COL1A1 polymorphism is associated with risks of osteosarcoma susceptibility and death

Tumor Biology

Volumn 35, Issue 2, 2014, Pages 1297-1305

  He, Maolin ^a   Wang, Zhe ^a   Zhao, Jinmin ^a   Chen, Yingbin ^a   Wu, Yang ^a  

^a GUANGXI MEDICAL UNIVERSITY   (China)

Author keywords

COL1A1; Osteosarcoma; Polymorphism; Survival; Susceptibility

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE I ALPHA 1; GENOMIC DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CANCER GRADING; CANCER MORTALITY; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CHILD; CHINESE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INVESTIGATIVE PROCEDURES; MAJOR CLINICAL STUDY; MALE; OSTEOSARCOMA; OVERALL SURVIVAL; PRIORITY JOURNAL; PROPORTIONAL HAZARDS MODEL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BONE NEOPLASMS; CHILD; COLLAGEN TYPE I; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; OSTEOSARCOMA; POLYMORPHISM, GENETIC; PROGNOSIS;

EID: 84898797247     PISSN: 10104283     EISSN: 14230380     Source Type: Journal    
DOI: 10.1007/s13277-013-1172-6     Document Type: Article

References (35)

1. Ottaviani G, Jaffe N. The etiology of osteosarcoma. Cancer Treat Res. 2009;152:15-32. doi:10.1007/978-1-4419-0284-9-2.
2. Fuchs B, Zhang K, Schabel A, Bolander ME, Sarkar G. Identification of twenty-two candidate markers for human osteogenic sarcoma. Gene. 2001;278(1-2):245-52. (Pubitemid 33055799)
3. Rosen G, Murphy ML, Huvos AG, Gutierrez M, Marcove RC. Chemotherapy, en bloc resection, and prosthetic bone replacement in the treatment of osteogenic sarcoma. Cancer. 1976;37(1):1-11.
4. Scotlandi K, Serra M, Nicoletti G, Vaccari M, Manara MC, Nini G, et al. Multidrug resistance and malignancy in human osteosarcoma. Cancer Res. 1996;56(10):2434-9. (Pubitemid 26154095)
5. Gorlick R. Current concepts on the molecular biology of osteosarcoma. Cancer Treat Res. 2009;152:467-78. doi:10.1007/978-1-4419-0284-9-27.
6. Foster L, Dall GF, Reid R, Wallace WH, Porter DE. Twentieth-century survival from osteosarcoma in childhood. Trends from 1933 to 2004. J Bone Joint Surg Br. 2007;89(9):1234-8. doi:10.1302/0301-620X.89B9.19255. (Pubitemid 350057963)
7. Gorlick R. Osteosarcoma: clinical practice and the expanding role of biology. J Musculoskelet Neuronal Interact. 2002;2(6):549-51. (Pubitemid 36157600)
8. Prockop DJ. Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth. J Biol Chem. 1990;265(26):15349-52.
9. Ertugay OC, Ata P, Kalaycik Ertugay C, Kaya KS, Tatlipinar A, Kulekci S. Association of COL1A1 polymorphism in Turkish patients with otosclerosis. Am J Otolaryngol. 2013. doi:10.1016/j.amjoto.2013.02.001.
10. Inamori Y, Ota M, Inoko H, Okada E, Nishizaki R, Shiota T, et al. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet. 2007;122(2):151-7. doi:10.1007/s00439-007-0388-1. (Pubitemid 47241780)
11. Zhao YP, Wang H, Fang M, Ji Q, Yang ZX, Gao CF. Study of the association between polymorphisms of the COL1A1 gene and HBV-related liver cirrhosis in Chinese patients. Dig Dis Sci. 2009;54(2):369-76. doi:10.1007/s10620-008-0340-9.
12. Kostik MM, Smirnov AM, Demin GS, Nuskina M, Scheplyagina LA, Larionova VI. Genetic polymorphisms of collagen type I alpha1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis. EPMA J. 2013;4(1):15. doi:10.1186/1878-5085-4-15.
13. Tilkeridis C, Bei T, Garantziotis S, Stratakis CA. Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. J Med Genet. 2005;42(7):e44. doi:10.1136/jmg.2005.033225.
14. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES. High-resolution haplotype structure in the human genome. Nat Genet. 2001;29(2):229-32. doi:10.1038/ng1001-229ng1001-229. (Pubitemid 32952664)
15. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science. 2002;296(5576):2225-9. doi:10.1126/science. (Pubitemid 34680308)
16. Zhang K, Deng M, Chen T, Waterman MS, Sun F. A dynamic programming algorithm for haplotype block partitioning. Proc Natl Acad Sci U S A. 2002;99(11):7335-9. doi:10.1073/pnas.102186799. (Pubitemid 34568693)
17. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004;74(1):106-20. doi:10.1086/381000. (Pubitemid 38085242)
18. Huang J, Lee C, Yu Q. A generalized log-rank test for interval-censored failure time data via multiple imputation. Stat Med. 2008;27(17):3217-26. doi:10.1002/sim.3211.
19. Ziegler A, Lange S, Bender R. Survival analysis: log rank test. Dtsch Med Wochenschr. 2007;132 Suppl 1:e39-41. doi:10.1055/s-2007-959040.
20. Provenzano F, D'Arrigo G, Zoccali C, Tripepi G. Cox regression analysis in epidemiological research. G Ital Nefrol. 2011;28(3):319-22.
21. Seigel DG. Cox regression analysis in clinical research. Arch Ophthalmol. 1990;108(6):888-9. (Pubitemid 20193855)
22. Enneking WF, Spanier SS, Goodman MA. A system for the surgical staging of musculoskeletal sarcoma. Clin Orthop Relat Res. 1980;153:106-20. (Pubitemid 11217753)
23. Enneking WF. A system of staging musculoskeletal neoplasms. Clin Orthop Relat Res. 1986;204:9-24. (Pubitemid 16069357)
24. Naumov VA, Generozov EV, Solovyov YN, Aliev MD, Kushlinsky NE. Association of FGFR3 and MDM2 gene nucleotide polymorphisms with bone tumors. Bull Exp Biol Med. 2012;153(6):869-73.
25. Hao T, Feng W, Zhang J, Sun YJ, Wang G. Association of four ERCC1 and ERCC2 SNPs with survival of bone tumour patients. Asian Pac J Cancer Prev. 2012;13(8):3821-4.
26. Liu Y, Lv B, He Z, Zhou Y, Han C, Shi G, et al. Lysyl oxidase polymorphisms and susceptibility to osteosarcoma. PLoS ONE. 2012;7(7):e41610. doi:10.1371/journal.pone.0041610.
27. Caronia D, Patino-Garcia A, Perez-Martinez A, Pita G, Moreno LT, Zalacain-Diez M, et al. Effect of ABCB1 and ABCC3 polymorphisms on osteosarcoma survival after chemotherapy: a pharmacogenetic study. PLoS ONE. 2011;6(10):e26091. doi:10.1371/journal.pone.0026091.
28. Jin H, Stewart TL, Hof RV, Reid DM, Aspden RM, Ralston S. A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture. J Bone Miner Res. 2009;24(3):448-54. doi:10.1359/jbmr.081111.
29. Panagopoulos I, Mertens F, Lofvenberg R, Mandahl N. Fusion of the COL1A1 and USP6 genes in a benign bone tumor. Cancer Genet Cytogenet. 2008;180(1):70-3. doi:10.1016/j.cancergencyto.2007.09.017. (Pubitemid 350192685)
30. Koenig A, Mueller C, Hasel C, Adler G, Menke A. Collagen type I induces disruption of E-cadherin-mediated cell-cell contacts and promotes proliferation of pancreatic carcinoma cells. Cancer Res. 2006;66(9):4662-71. doi:10.1158/0008-5472.CAN-05-2804.
31. Moro L, Arbini AA, Marra E, Greco M. Down-regulation of BRCA2 expression by collagen type I promotes prostate cancer cell proliferation. J Biol Chem. 2005;280(23):22482-91. doi:10.1074/jbc.M414091200. (Pubitemid 40827904)
32. Savage SA, Mirabello L, Wang Z, Gastier-Foster JM, Gorlick R, Khanna C, et al. Genome-wide association study identifies two susceptibility loci for osteosarcoma. Nat Genet. 2013;45(7):799-803. doi:10.1038/ng.2645ng.2645.
33. Amin N, van Duijn CM, Aulchenko YS. A genomic background based method for association analysis in related individuals. PLoS ONE. 2007;2(12):e1274. doi:10.1371/journal.pone.0001274.
34. Shi H, Bevier M, Johansson R, Enquist-Olsson K, Henriksson R, Hemminki K, et al. Prognostic impact of polymorphisms in the MYBL2 interacting genes in breast cancer. Breast Cancer Res Treat. 2012;131(3):1039-47. doi:10.1007/s10549-011-1826-2.
35. Bustamante M, Nogues X, Enjuanes A, Elosua R, Garcia-Giralt N, Perez-Edo L, et al. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporos Int. 2007;18(2):235-43. doi:10.1007/s00198-006-0225-8. (Pubitemid 46090226)