Single-Nucleotide Gene Polymorphisms Involving Cell Death Pathways: A Study of Chinese Patients with Lumbar Disc Herniation

References

• McBeth, J., and Jones, K. (2007). Epidemiology of chronic musculoskeletal pain. Best Pract. Res. Clin. Rheumatol. 21(3):403–425.
   PubMed Web of Science ®Google Scholar
• Katz, J.N. (2006). Lumbar disc disorders and low-back pain: Socioeconomic factors and consequences. J. Bone Joint Surg. Am. 88(Suppl. 2):21–24.
   PubMed Web of Science ®Google Scholar
• Reiso, H., Nygård, J.F., Jørgensen, G.S., Holanger, R., Soldal, D., and Bruusgaard, D. (2003). Back to work: Predictors of return to work among patients with back disorders certified as sick. Spine 28(13):1468–1473.
   PubMed Web of Science ®Google Scholar
• Dagenais, S., Caro, J., and Haldeman, S. (2008). A systematic review of low back pain cost of illness studies in the United States and internationally. Spine J. 8(1):8–20.
   PubMed Web of Science ®Google Scholar
• Kalichman, L., and Hunter, D.J. (2008). The genetics of intervertebral disc degeneration. Familial predisposition and heritability estimation. Joint Bone Spine 75(4):383–387.
   PubMed Web of Science ®Google Scholar
• Batti’e, M.C., Videman, T., Levalahti, E., Gill, K., and Kaprio, J. (2007). Heritability of low back pain and the role of disc degeneration. Pain 131(3):272–280.
   PubMed Web of Science ®Google Scholar
• Solovieva, S., Leino-Arjas, P., Saarela, J., Luoma, K., Raininko, R., and Riihimäki, H. (2004). Possible association of interleukin1 gene locus polymorphisms with low back pain. Pain 109(1–2):8–19.
   PubMed Web of Science ®Google Scholar
• Chan, D., Song, Y., Sham, P., and Cheung, K.M. (2006). Genetics of disc degeneration. Eur. Spine J. 15(Suppl. 3):S317–S325.
   PubMed Web of Science ®Google Scholar
• Annunen, S., Paassilta, P., Lohiniva, J., Perälä, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kröger, H., Lähde, S., Vanharanta, H., Ryhänen, L., Göring, H.H., Ott, J., Prockop, D.J., and Ala-Kokko, L. (1999). An allele of COL9A2 associated with intervertebral disc disease. Science 285(5426):409–412.
   PubMed Web of Science ®Google Scholar
• Tilkeridis, C., Bei, T., Garantziotis, S., and Stratakis, C. (2005). Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. J Med. Genet. Subsets 42(7):e44.
   PubMedGoogle Scholar
• Solovieva, S., Noponen, N., M¨ännikk¨ö, M., Leino-Arjas, P., Luoma, K., Raininko, R., Ala-Kokko, L., and Riihimäki, H. (2007). Association between the aggrecan gene variable number of tandem repeats polymorphism and intervertebral disc degeneration. Spine 32(16):1700–1705.
   PubMed Web of Science ®Google Scholar
• Seki, S., Kawaguchi, Y., Chiba, K., Mikami, Y., Kizawa, H., Oya, T., Mio, F., Mori, M., Miyamoto, Y., Masuda, I., Tsunoda, T., Kamata, M., Kubo, T., Toyama, Y., Kimura, T., Nakamura, Y., and Ikegawa, S. (2005). A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat. Genet. 37(6):607–612.
   PubMed Web of Science ®Google Scholar
• Song, Y.Q., Cheung, K.M., Ho, D.W., Poon, S.C., Chiba, K., Kawaguchi, Y., Hirose, Y., Alini, M., Grad, S., Yee, A.F., Leong, J., Luk, K.D., Yip, S.P., Karppinen, J., Cheah, K.S., Sham, P., Ikegawa, S., and Chan, D. (2008). Association of the asporin D14 allele with lumbar-disc degeneration in Asians. Am. J. Hum. Genet. 82(3):744–747.
   PubMed Web of Science ®Google Scholar
• Videman, T., Leppävuori, J., Kaprio, J., Battié, M.C., Gibbons, L.E., Peltonen, L., and Koskenvuo, M. (1998). Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine 23(23):2477–2485.
   PubMed Web of Science ®Google Scholar
• Solovieva, S., Kouhia, S., Leino-Arjas, P., Ala-Kokko, L., Luom, K., Raininko, R., Saarela, J., and Riihimäki, H. (2004). Interleukin 1 polymorphisms and intervertebral disc degeneration. Epidemiology 15(5):626–633.
   PubMed Web of Science ®Google Scholar
• Takahashi, M., Haro, H., Wakabayashi, Y., Kawa-uchi, T., Komori, H., and Shinomiya, K. (2001). The association of degeneration of the intervertebral disc with 5a/6a polymorphism in the promoter of the human matrix metalloproteinase-3 gene. J. Bone Joint Surg. 83(4):491–495.
   Google Scholar
• Dong, D.M., Yao, M., Liu, B., Sun, C.Y., Jiang, Y.Q., and Wang, Y.S. (2007). Association between the −1306 C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults. Eur. Spine J. 16(11):1958–1961.
   PubMed Web of Science ®Google Scholar
• Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., and Ikegawa, S. (2007). A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. Am. J. Hum. Genet. 81(6):1271–1277.
   PubMed Web of Science ®Google Scholar
• Urano, T., Narusawa, K., Shiraki, M., Usui, T., Sasaki, N., Hosoi, T., Ouchi, Y., Nakamura, T., and Inoue, S. (2008). Association of a single nucleotide polymorphism in the insulin-like growth factor-1 receptor gene with spinal disc degeneration in postmenopausal Japanese women. Spine 33(11):1256–1261.
   PubMed Web of Science ®Google Scholar
• Song, Y.Q., Ho, D.W., Karppinen, J., Kao, P.Y., Fan, B.J., Luk, K.D., Yip, S.P., Leong, J.C., Cheah, K.S., Sham, P., Chan, D., and Cheung, K.M. (2008). Association between promoter-1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. BMC Med. Genet. 9:38.
   PubMedGoogle Scholar
• Sun, Z.M., Miao, L., Zhang, Y.G., and Ming, L. (2009). Association between the −1562 C/T polymorphism of matrix metalloproteinase-9 gene and lumbar disc disease in the young adult population in North China. Connect. Tissue Res. 50(3):181–185.
   PubMed Web of Science ®Google Scholar
• Ariga, K., Miyamoto, S., Nakase, T., Okuda, S., Meng, W., Yonenobu, K., and Yoshikawa, H. (2001). The relationship between apoptosis of endplate chondrocytes and degeneration of the intervertebral discs. Spine 26(22):2414–2420.
   PubMed Web of Science ®Google Scholar
• Park, J.B., Kim, K.W., Han, C.W., and Chang, H. (2001). Expression of Fas receptor on disc cells in herniated lumbar disc tissue. Spine 26(2):142–146.
   PubMed Web of Science ®Google Scholar
• Park, J.B., Chang, H., and Kim, K.W. (2001). Expression of Fas ligand and apoptosis of disc cells in herniated lumbar disc tissue. Spine 26(60):618–621.
   PubMed Web of Science ®Google Scholar
• Park, J.B., Park, I.C., Park, S.J., Jin, H.O., Lee, J.K., and Riew, K.D. (2006). Anti-apoptotic effects of caspase inhibitors on rat intervertebral disc cells. J. Bone Joint Surg. Am. 88(4):771–779.
   PubMedGoogle Scholar
• Kaneyama, S., Nishida, K., Takada, T., Suzuki, T., Shimomura, T., Maeno, K., Kurosaka, M., and Doita, M. (2008). Fas ligand expression on human nucleus pulposus cells decreases with disc degeneration processes. J. Orthop. Sci. 13(2):130–135.
   PubMed Web of Science ®Google Scholar
• Takada, T., Nishida, K., Doita, M., and Kurosaka, M. (2002). Fas ligand exists on intervertebral disc cells: A potential molecular mechanism for immune privilege of the disc. Spine 27(14):1526–1530.
   PubMed Web of Science ®Google Scholar
• Sibley, K., Rollinson, S., Allan, J.M., Smith, A.G., Law, G.R., Roddam, P.L., Skibola, C.F., Smith, M.T., and Morgan, G.J. (2003). Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res. 63(15):4327–4330.
   PubMed Web of Science ®Google Scholar
• Kanemitsu, S., Ihara, K., Saifddin, A., Otsuka, T., Takeuchi, T., Nagayama, J., Kuwano, M., and Hara, T. (2002). A functional polymorphism in Fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus. J. Rheumatol. 29(6):1183–1188.
   PubMed Web of Science ®Google Scholar
• Wu, J., Metz, C., Xu, X., Abe, R., Gibson, A.W., Edberg, J.C., Cooke, J., Xie, F., Cooper, G.S., and Kimberly, R.P. (2003). A novel polymorphic CAAT/enhancer-binding protein β element in the FasL gene promoter alters Fas ligand expression: A candidate background gene in African American systemic lupus erythematosus patients. J. Immunol. 170(1):132–138.
   PubMed Web of Science ®Google Scholar
• Sun, T., Miao, X., Zhang, X., Tan, W., Xiong, P., and Lin, D. (2004). Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma. J. Natl. Cancer Inst. 96(13): 1030–1036.
   PubMed Web of Science ®Google Scholar
• Schneiderman, G., Flannigan, B., Kingston, S., Thomas, J., Dillin, W.H., and Watkins, R.G. (1987). Magnetic resonance imaging in the diagnosis of disc degeneration: Correlation with discography. Spine 12(3):276–281.
   PubMed Web of Science ®Google Scholar
• Kawaguchi, Y., Osada, R., Kanamori, M., Ishihara, H., Ohmori, K., Matsui, H., and Kimura, T. (1999). Association between an aggrecan gene polymorphism and lumbar disc degeneration. Spine 24(23): 2456–2460.
   PubMed Web of Science ®Google Scholar
• Zhang, Y.G., Sun, Z.M., Zhang, Z., Liu, J., and Guo, X. (2009). Risk factors for lumbar intervertebral disc herniation in Chinese population. A case-control study. Spine 34(25):E918–E922.
   Google Scholar
• Stuck, B.J., Pani, M.A., Besrour, F., Segni, M., Krause, M., Usadel, K.H., and Badenhoop, K. (2003). Fas ligand gene polymorphisms are not associated with Hashimoto’s thyroiditis and Graves’ disease. Hum. Immunol. 64(2):285–289.
   PubMed Web of Science ®Google Scholar
• Wang, J., Tang, T., Yang, H., Yao, X., Chen, L., Liu, W., and Li, T. (2007). The expression of Fas ligand on normal and stabbed-disc cells in a rabbit model of intervertebral disc degeneration: A possible pathogenesis. J. Neurosurg. Spine 6(5):425–430.
   PubMed Web of Science ®Google Scholar
• Nagata, S., and Golstein, P. (1995). The Fas death factor. Science 267(5207):1449–1456.
   PubMedGoogle Scholar
• Ju, S.T., Panka, D.J., Cui, H., Ettinger, R., el-Khatib, M., Sherr, D.H., Stanger, B.Z., and Marshak-Rothstein, A. (1995). Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation. Nature 373(6513):444–448.
   PubMed Web of Science ®Google Scholar
• Ariga, K., Yonenobu, K., Nakase, T., Hosono, N., Okuda, S., Meng, W., Tamura, Y., and Yoshikawa, H. (2003). Mechanical stress-induced apoptosis of endplate chondrocytes in organ-cultured mouse intervertebral discs: An ex vivo study. Spine 28(14):1528–1533.
   PubMed Web of Science ®Google Scholar
• Lotz, J.C., and Chin, J.R. (2000). Intervertebral discs cell death is dependent on the magnitude and duration of spinal loading. Spine 25(12): 1477–1483.
   PubMed Web of Science ®Google Scholar
• Court, C., Colliou, O.K., Chin, J.R., Liebenberg, E., Bradford, D.S., and Lotz, J.C. (2001). The effect of static in vivo bending on the murine intervertebral disc. Spine 1(4):239–245.
   Google Scholar
• Walsh, A.J., and Lotz, J.C. (2004). Biological response of the intervertebral disc to dynamic loading. J. Biomech. 37(3):329–337.
   PubMed Web of Science ®Google Scholar
• Bijl, M., Horst, G., Limburg, P.C., and Kallenberg, C.G. (2001). Effects of smoking on activation markers, Fas expression and apoptosis of peripheral blood lymphocytes. Eur. J. Clin. Invest. 31(6):550–553.
   PubMed Web of Science ®Google Scholar
• Zhang, Z., Wang, L.E., Sturgis, E.M., El-Naggar, A.K., Hong, W.K., Amos, C.I., Spitz, M.R., and Wei, Q. (2006). Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck. Clin. Cancer Res. 12(18):5596–5602.
   PubMed Web of Science ®Google Scholar
• Jim, J.J., Noponen-Hietala, N., Cheung, K.M., Ott, J., Karppinen, J., Sahraravand, A., Luk, K.D., Yip, S.P., Sham, P.C., Song, Y.Q., Leong, J.C., Cheah, K.S., Ala-Kokko, L., and Chan, D. (2005). The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. Spine 30(24):2735–2742.
   PubMed Web of Science ®Google Scholar
• Zhu, G.B., Jiang, X.R., Xia, C.L., Sun, Y.J., Zeng, Q.S., Wu, X.M., and Li, X.C. (2011). Association of FAS and FAS ligand polymorphisms with the susceptibility and severity of lumbar disc degeneration in Chinese Han population. Biomarkers 16(6):485–490.
   PubMed Web of Science ®Google Scholar