Potential association of vitamin D receptor polymorphism <i>Taq1</i> with multiple sclerosis

Cox, Mathew; Ban, Masashi; Bowden, Nikola A.; Baker, Amie; Scott, Rodney J.; Lechner‐Scott, Jeannette

doi:10.1177/1352458511415562

Cited by 56 publications

(57 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The outcome was stratified into mild/ moderate (EDSS 0-5.5) or severe (EDSS 6-10) disability. In the included studies, the EDSS was mild/moderate (EDSS 0-5.5) except for a small deviation in the study of Cox et al 29 where 35.8% of MS patients had an EDSS o6. The patient stratification according to type of MS was provided in the majority of studies.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

“…31 Therefore, 13 case-control studies reporting genotypic frequencies in cases and in controls were included in meta-analyses. 3,18,19,21,[23][24][25][26][27][28][29]32,33 The studies were heterogeneous for population composition and for geographic characteristics. Each study character was subdivided into different subgroups.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

“…However, there are several other functional VDR single nucleotide polymorphisms in the complex promoter region of the VDR gene. The interaction of the VDR gene with HLA genes have been shown to be significant in MS. 18,27,29,32 Interestingly, environmental factors may interact with VDR polymorphisms to modify MS risk. The current study could not evaluate all interactions between study characteristics and VDR polymorphisms due to insufficient information from the primary publications.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case–control studies

et al. 2014

View full text Add to dashboard Cite

Vitamin D receptor (VDR) polymorphisms have been studied as potential contributors to multiple sclerosis (MS). However, published studies differ with respect to study design and the significance of the effects detected. The aim of this study was to quantify the magnitude of the risk associated with the TaqI, BsmI, ApaI and FokI VDR polymorphisms in MS using a meta-analysis approach. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we conducted a systematic search and meta-analysis of the literature. Subgroup analyses were performed to detect potential sources of heterogeneity from the selected study characteristics. The stability of the summary risk was evaluated using sensitivity analyses. The meta-analysis included a total of 3300 cases and 3194 controls from 13 casecontrol studies. There were no significant associations found between TaqI and BsmI polymorphisms and MS risk. The association between the ApaI polymorphism and MS risk was significant in the homozygous and codominant models (P50.013 and P50.031, respectively), suggesting that the AA ApaI genotype might be a significant MS risk factor. Publication year and age significantly affected the association between TaqI polymorphisms and MS (P50.014 and P50.010, respectively), which indicates a protective effect of the major T allele. The AA ApaI and FF FokI genotypes are significant risk factors for MS. The association between the TaqI polymorphism and MS risk is significantly affected by study characteristics.

show abstract

Section: Characteristics Of Studiesmentioning

confidence: 99%

Section: Characteristics Of Studiesmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case–control studies

et al. 2014

View full text Add to dashboard Cite

show abstract

“…In addition, there is evidence suggesting vitamin D-based regulation of klotho and nuclear factor-erythroid-2-related factor 2 (Nrf2) signaling pathways to be responsible for MS development as they are believed to maintain calcium and redox homeostasis within the body (67) and as a result klotho and Nrf2 in conjunction with vitamin D (vitamin D-klothoNrf2) act as keepers of several cell signaling pathways including myelin synthesis pathway (68). Even though there is evidence suggesting the role of vitamin D as a potent environmental risk factor for MS, further studies are required to evaluate (73). A recent investigation provided strong evidence for the role of VDR in the regulation of gene expression in immune cells of myeloid lineage which clearly indicates the importance of these genes in maintaining cellular tolerance (74).…”

Section: Ms Risk and Vitamin Dmentioning

confidence: 99%

Vitamin D and Multiple Sclerosis: An Update

Zahoor

Haq

2017

Multiple Sclerosis: Perspectives in Treatment and Pathogenesis

View full text Add to dashboard Cite

Multiple sclerosis (MS) is a long-lasting inflammatory neurodegenerative disease of the central nervous system caused by an inappropriate attack of the body' s immune system on its own cells. To date, its etiology remains highly enigmatic, with insufficient evidence on the exact cause triggering the disease. Many studies have highlighted the role of different environmental and genetic factors in its etiopathogenesis, each adding a new wedge to MS conundrum and therefore making it a multifactorial and polygenic disease. One of the entrants in the risk factor category for MS is vitamin D, and there is sufficient evidence to suggest its role in increasing the risk of MS development. MS patients have lower levels of vitamin D, and in conjunction with other factors like low sunlight intensity and genetic variations in vitamin D metabolic pathway genes, vitamin D has been adjudged as a potent risk factor for MS. The biological effects of vitamin D in the body are mediated by the vitamin D receptor that acts as a transcription factor after activation by vitamin D and subsequent heterodimerization with the retinoid-X receptor. This allows regulation of protein expression of target genes involved in diverse cellular processes including immune response and vitamin D metabolism. It clearly suggests use of vitamin D supplementation as an unconventional option for MS treatment; however, much work needs to be done to precisely determine the level and/or dosage of vitamin D required for achieving optimum therapeutic response in patients without causing adverse effects.

show abstract

“…Polymorphisms of VDR have been reported to be associated with bone mineral density [23] diabetes mellitus [24,25], hypertension [26], asthma [27,28], periodontitis [29,30], risk of multiple sclerosis [31,32] and malignancy [33,34,35,36,37,38]. On the other hand, several studies failed to report an impact of VDR polymorphisms on multiple sclerosis [39], inflammatory bowel disease [40], coronary artery disease [41] or malignancy [42,43,44].…”

Section: Introductionmentioning

confidence: 99%

Impact of Vitamin D Receptor VDR rs2228570 Polymorphism in Oldest Old

Glocke

Läng

Schaeffeler

et al. 2013

Kidney Blood Press Res

View full text Add to dashboard Cite

Background: Calcitriol, a key player in the regulation of mineral metabolism, influences, directly or by increasing plasma Ca²⁺ and phosphate levels, a multitude of physiological functions, such as bone mineralization, cell proliferation, immune response, carbohydrate metabolism, blood pressure, platelet reactivity, gastric acid secretion, cognitive function and mood. Calcitriol is mainly effective by stimulation of the Vitamin D receptor VDR. The responsiveness of VDR may be affected by gene variants, such as the FokI polymorphism (rs2228570). The GG gene variant is expected to be more active than the GA or AA gene variant. The present study explored the impact of VDR rs2228570 on survival and health of oldest old individuals (> 90 years). Methods: 101 individuals > 90 years were examined and genotyped. As a result, the prevalence of GG, GA & AA was 36 (10 ♂, 26♀), 52 (24 ♂, 28♀) and 13 (4 ♂, 9♀), respectively, a prevalence not significantly different from the frequency in public available dbSNP and a population (n = 208) of young volunteers (average age 49 years). Results: As compared to carriers of GG, carriers of AA and/or GA displayed significantly (p<0.05) lower diastolic blood pressure (significant only in ♂), higher instrumental activity of daily life (IADL) score and more frequent hospital visits (significant only in ♂), significantly lower prevalence of depression (significant in ♀+♂), renal disease (significant only in ♀), allergy, peptic ulcer and urolithiasis (significant only in ♂), as well as significantly higher prevalence of transitoric ischemic attacks. In a younger population a German version of the NEO-FFI, allowing reliable and valid assessment of personality, revealed decreased neuroticism (significant only in ♂) and increased extraversion in AA carriers. Conclusion: The Vitamin D receptor gene variant VDR rs2228570 has only little impact on life span but may affect a variety of pathophysiologically relevant functions including mood.

show abstract

Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis

Cited by 56 publications

References 42 publications

Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case–control studies

Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case–control studies

Vitamin D and Multiple Sclerosis: An Update

Impact of Vitamin D Receptor VDR rs2228570 Polymorphism in Oldest Old

Contact Info

Product

Resources

About