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Published in: Tumor Biology 8/2015

01-08-2015 | Research Article

Vitamin D receptor gene polymorphisms and breast cancer risk among postmenopausal Egyptian women

Authors: Eman Abd-Elkader Abd-Elsalam, Nadia A. Ismaeil, Hoda Sibai Abd-Alsalam

Published in: Tumor Biology | Issue 8/2015

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Abstract

Many studies reported that vitamin D can protect against various types of cancers. The mechanism of vitamin D action is mediated by the vitamin D receptor (VDR). VDR may have anti-stress function because it has been identified as p53 direct target gene. This research was designed to investigate the role of VDR polymorphisms BsmI (rs 1544410), ApaI (rs 7975232), TaqI (rs 731236), and FokI (rs 10735810) in pathogenesis of breast cancer using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The study included 130 postmenopausal breast cancer cases aged 49 to 65 years and 100 controls aged 50 to 72 years. A significantly increased risk of breast cancer among carriers of BsmI bb genotype was observed (OR = 2.5 (1.1–5.6), P = 0.025). Also, a significantly increased risk of breast cancer was detected among women carrying ApaI aa genotype (OR = 2.2 (1.02–4.5), P = 0.04), while no significant associations were observed between breast cancer risk and genotypes and allele frequencies of FokI and TaqI polymorphisms (P > 0.05). Our study showed that VDR gene polymorphisms (BsmI and ApaI) may contribute to breast cancer risk among postmenopausal women.
Literature
1.
go back to reference Bretherton-Watt D, Given-Wilson R, Mansi JL, Thomas V, Carter N, Colston KW. Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population. Br J Cancer. 2001;85(2):171–5.CrossRefPubMedPubMedCentral Bretherton-Watt D, Given-Wilson R, Mansi JL, Thomas V, Carter N, Colston KW. Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population. Br J Cancer. 2001;85(2):171–5.CrossRefPubMedPubMedCentral
2.
go back to reference Buyru N, Tezol A, Yosunkaya-Fenerci E, Dalay N. Vitamin D receptor gene polymorphisms in breast cancer. Exp Mol Med. 2003;35:550–5.CrossRefPubMed Buyru N, Tezol A, Yosunkaya-Fenerci E, Dalay N. Vitamin D receptor gene polymorphisms in breast cancer. Exp Mol Med. 2003;35:550–5.CrossRefPubMed
3.
go back to reference Chen WY, Bertone-Johnson ER, Hunter DJ, Willett WC, Hankinson SE. Associations between polymorphisms in the vitamin D receptor and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005;14:2335–9.CrossRefPubMed Chen WY, Bertone-Johnson ER, Hunter DJ, Willett WC, Hankinson SE. Associations between polymorphisms in the vitamin D receptor and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005;14:2335–9.CrossRefPubMed
4.
go back to reference Curran JE, Vaughan T, Lea RA, Weinstein SR, Morrison NA, Griffiths LR. Association of a Vitamin D receptor polymorphism with sporadic breast cancer development. Int J Cancer. 1999;83:723–6.CrossRefPubMed Curran JE, Vaughan T, Lea RA, Weinstein SR, Morrison NA, Griffiths LR. Association of a Vitamin D receptor polymorphism with sporadic breast cancer development. Int J Cancer. 1999;83:723–6.CrossRefPubMed
5.
go back to reference Dalessandri KM, Rei M, Wiencke JK, Farren G, Pugh TW, Manjeshwar S, et al. Vitamin D receptor polymorphisms and breast cancer risk in a high-incidence population: a pilot study. J Am Coll Surg. 2012;215(5):652–7.CrossRefPubMed Dalessandri KM, Rei M, Wiencke JK, Farren G, Pugh TW, Manjeshwar S, et al. Vitamin D receptor polymorphisms and breast cancer risk in a high-incidence population: a pilot study. J Am Coll Surg. 2012;215(5):652–7.CrossRefPubMed
6.
go back to reference Engel LS, Orlow I, Sima CS, Satagopan JM, Mujumdar UJ, et al. Vitamin D receptor gene haplotypes and polymorphisms and risk of breast cancer: a nested case-control study. Cancer Epidemiol Biomarkers Prev. 2012;21(10):1856–67.CrossRefPubMedPubMedCentral Engel LS, Orlow I, Sima CS, Satagopan JM, Mujumdar UJ, et al. Vitamin D receptor gene haplotypes and polymorphisms and risk of breast cancer: a nested case-control study. Cancer Epidemiol Biomarkers Prev. 2012;21(10):1856–67.CrossRefPubMedPubMedCentral
8.
go back to reference Guy M, Lowe LC, Bretherton-Watt D, Mansi JL, Peckitt C, Bliss J, et al. Vitamin D receptor gene polymorphisms and breast cancer risk. Clin Cancer Res. 2004;10:5472–81.CrossRefPubMed Guy M, Lowe LC, Bretherton-Watt D, Mansi JL, Peckitt C, Bliss J, et al. Vitamin D receptor gene polymorphisms and breast cancer risk. Clin Cancer Res. 2004;10:5472–81.CrossRefPubMed
9.
go back to reference Lopes N, Sousa B, Martins D, Gomes M, Vieira D, Veronese LA, et al. Alterations in Vitamin D signaling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions. BMC Cancer. 2010;10:483.CrossRefPubMedPubMedCentral Lopes N, Sousa B, Martins D, Gomes M, Vieira D, Veronese LA, et al. Alterations in Vitamin D signaling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions. BMC Cancer. 2010;10:483.CrossRefPubMedPubMedCentral
10.
go back to reference Lowe LC, Guy M, Mansi JL, Peckitt C, Bliss J, Wilson RG, et al. Plasma 25-hydroxy vitamin D concentrations, vitamin D receptor genotype and breast cancer risk in a UK Caucasian population. Eur J Cancer. 2005;41:1164–9.CrossRefPubMed Lowe LC, Guy M, Mansi JL, Peckitt C, Bliss J, Wilson RG, et al. Plasma 25-hydroxy vitamin D concentrations, vitamin D receptor genotype and breast cancer risk in a UK Caucasian population. Eur J Cancer. 2005;41:1164–9.CrossRefPubMed
11.
go back to reference Marik R, Fackler M, Gabrielson E, Zeiger MA, Sukumar S, et al. DNA methylation-related vitamin D receptor insensitivity in breast cancer. Cancer Biol Ther. 2010;10(1):44–53.CrossRefPubMedPubMedCentral Marik R, Fackler M, Gabrielson E, Zeiger MA, Sukumar S, et al. DNA methylation-related vitamin D receptor insensitivity in breast cancer. Cancer Biol Ther. 2010;10(1):44–53.CrossRefPubMedPubMedCentral
12.
go back to reference McCullough ML, Stevens VL, Diver WR, Feigelson HS, Rodriguez C, Bostick RM, et al. Vitamin D pathway gene polymorphisms, calcium intake, and risk of postmenopausal breast cancer. Breast Cancer Res. 2007;9(1):R9.CrossRefPubMedPubMedCentral McCullough ML, Stevens VL, Diver WR, Feigelson HS, Rodriguez C, Bostick RM, et al. Vitamin D pathway gene polymorphisms, calcium intake, and risk of postmenopausal breast cancer. Breast Cancer Res. 2007;9(1):R9.CrossRefPubMedPubMedCentral
13.
go back to reference McKay JD, McCullough ML, Ziegler RG, Kraft P, Saltzman BS, Riboli E, et al. Vitamin D receptor polymorphisms and breast cancer risk: results from the national cancer institute breast and prostate cancer cohort consortium. Cancer Epidemiol Biomarkers Prev. 2009;18:297–305.CrossRefPubMed McKay JD, McCullough ML, Ziegler RG, Kraft P, Saltzman BS, Riboli E, et al. Vitamin D receptor polymorphisms and breast cancer risk: results from the national cancer institute breast and prostate cancer cohort consortium. Cancer Epidemiol Biomarkers Prev. 2009;18:297–305.CrossRefPubMed
14.
go back to reference Maruyama R, Aoki F, Toyota M, Sasaki Y, Akashi H, Mita H, et al. Comparative genome analysis identifies the vitamin D receptor gene as a direct target of p53-mediated transcriptional activation. Cancer Res. 2006;66:4574–83.CrossRefPubMed Maruyama R, Aoki F, Toyota M, Sasaki Y, Akashi H, Mita H, et al. Comparative genome analysis identifies the vitamin D receptor gene as a direct target of p53-mediated transcriptional activation. Cancer Res. 2006;66:4574–83.CrossRefPubMed
15.
go back to reference Mathiasen IS, Lademann U, Jäättelä M. Apoptosis induced by vitamin D compounds in breast cancer cells is inhibited by Bcl-2 but does Not involve known caspases or p53. Cancer Res. 1999;59(19):4848–56.PubMed Mathiasen IS, Lademann U, Jäättelä M. Apoptosis induced by vitamin D compounds in breast cancer cells is inhibited by Bcl-2 but does Not involve known caspases or p53. Cancer Res. 1999;59(19):4848–56.PubMed
16.
go back to reference Mehta RG, Moriarty RM, Mehta RR, Penmasta R, Lazzaro G, Constantinou A, et al. Prevention of preneoplastic mammary lesion development by a novel vitamin D analogue, 1alpha-hydroxyvitamin D5. J Natl Cancer Inst. 1997;89:212–8.CrossRefPubMed Mehta RG, Moriarty RM, Mehta RR, Penmasta R, Lazzaro G, Constantinou A, et al. Prevention of preneoplastic mammary lesion development by a novel vitamin D analogue, 1alpha-hydroxyvitamin D5. J Natl Cancer Inst. 1997;89:212–8.CrossRefPubMed
17.
go back to reference Mehta RG, Peng X, Alimirah F, Murillo G, Mehta R. Vitamin D and breast cancer: emerging concepts. Cancer Lett. 2012;334(1):95–100.CrossRefPubMed Mehta RG, Peng X, Alimirah F, Murillo G, Mehta R. Vitamin D and breast cancer: emerging concepts. Cancer Lett. 2012;334(1):95–100.CrossRefPubMed
18.
go back to reference Mishra DK, Wu Y, Sarkissyan M, Sarkissyan S, Chen Z, Shang X, et al. Vitamin D receptor gene polymorphisms and prognosis of breast cancer among African-American and hispanic women. PLoS One. 2013;8(3):e57967.CrossRefPubMedPubMedCentral Mishra DK, Wu Y, Sarkissyan M, Sarkissyan S, Chen Z, Shang X, et al. Vitamin D receptor gene polymorphisms and prognosis of breast cancer among African-American and hispanic women. PLoS One. 2013;8(3):e57967.CrossRefPubMedPubMedCentral
19.
go back to reference Qi X, Pramanik R, Wang J, Schultz RM, Maitra RK, Han J, et al. The p38 and JNK pathways cooperate to trans-activate vitamin D receptor via c-Jun/AP-1 and sensitize human breast cancer cells to vitamin D(3)-induced growth inhibition. J Biol Chem. 2002;277:25884–92.CrossRefPubMed Qi X, Pramanik R, Wang J, Schultz RM, Maitra RK, Han J, et al. The p38 and JNK pathways cooperate to trans-activate vitamin D receptor via c-Jun/AP-1 and sensitize human breast cancer cells to vitamin D(3)-induced growth inhibition. J Biol Chem. 2002;277:25884–92.CrossRefPubMed
20.
go back to reference Rezende VB, Barbosa Jr F, Montenegro MF, Sandrim VC, Gerlach RF, Tanus-Santos JE. An interethnic comparison of the distribution of vitamin D receptor genotypes and haplotypes. Clin Chim Acta. 2007;384(1–2):155–9.CrossRefPubMed Rezende VB, Barbosa Jr F, Montenegro MF, Sandrim VC, Gerlach RF, Tanus-Santos JE. An interethnic comparison of the distribution of vitamin D receptor genotypes and haplotypes. Clin Chim Acta. 2007;384(1–2):155–9.CrossRefPubMed
21.
go back to reference Rollison DE, Cole AL, Tung KH, Slattery ML, Baumgartner KB, Byers T, et al. Vitamin D intake, vitamin D receptor polymorphisms, and breast cancer risk among women living in the southwestern U.S. Breast Cancer Res Treat. 2012;132(2):683–91.CrossRefPubMed Rollison DE, Cole AL, Tung KH, Slattery ML, Baumgartner KB, Byers T, et al. Vitamin D intake, vitamin D receptor polymorphisms, and breast cancer risk among women living in the southwestern U.S. Breast Cancer Res Treat. 2012;132(2):683–91.CrossRefPubMed
22.
go back to reference Shahbazi S, Alavi S, Majidzadeh-A K, Ghaffarpour M, Soleimani A, Mahdian R. BsmI but not FokI polymorphism of VDR gene is contributed in breast cancer. Med Oncol. 2013;30(1):393–8. Shahbazi S, Alavi S, Majidzadeh-A K, Ghaffarpour M, Soleimani A, Mahdian R. BsmI but not FokI polymorphism of VDR gene is contributed in breast cancer. Med Oncol. 2013;30(1):393–8.
23.
go back to reference Tang C, Chen N, Wu M, Yuan H, Du Y. FokI polymorphism of vitamin D receptor gene contributes to breast cancer susceptibility: a meta-analysis. Breast Cancer Res Treat. 2009;117:391–9.CrossRefPubMed Tang C, Chen N, Wu M, Yuan H, Du Y. FokI polymorphism of vitamin D receptor gene contributes to breast cancer susceptibility: a meta-analysis. Breast Cancer Res Treat. 2009;117:391–9.CrossRefPubMed
24.
go back to reference Trabert B, Mlone KE, Daling JR, Doody DR, Bernstein L, Ursin G, et al. Vitamin D receptor polymorphisms and breast cancer risk in a large population-based case-control study of Caucasian and African-American women. Breast Cancer Res. 2007;9:R84.CrossRefPubMedPubMedCentral Trabert B, Mlone KE, Daling JR, Doody DR, Bernstein L, Ursin G, et al. Vitamin D receptor polymorphisms and breast cancer risk in a large population-based case-control study of Caucasian and African-American women. Breast Cancer Res. 2007;9:R84.CrossRefPubMedPubMedCentral
25.
go back to reference Vandevyver C, Wylin T, Cassiman JJ, Raus J, Geusens P. Influence of the vitamin D receptor gene alleles on bone mineral density in postmenopausal and osteoporotic women. J Bone Miner Res. 1997;12(2):241–7.CrossRefPubMed Vandevyver C, Wylin T, Cassiman JJ, Raus J, Geusens P. Influence of the vitamin D receptor gene alleles on bone mineral density in postmenopausal and osteoporotic women. J Bone Miner Res. 1997;12(2):241–7.CrossRefPubMed
26.
go back to reference Welsh J. Vitamin D, metabolism in mammary gland and breast cancer. Mol Cell Endocrinol. 2011;347:55–60.CrossRefPubMed Welsh J. Vitamin D, metabolism in mammary gland and breast cancer. Mol Cell Endocrinol. 2011;347:55–60.CrossRefPubMed
27.
go back to reference Welsh J. Cellular and molecular effects of vitamin D on carcinogenesis. Arch Biochem Biophys. 2012;523:107–14.CrossRefPubMed Welsh J. Cellular and molecular effects of vitamin D on carcinogenesis. Arch Biochem Biophys. 2012;523:107–14.CrossRefPubMed
28.
go back to reference Zhang K, Song L. Association between Vitamin D receptor gene polymorphisms and breast cancer risk: a meta-analysis of 39 studies. PLoS One. 2014;9(4):e96125.CrossRefPubMedPubMedCentral Zhang K, Song L. Association between Vitamin D receptor gene polymorphisms and breast cancer risk: a meta-analysis of 39 studies. PLoS One. 2014;9(4):e96125.CrossRefPubMedPubMedCentral
29.
go back to reference Zinser GM, Welsh JE. Accelerated mammary gland development during pregnancy and delayed post-lactational involution in vitamin D3 receptor null mice. Mol Endocrinol. 2004;18:2208–23.CrossRefPubMed Zinser GM, Welsh JE. Accelerated mammary gland development during pregnancy and delayed post-lactational involution in vitamin D3 receptor null mice. Mol Endocrinol. 2004;18:2208–23.CrossRefPubMed
30.
go back to reference Zinser GM, Packman K, Welsh JE. Vitamin D (3) receptor ablation alters mammary gland morphogenesis. Development. 2002;129:3067–76.PubMed Zinser GM, Packman K, Welsh JE. Vitamin D (3) receptor ablation alters mammary gland morphogenesis. Development. 2002;129:3067–76.PubMed
Metadata
Title
Vitamin D receptor gene polymorphisms and breast cancer risk among postmenopausal Egyptian women
Authors
Eman Abd-Elkader Abd-Elsalam
Nadia A. Ismaeil
Hoda Sibai Abd-Alsalam
Publication date
01-08-2015
Publisher
Springer Netherlands
Published in
Tumor Biology / Issue 8/2015
Print ISSN: 1010-4283
Electronic ISSN: 1423-0380
DOI
https://doi.org/10.1007/s13277-015-3332-3

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