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

Abstract

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/G(1229), C/G(3444), G/A(3944), CC(20965), CC(30056), F/f(30875), C/T(48200), T/t(65013)) with outcome or disability. ff(30875) frequency was lower in cases with EDSS > or = 6.0 than with scores < 6.0 (odds ratio = 0.38, 95% CI = 0.20-0.70). The association of ff(30875) 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).

Multiple sclerosis, osteoporosis, and vitamin D

“…In 512 patients with MS of at least 10 years duration, study of outcome or disability with the association of VDR single nucleotide polymorphisms (A/G(1229), C/G (3444), G/A(3944), CC(20965), CC(30056), F/f(30875), C/T(48200), T/t (65013)), showed that ff (30875) frequency was lower in cases with EDSS > or = 6.0 than with scores< 6.0 [52].…”

Vitamin D and Multiple Sclerosis

“…The short VDR encoded by the FokI f variant reportedly has higher transcriptional activation function [119,120]. In British populations, the Fok1 Fencoded long VDR was associated with higher MS risk in males, but not females [121], whereas the FokI f -encoded short VDR was associated with reduced disability a decade after disease onset [122].…”

Environmental Risk Factors for Multiple Sclerosis: A Review with a Focus on Molecular Mechanisms

“…The evidence for an association between the development of MS and polymorphisms in the VDR is mixed, with some finding an association [127–129] but others finding no association [125,126,130–132]. In addition, interactions between VDR polymorphisms and HLA-DR15 [133], exposure to sunlight [130] or dietary vitamin D intake [126] have been observed, but these have not yet been confirmed.…”