Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease-specific survival

Pigment Cell and Melanoma Research

Volumn 29, Issue 2, 2016, Pages 176-185

  Yin, Jieyun ^a,b,c,d   Liu, Hongliang ^b,c   Yi, Xiaohua ^b,c   Wu, Wenting ^e   Amos, Christopher I ^f   Fang, Shenying ^g   Lee, Jeffrey E ^g   Han, Jiali ^e,h   Wei, Qingyi ^b,c  

^a MEDICAL COLLEGE OF SOOCHOW UNIVERSITY   (China)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f DARTMOUTH MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Cox regression; Cutaneous melanoma; Disease specific survival; Single nucleotide polymorphisms; Vitamin D pathway

Indexed keywords

BIOLOGICAL MARKER; RETINOID X RECEPTOR ALPHA; VITAMIN D; VITAMIN D BINDING PROTEIN; TUMOR PROTEIN;

ADULT; ARTICLE; BIOINFORMATICS; CANCER PROGNOSIS; CLINICAL EVALUATION; CORRELATION ANALYSIS; CUTANEOUS MELANOMA; DISEASE SPECIFIC SURVIVAL; DNA METHYLATION; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GRAY COMPETING RISKS REGRESSION MODEL; HAZARD RATIO; HUMAN; MAJOR CLINICAL STUDY; MALE; PROBABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; STATISTICAL MODEL; UNITED STATES; DISEASE FREE SURVIVAL; FOLLOW UP; GENETIC DATABASE; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MELANOMA; MORTALITY; SKIN TUMOR; SURVIVAL RATE; VALIDATION STUDY;

DATABASES, GENETIC; DISEASE-FREE SURVIVAL; FEMALE; FOLLOW-UP STUDIES; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MELANOMA; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINOID X RECEPTOR ALPHA; SKIN NEOPLASMS; SURVIVAL RATE; VITAMIN D-BINDING PROTEIN;

EID: 84958592309     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12437     Document Type: Article

References (52)

1. Amos, C.I., Wang, L.E., Lee, J.E. et al. (2011). Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum. Mol. Genet. 20, 5012-5023.
2. Aulchenko, Y.S., Ripke, S., Isaacs, A., and Van Duijn, C.M. (2007). GenABEL: an R library for genome-wide association analysis. Bioinformatics 23, 1294-1296.
3. Balch, C.M., Gershenwald, J.E., Soong, S.J. et al. (2009). Final version of 2009 AJCC melanoma staging and classification. J. Clin. Oncol. 27, 6199-6206.
4. Benjamini, Y., and Yekutieli, D. (2001). The control of the false discovery rate in multiple testing under dependency. Ann. Stat., 29, 1165-1188.
5. Biernacka, J.M., Tang, R., Li, J., Mcdonnell, S.K., Rabe, K.G., Sinnwell, J.P., Rider, D.N., De Andrade, M., Goode, E.L., and Fridley, B.L. (2009). Assessment of genotype imputation methods. BMC Proc. 3(Suppl 7), S5.
6. Bland, J.M., and Altman, D.G. (1995). Multiple significance tests: the Bonferroni method. BMJ 310, 170.
7. Bu, F.X., Armas, L., Lappe, J., Zhou, Y., Gao, G., Wang, H.W., Recker, R., and Zhao, L.J. (2010). Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects. Hum. Genet. 128, 549-556.
8. Carlberg, C., Bendik, I., Wyss, A., Meier, E., Sturzenbecker, L.J., Grippo, J.F., and Hunziker, W. (1993). Two nuclear signalling pathways for vitamin D. Nature 361, 657-660.
9. Chowdhury, R., Kunutsor, S., Vitezova, A. et al. (2014). Vitamin D and risk of cause specific death: systematic review and meta-analysis of observational cohort and randomised intervention studies. BMJ 348, g1903.
10. Colston, K., Colston, M.J., and Feldman, D. (1981). 1, 25-dihydroxyvitamin D3 and malignant melanoma: the presence of receptors and inhibition of cell growth in culture. Endocrinology 108, 1083-1086.
11. Danielsson, C., Fehsel, K., Polly, P., and Carlberg, C. (1998). Differential apoptotic response of human melanoma cells to 1 alpha, 25-dihydroxyvitamin D3 and its analogues. Cell Death Differ. 5, 946-952.
12. Davies, J.R., Field, S., Randerson-Moor, J. et al. (2014). An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 27, 234-243.
13. Deeb, K.K., Trump, D.L., and Johnson, C.S. (2007). Vitamin D signalling pathways in cancer: potential for anticancer therapeutics. Nat. Rev. Cancer 7, 684-700.
14. Egan, J.B., Thompson, P.A., Ashbeck, E.L. et al. (2010). Genetic polymorphisms in vitamin D receptor VDR/RXRA influence the likelihood of colon adenoma recurrence. Cancer Res. 70, 1496-1504.
15. Eisman, J.A., Barkla, D.H., and Tutton, P.J. (1987). Suppression of in vivo growth of human cancer solid tumor xenografts by 1, 25-dihydroxyvitamin D3. Cancer Res. 47, 21-25.
16. Fakih, M.G., Trump, D.L., Muindi, J.R. et al. (2007). A phase I pharmacokinetic and pharmacodynamic study of intravenous calcitriol in combination with oral gefitinib in patients with advanced solid tumors. Clin. Cancer Res. 13, 1216-1223.
17. Fine, J.P., and Gray, R.J. (1999). A proportional hazards model for the subdistribution of a competing risk. J. Am. Stat. Assoc. 94, 496-509.
18. Gambichler, T., Bindsteiner, M., Hoxtermann, S., and Kreuter, A. (2013). Serum 25-hydroxyvitamin D serum levels in a large German cohort of patients with melanoma. Br. J. Dermatol. 168, 625-628.
19. 1000 Genomes Project Consortium, Abecasis, G.R., Auton, A., Brooks, L.D., Depristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T., and Mcvean, G.A. (2012). An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65.
20. Gershenwald, J.E., and Ross, M.I. (2011). Sentinel-lymph-node biopsy for cutaneous melanoma. N. Engl. J. Med. 364, 1738-1745.
21. Goodwin, P.J., Ennis, M., Pritchard, K.I., Koo, J., and Hood, N. (2009). Prognostic effects of 25-hydroxyvitamin D levels in early breast cancer. J. Clin. Oncol. 27, 3757-3763.
22. Grundberg, E., Small, K.S., Hedman, A.K. et al. (2012). Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat. Genet. 44, 1084-1089.
23. Grundberg, E., Meduri, E., Sandling, J.K., Hedman, K., Keildson, S., Buil, A., Busche, S., Yuan, W., Nisbet, J., and Sekowska, M. (2013). Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am. J. Hum. Genet. 93, 876-890.
24. Hershberger, P.A., Mcguire, T.F., Yu, W.D., Zuhowski, E.G., Schellens, J.H., Egorin, M.J., Trump, D.L., and Johnson, C.S. (2002). Cisplatin potentiates 1, 25-dihydroxyvitamin D3-induced apoptosis in association with increased mitogen-activated protein kinase kinase kinase 1 (MEKK-1) expression. Mol. Cancer Ther. 1, 821-829.
25. Hewison, M., Zehnder, D., Bland, R., and Stewart, P.M. (2000). 1alpha-Hydroxylase and the action of vitamin D. J. Mol. Endocrinol. 25, 141-148.
26. Holick, M.F. (1996). Vitamin D and bone health. J. Nutr. 126, 1159S-1164S.
27. Hutchinson, P.E., Osborne, J.E., Lear, J.T., Smith, A.G., Bowers, P.W., Morris, P.N., Jones, P.W., York, C., Strange, R.C., and Fryer, A.A. (2000). Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma. Clin. Cancer Res. 6, 498-504.
28. Kaplan, E.L., and Meier, P. (1958). Nonparametric estimation from incomplete observations. J. Am. Stat. Assoc. 53, 457-481.
29. Laddha, S.V., Ganesan, S., Chan, C.S., and White, E. (2014). Mutational landscape of the essential autophagy gene BECN1 in human cancers. Mol. Cancer Res. 12, 485-490.
30. Lappe, J.M., Travers-Gustafson, D., Davies, K.M., Recker, R.R., and Heaney, R.P. (2007). Vitamin D and calcium supplementation reduces cancer risk: results of a randomized trial. Am. J. Clin. Nutr. 85, 1586-1591.
31. Li, Y., Willer, C.J., Ding, J., Scheet, P., and Abecasis, G.R. (2010). MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816-834.
32. Mailman, M.D., Feolo, M., Jin, Y., Kimura, M., Tryka, K., Bagoutdinov, R., Hao, L., Kiang, A., Paschall, J., and Phan, L. (2007). The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet. 39, 1181-1186.
33. Newton-Bishop, J.A., Beswick, S., Randerson-Moor, J. et al. (2009). Serum 25-hydroxyvitamin D3 levels are associated with breslow thickness at presentation and survival from melanoma. J. Clin. Oncol. 27, 5439-5444.
34. Ng, K., Meyerhardt, J.A., Wu, K., Feskanich, D., Hollis, B.W., Giovannucci, E.L., and Fuchs, C.S. (2008). Circulating 25-hydroxyvitamin d levels and survival in patients with colorectal cancer. J. Clin. Oncol. 26, 2984-2991.
35. Nurnberg, B., Graber, S., Gartner, B., Geisel, J., Pfohler, C., Schadendorf, D., Tilgen, W., and Reichrath, J. (2009). Reduced serum 25-hydroxyvitamin D levels in stage IV melanoma patients. Anticancer Res. 29, 3669-3674.
36. Pande, M., Thompson, P.A., Do, K.A., Sahin, A.A., Amos, C.I., Frazier, M.L., Bondy, M.L., and Brewster, A.M. (2013). Genetic variants in the vitamin D pathway and breast cancer disease-free survival. Carcinogenesis 34, 587-594.
37. Pani, M.A., Regulla, K., Segni, M., Hofmann, S., Hufner, M., Pasquino, A.M., Usadel, K.H., and Badenhoop, K. (2002). A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis. J. Clin. Endocrinol. Metab. 87, 2564-2567.
38. Randerson-Moor, J.A., Taylor, J.C., Elliott, F. et al. (2009). Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data. Eur. J. Cancer 45, 3271-3281.
39. Santonocito, C., Capizzi, R., Concolino, P. et al. (2007). Association between cutaneous melanoma, Breslow thickness and vitamin D receptor BsmI polymorphism. Br. J. Dermatol. 156, 277-282.
40. Schafer, A., Emmert, S., Kruppa, J. et al. (2012). No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study. Arch. Dermatol. Res. 304, 353-361.
41. Seifert, M., Rech, M., Meineke, V., Tilgen, W., and Reichrath, J. (2004). Differential biological effects of 1, 25-dihydroxyvitamin D3 on melanoma cell lines in vitro. J. Steroid Biochem. Mol. Biol. 89-90, 375-379.
42. Song, F., Qureshi, A.A., Zhang, J., Amos, C.I., Lee, J.E., Wei, Q., and Han, J. (2012). Exonuclease 1 (EXO1) gene variation and melanoma risk. DNA Repair 11, 304-309.
43. Tretli, S., Hernes, E., Berg, J.P., Hestvik, U.E., and Robsahm, T.E. (2009). Association between serum 25(OH)D and death from prostate cancer. Br. J. Cancer 100, 450-454.
44. Tryka, K.A., Hao, L., Sturcke, A., Jin, Y., Wang, Z.Y., Ziyabari, L., Lee, M., Popova, N., Sharopova, N., and Kimura, M. (2014). NCBI's database of genotypes and phenotypes: dbGaP. Nucleic Acids Res. 42, D975-D979.
45. Wacholder, S., Chanock, S., Garcia-Closas, M., El Ghormli, L., and Rothman, N. (2004). Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl Cancer Inst. 96, 434-442.
46. Wactawski-Wende, J., Kotchen, J.M., Anderson, G.L. et al. (2006). Calcium plus vitamin D supplementation and the risk of colorectal cancer. N. Engl. J. Med. 354, 684-696.
47. Wang, T.J., Zhang, F., Richards, J.B. et al. (2010). Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 376, 180-188.
48. Yin, J., Liu, H., Liu, Z., Wang, L. E., Chen, W.V., Zhu, D., Amos, C.I., Fang, S., Lee, J.E., and Wei, Q. (2015). Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. J. Invest. Dermatol. 135, 542-550.
49. Yuan, H., Liu, H., Liu, Z., Zhu, D., Amos, C.I., Fang, S., Lee, J.E., and Wei, Q. (2015). Genetic variants in Hippo pathway genes YAP1, TEAD1 and TEAD4 are associated with melanoma-specific survival. Int. J. Cancer 137, 638-645.
50. Yudoh, K., Matsuno, H., and Kimura, T. (1999). 1alpha, 25-dihydroxyvitamin D3 inhibits in vitro invasiveness through the extracellular matrix and in vivo pulmonary metastasis of B16 mouse melanoma. J. Lab. Clin. Med. 133, 120-128.
51. Zhang, W., Liu, H., Liu, Z., Zhu, D., Amos, C.I., Fang, S., Lee, J.E., and Wei, Q. (2015). Functional variants in notch pathway genes NCOR2, NCSTN and MAML2 predict survival of patients with cutaneous melanoma. Cancer Epidemiol. Biomarkers Prev. 24, 1101-1110.
52. Zhou, W., Heist, R.S., Liu, G. et al. (2007). Circulating 25-hydroxyvitamin D levels predict survival in early-stage non-small-cell lung cancer patients. J. Clin. Oncol. 25, 479-485.