Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population

Bretherton-Watt, D.; Given-Wilson, Rosalind; Mansi, Janine; Thomas, Valerie A.; Carter, N; Colston, Kay W.

doi:10.1054/bjoc.2001.1864

Cited by 107 publications

(77 citation statements)

References 30 publications

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“…Although some attempts have already been made to evaluate the role of Fok I (C/T), VDR polymorphism in various types of cancer, including colorectal cancer (Correa-Cerro et al, 1999;Curran et al, 1999;Ingles 2000;Bretherton-Watt 2001;Chokkalingam 2001;Wong et al, 2003). No such studies directed to unravel the role of Vitamin D and its receptor gene, have been carried out so far in Kashmir valley, which represents the Northern most part of India .…”

Section: Discussionmentioning

confidence: 99%

Association of a VDR Gene Polymorphism with Risk of Colorectal Cancer in Kashmir

Rasool

Kadla²,

Khan³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Roles of the vitamin D receptor in etiology of cancers, including colorectal cancer, have been repeatedly stressed in different parts of the world. A case control study aimed to evaluate the relationship between the two was therefore initiated in Kashmir, known both for its increasing incidence of gastrointestinal cancers and deficiency of micro-nutrients especially vitamin D. The study included a total of 617 subjects (312 colorectal cancer cases and 305 controls), with sampling carried out over a period of 5 years. DNA samples from the blood of the subjects were analyzed for start codon Fok I VDR polymorphism. We obtained a 1.3 fold increased risk among individuals homozygous for f variants as compared to subjects homozygous for F allele (odds ratio OR 1.3, 95%CI, 0.861-1.65). Our study also showed statistically significant results when dwelling and tumor location characteristics were stratified with Fok I polymorphism, all of which suggests a possible role of Fok I polymorphism in the etiology of CRC in Kashmir

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Section: Discussionmentioning

confidence: 99%

Association of a VDR Gene Polymorphism with Risk of Colorectal Cancer in Kashmir

Rasool

Kadla²,

Khan³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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“…One example includes BsmI restriction site polymorphisms, which occur in the intron separating exons VIII and IX, and are linked with another polymorphism, a poly(A) microsatellite located in the 3 0 UTR (Ingles et al, 2000). The BB genotype has been associated with higher circulating 1,25(OH) 2 D levels , and with lower risk of breast cancer in some (Yamagata et al, 1997;Ruggiero et al, 1998;Bretherton-Watt et al, 2001) but not all (Ingles et al, 2000;Hou et al, 2002) studies. Findings for colon cancer (Slattery et al, 2001) and prostate cancer (Ingles et al, 1997) also support a potential protective effect of this polymorphism or haplotypes containing this polymorphism.…”

Section: Gene-diet Interactionsmentioning

confidence: 99%

Diet and cancer prevention

2004

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Dietary effects are presumed to underlie many of the large international differences in incidence seen for most cancers. Apart from alcohol and a few micronutrients, however, the role of specific nutritional factors remains illdefined. The evidence for a role of energy balance, physical inactivity, and obesity has strengthened, while for dietary fat it has weakened. Phytochemicals such as folate, lycopene and flavonoids are still the subject of active research. As the mechanisms underlying human carcinogenesis are better understood, dietary research will focus increasingly on intermediate markers such as the insulin-like growth factors and potentially carcinogenic metabolites.

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“…The 3 0 polymorphisms have been reported to be associated with the occurrence and outcome, as assessed by metastasis or presence of adverse prognostic markers, of prostatic cancer (Taylor et al, 1996;Ingles et al, 1997c;Ingles et al, 1998;Ma et al, 1998;Habuchi et al, 2000;Hamasaki et al, 2001;Medeiros et al, 2002), breast cancer (Curran et al, 1999;Lundin et al, 1999;Ingles et al, 2000;Bretherton-Watt et al, 2001;Cui et al, 2001;Schondorf et al, 2003) and renal cancer . Fok 1 polymorphisms have been reported to be associated with the outcome of prostate cancer and occurrence of breast (Ingles et al, 1997a) and colon (Wong et al, 2003) cancers.…”

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confidence: 99%

A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma

et al. 2004

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The association of Taq 1 and Fok 1 restriction fragment length polymorphisms of the vitamin D receptor with occurrence and outcome of malignant melanoma (MM), as predicted by tumour (Breslow) thickness, has been reported previously. We now report a novel adenine -guanine substitution À1012 bp relative to the exon 1a transcription start site (A-1012G), found following screening by single-stranded conformational polymorphism of this promoter region. There was a total of 191 MM cases , which were stratified according to conventional Breslow thickness groups, cases being randomly selected from each group to form a distribution corresponding to the known distribution of Breslow thickness in our area, and this population (n ¼ 176) was compared to 80 controls. The A allele was over-represented in MM patients and, with GG as reference, odds ratio (OR) for AG was 2.5, 95% confidence interval (CI) 1.1 -5.7, (P ¼ 0.03) and AA 3.3, CI 1.4 -8.1, (P ¼ 0.007). The outcome was known in 171 of 191 patients and the A allele was related to the development of metastasis, the Kaplan -Meier estimates of the probability of metastasis at 5 years being: GG 0%; AG 9%, CI 4 -16%; AA 21%, CI 12 -36%; (P ¼ 0.008), and to thicker Breslow thickness groups (P ¼ 0.04). The effect on metastasis was independent of tumour thickness and A-1012G may have predictive potential, additional to Breslow thickness. Neither the Fok 1 nor Taq 1 variants (f and t) were significantly related to the development of metastasis, although there was a strong relationship of fftt with the thickest Breslow thickness group (P ¼ 0.005). There was an interaction between the A-1012G and Fok 1 polymorphisms (P ¼ 0.025) and the Fok 1 variant enhanced the effect of the A allele of the A-1012G polymorphism on metastasis, the probability of metastasis for AAff at 5 years follow-up being 57%, CI 24 -92%.

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Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population

Cited by 107 publications

References 30 publications

Association of a VDR Gene Polymorphism with Risk of Colorectal Cancer in Kashmir

Association of a VDR Gene Polymorphism with Risk of Colorectal Cancer in Kashmir

Diet and cancer prevention

A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma

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