Vitamin D3 Receptor (VDR) Gene rs2228570 (Fok1) and rs731236 (Taq1) Variants Are Not Associated with the Risk for Multiple Sclerosis: Results of a New Study and a Meta-Analysis

被引：50

作者：

Garcia-Martin, Elena ^{[1
]}

Agundez, Jose A. G. ^{[2
]}

Martinez, Carmen ^{[1
]}

Benito-Leon, Julian ^{[3
,4
,5
]}

Millan-Pascual, Jorge ^{[6
]}

Calleja, Patricia ^{[4
,5
]}

Diaz-Sanchez, Maria ^{[4
,5
]}

Pisa, Diana ^{[7
]}

Turpin-Fenoll, Laura ^{[6
]}

Alonso-Navarro, Hortensia ^{[6
,8
,9
]}

Ayuso-Peralta, Lucia ^{[8
]}

Torrecillas, Dolores ^{[8
]}

Francisco Plaza-Nieto, Jose ^{[9
]}

Javier Jimenez-Jimenez, Felix ^{[8
,9
]}

机构：

[1] Univ Extremadura, Dept Biochem & Mol Biol, Caceres, Spain

[2] Univ Extremadura, Dept Pharmacol, Caceres, Spain

[3] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

[4] Hosp Univ Doce Octubre, Serv Neurol, Madrid, Spain

[5] Univ Complutense, Dept Med, E-28040 Madrid, Spain

[6] Hosp La Mancha Ctr, Neurol Sect, Ciudad Real, Spain

[7] Univ Autonoma Madrid, Fac Ciencias, Ctr Biol Mol Severo Ochoa, E-28049 Madrid, Spain

[8] Univ Alcala, Hosp Principe Asturias, Dept Med Neurol, Madrid, Spain

[9] Hosp Univ Sureste, Neurol Sect, Madrid, Spain

来源：

PLOS ONE | 2013年 / 8卷 / 06期

关键词：

D METABOLISM; POLYMORPHISMS; SUSCEPTIBILITY;

D O I：

10.1371/journal.pone.0065487

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Background: Some 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. Objectives: The 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. Methods: We 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 Ramon 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. Conclusions: These 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.

引用

页数：11

共 30 条

[1] Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals [J].