BsmI polymorphism of vitamin D receptor gene and cancer risk: A comprehensive meta-analysis

Raimondi, Sara; Pasquali, Elena; Gnagnarella, Patrizia; Serrano, Davide; Disalvatore, Davide; Johansson, Harriet; Gandini, Sara

doi:10.1016/j.mrfmmm.2014.06.001

Cited by 28 publications

(29 citation statements)

References 111 publications

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“…Comprehensive meta-analyses have summarized investigations of the associations between the 5 VDR SNPs discussed above and cancer risk (Table 1) (42)(43)(44). For all of the polymorphisms, the genotype denoted as the wild type is the genotype associated with enhanced VDR activity through various biological mechanisms, such as increased receptor expression or affinity for vitamin D (45).…”

Section: Vitamin D-related Genesmentioning

confidence: 99%

“…When specific cancer sites were examined, the ff genotype was associated with an increased risk of skin and ovarian cancers (42). Seventythree studies included in the meta-analyses of the BsmI variant revealed that the BB versus bb BsmI genotype was associated with a lower risk of overall cancer, with the strongest associations for colorectal cancer (43). For Cdx2, the gg versus GG genotype was associated with an increased risk of overall cancer, but with no statistically significant association with any specific cancer site (44).…”

Section: Vitamin D-related Genesmentioning

confidence: 99%

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Vitamin D and Cancer Risk and Mortality: State of the Science, Gaps, and Challenges

Mondul

Weinstein

Layne

et al. 2017

Epidemiologic Reviews

157

133

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There has been substantial enthusiasm recently regarding the potential role of vitamin D in the primary and secondary prevention of cancer. Laboratory studies demonstrate a range of anticarcinogenic effects for vitamin D compounds, but human studies have yielded little consistent evidence supporting a protective association. Higher circulating levels of vitamin D (i.e., 25-hydroxyvitamin D or 25(OH)D) appear to be associated with reduced risk of colorectal and bladder malignancies, but higher risk of prostate and possibly pancreatic cancers, with no clear association for most other organ sites examined. Despite there being no official institutional recommendations regarding the use of vitamin D supplements for cancer prevention, screenings for vitamin D deficiency and vitamin D supplement use have increased substantially over the past decade. These widespread practices demonstrate that population sociobehavioral changes are often adopted before scientifically well-informed policies and recommendations are available. This review critically examines the currently available epidemiologic literature regarding the associations between circulating 25(OH)D, vitamin D supplementation, and vitamin D-related genetic variation and cancer risk and mortality, with a particular emphasis on prospective studies. We identify several important gaps in our scientific knowledge that should be addressed in order to provide sufficient reproducible data to inform evidence-based recommendations related to optimal 25(OH)D concentrations (and any role for vitamin D supplementation) for the primary and secondary prevention of cancer. With few exceptions, such recommendations cannot be made at this time.

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Section: Vitamin D-related Genesmentioning

confidence: 99%

Section: Vitamin D-related Genesmentioning

confidence: 99%

Vitamin D and Cancer Risk and Mortality: State of the Science, Gaps, and Challenges

Mondul

Weinstein

Layne

et al. 2017

Epidemiologic Reviews

157

133

View full text Add to dashboard Cite

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“…J Cancer Allied Spec 2018;4(2):2 (rs1544410), FokI (rs2228570) and Cdx-2 (rs11568820) variants in VDR gene are among the frequently studied SNPs and are linked with breast cancer risk. [71][72][73][74] VDR is mapped on chromosome 12 and encodes for 1α, 25 dihydroxy Vitamin D3 receptor involved in regulation of calcium metabolism and maintenance of mammary gland. [75] Decreased expression of VDR has been reported in breast tumours and is likely because of VDR gene polymorphisms.…”

Section: Review Articlementioning

confidence: 99%

“…Conflicting results have been reported among Caucasian studies assessing the link of the two common SNPs (BsmI and FokI) with breast cancer risk. [72,73,76,77] Insufficient data are available for Asian populations. [71,78] To investigate the role of VDR BsmI and FokI SNPs in breast cancer development, a large case-control study was conducted in Pakistan comprising 463 early-onset or familial breast cancer cases (with known BRCA1/2 mutation status) and 1012 female controls.…”

Section: Review Articlementioning

confidence: 99%

Inherited Genetic Susceptibility to Breast Cancer in Pakistan

Muhammad

Nawaz

Khan

et al. 2018

J Cancer Allied Spec

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Breast cancer is a heterogeneous disease. Several genetic, environmental and lifestyle factors are involved in the aetiology of this disease. Genetic risk factors include alterations (mutations) in genes conferring risks to develop breast cancer. Depending on the associated lifetime risks of this malignancy, these genes are categorised into high-, moderate- and low-risk genes. Women carrying mutations in these genes are at an increased risk to develop breast cancer, ovarian cancer and several other malignancies. Breast carcinoma is the most reported malignancy in Pakistani females. Pakistan is a developing country with most of its population living in rural areas; hence, optimal healthcare facilities are inadequate for the early diagnosis and prevention of this disease. Hence, identification of individuals carrying mutations is clinically relevant as different strategies are available for the early detection, risk reduction and better management of this malignancy. This review summarises the findings of the major studies conducted in Pakistan to investigate the contribution of breast cancer predisposing genes. Furthermore, implications of the current studies and future research potentials are discussed.Key words: Breast cancer gene 1/2, breast cancer, checkpoint kinase 2, genetic susceptibility, Pakistan, RAD51C, tumour Protein p53, Vitamin D receptor

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“…In addition, meta-analyses of epidemiologic studies showed that serum 25-hydroxy-vitamin D [25(OH)D] and vitamin D receptor polymorphisms (VDR) are associated with cancer risk at multiple sites (2)(3)(4)(5)(6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

Meta-analysis of Vitamin D–Binding Protein and Cancer Risk

Tagliabue

Raimondi

Gandini

2015

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Epidemiologic evidence supported a role for vitamin D and vitamin D receptor (VDR) polymorphisms in cancer risk. Beyond VDR, the biologic effects of vitamin D are mediated by the vitamin D-binding protein (DBP), a key protein in vitamin D metabolism. Furthermore, the gene encoding the DBP (GC, group-specific component) has an important role in the vitamin D pathway. Several studies investigated DBP serologic levels and GC polymorphisms in association with cancer risk with controversial results. Thus, we carried out a meta-analysis to investigate these associations.Methods: We included 28 independent studies concerning the following tumors: basal cell carcinoma, bladder, breast, colon-rectum, endometrium, liver, esophagus, stomach, melanoma, pancreas, prostate, and kidney. Through random-effect models, we calculated the summary odds ratios (SOR) for serum DBP and the GC polymorphisms rs2282679, rs12512631, rs7041, rs4588, rs17467825, rs1155563, and rs1352844.

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BsmI polymorphism of vitamin D receptor gene and cancer risk: A comprehensive meta-analysis

Cited by 28 publications

References 111 publications

Vitamin D and Cancer Risk and Mortality: State of the Science, Gaps, and Challenges

Vitamin D and Cancer Risk and Mortality: State of the Science, Gaps, and Challenges

Inherited Genetic Susceptibility to Breast Cancer in Pakistan

Meta-analysis of Vitamin D–Binding Protein and Cancer Risk

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