome by a mechanism involving vitamin D and the vitamin D receptor (VDR). In 512 patients with MS duration of 10 or more years, we studied the association of VDR single nucleotide polymorphisms (A/G1229, C/G3444, G/A3944, CC20965, CC30056, F/f30875, C/T48200, T/t65013) with outcome or disability. ff30875 frequency was lower in cases with EDSS ≥ 6.0 than with scores < 6.0 (odds ratio = 0.38, 95% CI = 0.20–0.70). The association of ff30875 with outcome was not mediated by cumulative exposure to UVR as assessed by questionnaire; low exposure (odds ratio = 0.42, 95% CI = 0.14–1.34) and high exposure (odds ratio = 0.34, 95% CI = 0.16–0.73).