Abstract
BackgroundSome epidemiological, genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. Data on the possible contribution of several single nucleotide polymorphisms (SNP) in the vitamin D receptor (VDR) gene to the risk for MS are controversial. Several studies suggested an interaction between some SNPs in the VDR gene and HLADRB1*1501 in the risk for MS.ObjectivesThe aim of this study was to investigate a possible influence of the SNPs rs2228570 and rs731236 in the VDR gene in the risk for MS. A secondary objective was to address the possible interactions between VDR genes and HLADRB1*1501.MethodsWe analyzed the allelic and genotype frequency of VDR rs2228570, rs731236, and HLADRB1*1501 (rs3135388) in 303 patients with MS and 310 healthy controls, using TaqMan Assays. We also conducted a meta-analysis, that was carried out by using the software Meta-Disc 1.1.1 (http://www.hrc.es/investigacion/metadisc.html; Unit of Clinical Statistics, Hospital Ramón y Cajal, Madrid, Spain). Heterogeneity between studies in terms of degree of association was tested using the Q-statistic.Results VDR rs2228570 and rs731236 allelic and genotype frequencies did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. HLADRB1*1501 showed a high association with the risk of developing MS 4.76(95% C.I. = 3.14–7.27; p<0.0001). The meta-analysis, after excluding data of one study that was responsible of heterogeneity for rs731236 polymorphism, showed lack of relation of both SNPs with the risk for MS. HLADRB1*1501 showed lack of interaction with VDR rs2228570 and rs731236 in increasing MS risk.ConclusionsThese results suggest that VDR rs2228570 and rs731236 polymorphisms are not related with the risk for MS, and did not confirm interaction between these VDR SNPs and HLADRB1 in the risk for MS.
Highlights
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder with axonal degeneration affecting the Central Nervous system
HLADRB1*1501 showed a high association with the risk of developing multiple sclerosis (MS) 4.76(95% C.I. = 3.14–7.27; p,0.0001)
The meta-analysis, after excluding data of one study that was responsible of heterogeneity for rs731236 polymorphism, showed lack of relation of both single nucleotide polymorphisms (SNP) with the risk for MS
Summary
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder with axonal degeneration affecting the Central Nervous system. Until 2010, 11 GWAS have been conducted in MS, and together with follow-up studies these have confirmed 16 loci with genome-wide significance [6,7]. Many of these common risk variants are located at or near genes with central immunological functions (such as interleukin 2 and 7 receptors, CD58, CD6, CD40, TNFRSF1A and others) and the majority are associated with other autoimmune diseases [6,7]. Genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. Several studies suggested an interaction between some SNPs in the VDR gene and HLADRB1*1501 in the risk for MS
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