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Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis.
Mult Scler 2012; 18(1):16-22MS

Abstract

BACKGROUND

The environmental influence of sun exposure and vitamin D in particular and its implication with multiple sclerosis (MS) has recently received considerable attention. Current evidence based on genetic and epidemiological studies indicate that vitamin D is implicated in the aetiology of this disease.

METHODS

We examined two common variants in the vitamin D receptor (VDR) gene in 1153 trio families and 726 cases and 604 controls. We also examined epistatic interactions between the VDR SNPs rs731236 and rs2228570 with the tagging single nucleotide polymorphism (SNP) rs3135388 for the HLA-DRB*1501 locus containing a highly conserved vitamin D responsive element within its promoter region.

RESULTS

We found weak evidence for an association between the rs731236C allele and MS, while there was no direct association with rs2228570. When examining the interaction between the VDR gene variations and the DRB1*1501 tagging SNP a more complex relationship was observed. Although the interaction was not statistically significant, there appeared to be a trend of increasing risk of MS in participants who were homozygous for the HLA-DRB1*1501 allele in association with the more active form of the VDR (Fok1).

CONCLUSION

We have identified weak evidence of an association between a common variation within the VDR gene and MS, in the largest study reported to date of this candidate gene. There appears to be a relationship between polymorphisms in the VDR and the risk of MS, which is potentially modified by HLA-DRB1*1501.

Authors+Show Affiliations

University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia. Jeannette.lechner-scott@hnehealth.nsw.gov.auNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21816760

Citation

Cox, Mathew B., et al. "Potential Association of Vitamin D Receptor Polymorphism Taq1 With Multiple Sclerosis." Multiple Sclerosis (Houndmills, Basingstoke, England), vol. 18, no. 1, 2012, pp. 16-22.
Cox MB, Ban M, Bowden NA, et al. Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis. Mult Scler. 2012;18(1):16-22.
Cox, M. B., Ban, M., Bowden, N. A., Baker, A., Scott, R. J., & Lechner-Scott, J. (2012). Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis. Multiple Sclerosis (Houndmills, Basingstoke, England), 18(1), pp. 16-22. doi:10.1177/1352458511415562.
Cox MB, et al. Potential Association of Vitamin D Receptor Polymorphism Taq1 With Multiple Sclerosis. Mult Scler. 2012;18(1):16-22. PubMed PMID: 21816760.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis. AU - Cox,Mathew B, AU - Ban,Maria, AU - Bowden,Nikola A, AU - Baker,Amie, AU - Scott,Rodney J, AU - Lechner-Scott,Jeannette, Y1 - 2011/08/03/ PY - 2011/8/6/entrez PY - 2011/8/6/pubmed PY - 2012/5/18/medline SP - 16 EP - 22 JF - Multiple sclerosis (Houndmills, Basingstoke, England) JO - Mult. Scler. VL - 18 IS - 1 N2 - BACKGROUND: The environmental influence of sun exposure and vitamin D in particular and its implication with multiple sclerosis (MS) has recently received considerable attention. Current evidence based on genetic and epidemiological studies indicate that vitamin D is implicated in the aetiology of this disease. METHODS: We examined two common variants in the vitamin D receptor (VDR) gene in 1153 trio families and 726 cases and 604 controls. We also examined epistatic interactions between the VDR SNPs rs731236 and rs2228570 with the tagging single nucleotide polymorphism (SNP) rs3135388 for the HLA-DRB*1501 locus containing a highly conserved vitamin D responsive element within its promoter region. RESULTS: We found weak evidence for an association between the rs731236C allele and MS, while there was no direct association with rs2228570. When examining the interaction between the VDR gene variations and the DRB1*1501 tagging SNP a more complex relationship was observed. Although the interaction was not statistically significant, there appeared to be a trend of increasing risk of MS in participants who were homozygous for the HLA-DRB1*1501 allele in association with the more active form of the VDR (Fok1). CONCLUSION: We have identified weak evidence of an association between a common variation within the VDR gene and MS, in the largest study reported to date of this candidate gene. There appears to be a relationship between polymorphisms in the VDR and the risk of MS, which is potentially modified by HLA-DRB1*1501. SN - 1477-0970 UR - https://www.unboundmedicine.com/medline/citation/21816760/Potential_association_of_vitamin_D_receptor_polymorphism_Taq1_with_multiple_sclerosis_ L2 - http://journals.sagepub.com/doi/full/10.1177/1352458511415562?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -