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Erschienen in: European Spine Journal 3/2006

01.08.2006 | Review

Genetics of disc degeneration

verfasst von: Danny Chan, Youqiang Song, Pak Sham, Kenneth M. C. Cheung

Erschienen in: European Spine Journal | Sonderheft 3/2006

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Abstract

Low back pain from degenerative disc disease (DDD) is one of the most common disorders seen in general and orthopaedic practices. DDD has been attributed to the accumulation of environmental factors, primarily mechanical insults and injuries, imposed on the “normal” aging changes. However, recent studies have shown an association between genetic influences and disc degeneration, with risk of developing DDD quoted to be increased up to six times that of the general population. It is likely that DDD is a complex, multifactorial disease determined by the interplay between gene(s) and the environment. This review focuses on the evidence for genetic disposition, the genes or biological processes that are implicated, and the need to consolidate resources and clarify phenotype definition to take advantage of the new technologies in genetic analysis to enhance our understanding of this condition.
Literatur
2.
Zurück zum Zitat Altshuler D, Brooks LD, Chakravarti A et al (2005) A haplotype map of the human genome. Nature 437:1299–1320CrossRef Altshuler D, Brooks LD, Chakravarti A et al (2005) A haplotype map of the human genome. Nature 437:1299–1320CrossRef
3.
Zurück zum Zitat Annunen S, Paassilta P, Lohiniva J et al (1999) An allele of COL9A2 associated with intervertebral disc disease. Science 285:409–412PubMedCrossRef Annunen S, Paassilta P, Lohiniva J et al (1999) An allele of COL9A2 associated with intervertebral disc disease. Science 285:409–412PubMedCrossRef
4.
Zurück zum Zitat Antoniou J, Steffen T, Nelson F et al (1996) The human lumbar intervertebral disc: evidence for changes in the biosynthesis and denaturation of the extracellular matrix with growth, maturation, ageing, and degeneration. J Clin Invest 98:996–1003PubMedCrossRef Antoniou J, Steffen T, Nelson F et al (1996) The human lumbar intervertebral disc: evidence for changes in the biosynthesis and denaturation of the extracellular matrix with growth, maturation, ageing, and degeneration. J Clin Invest 98:996–1003PubMedCrossRef
5.
Zurück zum Zitat Aszodi A, Hunziker EB, Olsen BR et al (2001) The role of collagen II and cartilage fibril-associated molecules in skeletal development. Osteoarthritis Cartilage 9(Suppl A):S150–S159PubMed Aszodi A, Hunziker EB, Olsen BR et al (2001) The role of collagen II and cartilage fibril-associated molecules in skeletal development. Osteoarthritis Cartilage 9(Suppl A):S150–S159PubMed
6.
Zurück zum Zitat Battie MC, Haynor DR, Fisher LD et al (1995) Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. J Bone Joint Surg Am 77:1662–1670PubMed Battie MC, Haynor DR, Fisher LD et al (1995) Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. J Bone Joint Surg Am 77:1662–1670PubMed
7.
Zurück zum Zitat Battie MC, Videman T, Gibbons LE et al (1995) 1995 Volvo Award in clinical sciences. Determinants of lumbar disc degeneration. A study relating lifetime exposures and magnetic resonance imaging findings in identical twins. Spine 20:2601–2612PubMed Battie MC, Videman T, Gibbons LE et al (1995) 1995 Volvo Award in clinical sciences. Determinants of lumbar disc degeneration. A study relating lifetime exposures and magnetic resonance imaging findings in identical twins. Spine 20:2601–2612PubMed
8.
Zurück zum Zitat Boden SD, Davis DO, Dina TS et al (1990) Abnormal magnetic-resonance scans of the lumbar spine in asymptomatic subjects. A prospective investigation. J Bone Joint Surg Am 72:403–408PubMed Boden SD, Davis DO, Dina TS et al (1990) Abnormal magnetic-resonance scans of the lumbar spine in asymptomatic subjects. A prospective investigation. J Bone Joint Surg Am 72:403–408PubMed
9.
Zurück zum Zitat Boos N, Rieder R, Schade V et al (1995) 1995 Volvo Award in clinical sciences. The diagnostic accuracy of magnetic resonance imaging, work perception, and psychosocial factors in identifying symptomatic disc herniations. Spine 20:2613–2625PubMed Boos N, Rieder R, Schade V et al (1995) 1995 Volvo Award in clinical sciences. The diagnostic accuracy of magnetic resonance imaging, work perception, and psychosocial factors in identifying symptomatic disc herniations. Spine 20:2613–2625PubMed
10.
Zurück zum Zitat Caplan PS, Freedman LM, Connelly TP (1966) Degenerative joint disease of the lumbar spine in coal miners—a clinical and x-ray study. Arthritis Rheum 9:693–702PubMedCrossRef Caplan PS, Freedman LM, Connelly TP (1966) Degenerative joint disease of the lumbar spine in coal miners—a clinical and x-ray study. Arthritis Rheum 9:693–702PubMedCrossRef
12.
Zurück zum Zitat Cheung KMC, Chan D, Karppinen J et al (2006) Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in Chinese. Spine 31:1143–1148PubMedCrossRef Cheung KMC, Chan D, Karppinen J et al (2006) Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in Chinese. Spine 31:1143–1148PubMedCrossRef
13.
Zurück zum Zitat Colhoun HM, McKeigue PM, Davey SG (2003) Problems of reporting genetic associations with complex outcomes. Lancet 361:865–872PubMedCrossRef Colhoun HM, McKeigue PM, Davey SG (2003) Problems of reporting genetic associations with complex outcomes. Lancet 361:865–872PubMedCrossRef
14.
Zurück zum Zitat Dai LY (1998) The relationship between osteoarthritis and osteoporosis in the spine. Clin Rheumatol 17:44–46PubMedCrossRef Dai LY (1998) The relationship between osteoarthritis and osteoporosis in the spine. Clin Rheumatol 17:44–46PubMedCrossRef
15.
Zurück zum Zitat Dequeker J (1997) Inverse relationship of interface between osteoporosis and osteoarthritis. J Rheumatol 24:795–798PubMed Dequeker J (1997) Inverse relationship of interface between osteoporosis and osteoarthritis. J Rheumatol 24:795–798PubMed
16.
Zurück zum Zitat Doege KJ, Coulter SN, Meek LM et al (1997) A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population. J Biol Chem 272:13974–13979PubMedCrossRef Doege KJ, Coulter SN, Meek LM et al (1997) A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population. J Biol Chem 272:13974–13979PubMedCrossRef
17.
Zurück zum Zitat Dominici R, Cattaneo M, Malferrari G et al (2002) Cloning and functional analysis of the allelic polymorphism in the transcription regulatory region of interleukin-1 alpha. Immunogenetics 54:82–86PubMedCrossRef Dominici R, Cattaneo M, Malferrari G et al (2002) Cloning and functional analysis of the allelic polymorphism in the transcription regulatory region of interleukin-1 alpha. Immunogenetics 54:82–86PubMedCrossRef
18.
Zurück zum Zitat Fang Y, Van Meurs JB, d’Alesio A et al (2005) Promoter and 3’-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the Rotterdam study. Am J Hum Genet 77:807–823PubMedCrossRef Fang Y, Van Meurs JB, d’Alesio A et al (2005) Promoter and 3’-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the Rotterdam study. Am J Hum Genet 77:807–823PubMedCrossRef
19.
Zurück zum Zitat Feng H, Danfelter M, Stromqvist B et al (2006) Extracellular matrix in disc degeneration. J Bone Joint Surg Am 88(Suppl 1):25–29PubMedCrossRef Feng H, Danfelter M, Stromqvist B et al (2006) Extracellular matrix in disc degeneration. J Bone Joint Surg Am 88(Suppl 1):25–29PubMedCrossRef
20.
Zurück zum Zitat Fernandes I, Hampson G, Cahours X et al (1997) Abnormal sulfate metabolism in vitamin D-deficient rats. J Clin Invest 100:2196–2203PubMedCrossRef Fernandes I, Hampson G, Cahours X et al (1997) Abnormal sulfate metabolism in vitamin D-deficient rats. J Clin Invest 100:2196–2203PubMedCrossRef
21.
Zurück zum Zitat Friberg S, Hirsch C (1992) Anatomical and clinical studies on lumbar disc degeneration, 1950. Clin Orthop Relat Res 279:3–7PubMed Friberg S, Hirsch C (1992) Anatomical and clinical studies on lumbar disc degeneration, 1950. Clin Orthop Relat Res 279:3–7PubMed
22.
Zurück zum Zitat Frymoyer JW (1992) Lumbar disk disease: epidemiology. Instr Course Lect 41:217–223PubMed Frymoyer JW (1992) Lumbar disk disease: epidemiology. Instr Course Lect 41:217–223PubMed
23.
Zurück zum Zitat Goldring MB, Birkhead JR, Suen LF et al (1994) Interleukin-1 beta-modulated gene expression in immortalized human chondrocytes. J Clin Invest 94:2307–2316PubMedCrossRef Goldring MB, Birkhead JR, Suen LF et al (1994) Interleukin-1 beta-modulated gene expression in immortalized human chondrocytes. J Clin Invest 94:2307–2316PubMedCrossRef
24.
Zurück zum Zitat Goupille P, Jayson MI, Valat JP et al (1998) Matrix metalloproteinases: the clue to intervertebral disc degeneration? Spine 23:1612–1626PubMedCrossRef Goupille P, Jayson MI, Valat JP et al (1998) Matrix metalloproteinases: the clue to intervertebral disc degeneration? Spine 23:1612–1626PubMedCrossRef
25.
Zurück zum Zitat Grant SF, Reid DM, Blake G et al (1996) Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 14:203–205PubMedCrossRef Grant SF, Reid DM, Blake G et al (1996) Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 14:203–205PubMedCrossRef
26.
Zurück zum Zitat Haussler MR, Whitfield GK, Haussler CA et al (1998) The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 13:325–349PubMedCrossRef Haussler MR, Whitfield GK, Haussler CA et al (1998) The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 13:325–349PubMedCrossRef
27.
Zurück zum Zitat Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95–108PubMedCrossRef Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95–108PubMedCrossRef
28.
Zurück zum Zitat Ioannidis JP, Ntzani EE, Trikalinos TA et al (2001) Replication validity of genetic association studies. Nat Genet 29:306–309PubMedCrossRef Ioannidis JP, Ntzani EE, Trikalinos TA et al (2001) Replication validity of genetic association studies. Nat Genet 29:306–309PubMedCrossRef
29.
Zurück zum Zitat Jim JJ, Noponen-Hietala N, Cheung KM et al (2005) The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. Spine 30:2735–2742PubMedCrossRef Jim JJ, Noponen-Hietala N, Cheung KM et al (2005) The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. Spine 30:2735–2742PubMedCrossRef
30.
Zurück zum Zitat Kales SN, Linos A, Chatzis C et al (2004) The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. Spine 29:1266–1270PubMedCrossRef Kales SN, Linos A, Chatzis C et al (2004) The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. Spine 29:1266–1270PubMedCrossRef
31.
Zurück zum Zitat Kang JD, Georgescu HI, Intyre-Larkin L et al (1996) Herniated lumbar intervertebral discs spontaneously produce matrix metalloproteinases, nitric oxide, interleukin-6, and prostaglandin E2. Spine 21:271–277PubMedCrossRef Kang JD, Georgescu HI, Intyre-Larkin L et al (1996) Herniated lumbar intervertebral discs spontaneously produce matrix metalloproteinases, nitric oxide, interleukin-6, and prostaglandin E2. Spine 21:271–277PubMedCrossRef
32.
Zurück zum Zitat Kawaguchi Y, Osada R, Kanamori M et al (1999) Association between an aggrecan gene polymorphism and lumbar disc degeneration. Spine 24:2456–2460PubMedCrossRef Kawaguchi Y, Osada R, Kanamori M et al (1999) Association between an aggrecan gene polymorphism and lumbar disc degeneration. Spine 24:2456–2460PubMedCrossRef
33.
Zurück zum Zitat Kawaguchi Y, Kanamori M, Ishihara H et al (2002) The association of lumbar disc disease with vitamin-D receptor gene polymorphism. J Bone Joint Surg Am 84-A:2022–2028PubMed Kawaguchi Y, Kanamori M, Ishihara H et al (2002) The association of lumbar disc disease with vitamin-D receptor gene polymorphism. J Bone Joint Surg Am 84-A:2022–2028PubMed
34.
Zurück zum Zitat Keen RW, Hart DJ, Lanchbury JS et al (1997) Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 40:1444–1449PubMedCrossRef Keen RW, Hart DJ, Lanchbury JS et al (1997) Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 40:1444–1449PubMedCrossRef
35.
Zurück zum Zitat Kellgren J, Lawrence JS (1958) Osteo-arthrosis and disk degeneration in an urban population. Ann Rheum Dis 17:388–397PubMedCrossRef Kellgren J, Lawrence JS (1958) Osteo-arthrosis and disk degeneration in an urban population. Ann Rheum Dis 17:388–397PubMedCrossRef
36.
Zurück zum Zitat Klein RJ, Zeiss C, Chew EY et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385–389PubMedCrossRef Klein RJ, Zeiss C, Chew EY et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385–389PubMedCrossRef
37.
Zurück zum Zitat Lawrence JS, Molyneux MK, Dingwall-Fordyce I (1966) Rheumatism in foundry workers. Br J Ind Med 23:42–52PubMed Lawrence JS, Molyneux MK, Dingwall-Fordyce I (1966) Rheumatism in foundry workers. Br J Ind Med 23:42–52PubMed
38.
Zurück zum Zitat Lorenzo P, Bayliss MT, Heinegard D (1998) A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. J Biol Chem 273:23463–23468PubMedCrossRef Lorenzo P, Bayliss MT, Heinegard D (1998) A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. J Biol Chem 273:23463–23468PubMedCrossRef
39.
Zurück zum Zitat Matsui H, Kanamori M, Ishihara H et al (1998) Familial predisposition for lumbar degenerative disc disease. A case–control study. Spine 23:1029–1034PubMedCrossRef Matsui H, Kanamori M, Ishihara H et al (1998) Familial predisposition for lumbar degenerative disc disease. A case–control study. Spine 23:1029–1034PubMedCrossRef
40.
Zurück zum Zitat Matsui Y, Wu JJ, Ann WM et al (2003) Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage. Matrix Biol 22:123–129PubMedCrossRef Matsui Y, Wu JJ, Ann WM et al (2003) Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage. Matrix Biol 22:123–129PubMedCrossRef
41.
Zurück zum Zitat Moore RJ, Vernon-Roberts B, Fraser RD et al (1996) The origin and fate of herniated lumbar intervertebral disc tissue. Spine 21:2149–2155PubMedCrossRef Moore RJ, Vernon-Roberts B, Fraser RD et al (1996) The origin and fate of herniated lumbar intervertebral disc tissue. Spine 21:2149–2155PubMedCrossRef
42.
Zurück zum Zitat Morrison NA, Qi JC, Tokita A et al (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367:284–287PubMedCrossRef Morrison NA, Qi JC, Tokita A et al (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367:284–287PubMedCrossRef
43.
Zurück zum Zitat Noponen-Hietala N, Kyllonen E, Mannikko M et al (2003) Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. Ann Rheum Dis 62:1208–1214PubMedCrossRef Noponen-Hietala N, Kyllonen E, Mannikko M et al (2003) Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. Ann Rheum Dis 62:1208–1214PubMedCrossRef
44.
Zurück zum Zitat Paassilta P, Lohiniva J, Goring HH et al (2001) Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 285:1843–1849PubMedCrossRef Paassilta P, Lohiniva J, Goring HH et al (2001) Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 285:1843–1849PubMedCrossRef
45.
Zurück zum Zitat Pluijm SM, van Essen HW, Bravenboer N et al (2004) Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women. Ann Rheum Dis 63:71–77PubMedCrossRef Pluijm SM, van Essen HW, Bravenboer N et al (2004) Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women. Ann Rheum Dis 63:71–77PubMedCrossRef
46.
Zurück zum Zitat Pociot F, Molvig J, Wogensen L et al (1992) A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 22:396–402PubMedCrossRef Pociot F, Molvig J, Wogensen L et al (1992) A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 22:396–402PubMedCrossRef
47.
Zurück zum Zitat Postacchini F, Lami R, Pugliese O (1988) Familial predisposition to discogenic low-back pain. An epidemiologic and immunogenetic study. Spine 13:1403–1406PubMedCrossRef Postacchini F, Lami R, Pugliese O (1988) Familial predisposition to discogenic low-back pain. An epidemiologic and immunogenetic study. Spine 13:1403–1406PubMedCrossRef
48.
Zurück zum Zitat Richardson JK, Chung T, Schultz JS et al (1997) A familial predisposition toward lumbar disc injury. Spine 22:1487–1492PubMedCrossRef Richardson JK, Chung T, Schultz JS et al (1997) A familial predisposition toward lumbar disc injury. Spine 22:1487–1492PubMedCrossRef
49.
50.
Zurück zum Zitat Ross JS, Masaryk TJ, Schrader M et al (1990) MR imaging of the postoperative lumbar spine: assessment with gadopentetate dimeglumine. AJNR Am J Neuroradiol 11:771–776PubMed Ross JS, Masaryk TJ, Schrader M et al (1990) MR imaging of the postoperative lumbar spine: assessment with gadopentetate dimeglumine. AJNR Am J Neuroradiol 11:771–776PubMed
51.
Zurück zum Zitat Rossignol M, Lortie M, Ledoux E (1993) Comparison of spinal health indicators in predicting spinal status in a 1-year longitudinal study. Spine 18:54–60PubMedCrossRef Rossignol M, Lortie M, Ledoux E (1993) Comparison of spinal health indicators in predicting spinal status in a 1-year longitudinal study. Spine 18:54–60PubMedCrossRef
52.
Zurück zum Zitat Roughley P, Martens D, Rantakokko J et al (2006) The involvement of aggrecan polymorphism in degeneration of human intervertebral disc and articular cartilage. Eur Cell Mater 11:1–7PubMed Roughley P, Martens D, Rantakokko J et al (2006) The involvement of aggrecan polymorphism in degeneration of human intervertebral disc and articular cartilage. Eur Cell Mater 11:1–7PubMed
53.
Zurück zum Zitat Sambrook PN, MacGregor AJ, Spector TD (1999) Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. Arthritis Rheum 42:366–372PubMedCrossRef Sambrook PN, MacGregor AJ, Spector TD (1999) Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. Arthritis Rheum 42:366–372PubMedCrossRef
54.
Zurück zum Zitat Seki S, Kawaguchi Y, Chiba K et al (2005) A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat Genet 37:607–612PubMedCrossRef Seki S, Kawaguchi Y, Chiba K et al (2005) A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat Genet 37:607–612PubMedCrossRef
55.
Zurück zum Zitat Shinmei M, Masuda K, Kikuchi T et al (1989) Interleukin 1, tumor necrosis factor, and interleukin 6 as mediators of cartilage destruction. Semin Arthritis Rheum 18:27–32PubMedCrossRef Shinmei M, Masuda K, Kikuchi T et al (1989) Interleukin 1, tumor necrosis factor, and interleukin 6 as mediators of cartilage destruction. Semin Arthritis Rheum 18:27–32PubMedCrossRef
56.
Zurück zum Zitat Solovieva S, Lohiniva J, Leino-Arjas P et al (2002) COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene–environment interaction. Spine 27:2691–2696PubMedCrossRef Solovieva S, Lohiniva J, Leino-Arjas P et al (2002) COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene–environment interaction. Spine 27:2691–2696PubMedCrossRef
57.
Zurück zum Zitat Solovieva S, Kouhia S, Leino-Arjas P et al (2004) Interleukin 1 polymorphisms and intervertebral disc degeneration. Epidemiology 15:626–633PubMedCrossRef Solovieva S, Kouhia S, Leino-Arjas P et al (2004) Interleukin 1 polymorphisms and intervertebral disc degeneration. Epidemiology 15:626–633PubMedCrossRef
58.
Zurück zum Zitat Solovieva S, Leino-Arjas P, Saarela J et al (2004) Possible association of interleukin 1 gene locus polymorphisms with low back pain. Pain 109:8–19PubMedCrossRef Solovieva S, Leino-Arjas P, Saarela J et al (2004) Possible association of interleukin 1 gene locus polymorphisms with low back pain. Pain 109:8–19PubMedCrossRef
59.
Zurück zum Zitat Solovieva S, Lohiniva J, Leino-Arjas P et al (2006) Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. Eur Spine J 15(5):613–619PubMedCrossRef Solovieva S, Lohiniva J, Leino-Arjas P et al (2006) Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. Eur Spine J 15(5):613–619PubMedCrossRef
60.
Zurück zum Zitat Spector TD, MacGregor AJ (2004) Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 12(Suppl A):S39–S44PubMedCrossRef Spector TD, MacGregor AJ (2004) Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 12(Suppl A):S39–S44PubMedCrossRef
61.
Zurück zum Zitat Takahashi M, Haro H, Wakabayashi Y et al (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 Br 83:491–495PubMedCrossRef Takahashi M, Haro H, Wakabayashi Y et al (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 Br 83:491–495PubMedCrossRef
62.
Zurück zum Zitat Thiele H, Sakano M, Kitagawa H et al (2004) Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA 101:10155–10160PubMedCrossRef Thiele H, Sakano M, Kitagawa H et al (2004) Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA 101:10155–10160PubMedCrossRef
63.
Zurück zum Zitat Thomas DC, Clayton DG (2004) Betting odds and genetic associations. J Natl Cancer Inst 96:421–423PubMedCrossRef Thomas DC, Clayton DG (2004) Betting odds and genetic associations. J Natl Cancer Inst 96:421–423PubMedCrossRef
64.
Zurück zum Zitat Tilkeridis C, Bei T, Garantziotis S et al (2005) Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. J Med Genet 42:e44PubMedCrossRef Tilkeridis C, Bei T, Garantziotis S et al (2005) Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. J Med Genet 42:e44PubMedCrossRef
65.
Zurück zum Zitat Tokita A, Matsumoto H, Morrison NA et al (1996) Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women. J Bone Miner Res 11:1003–1009PubMedCrossRef Tokita A, Matsumoto H, Morrison NA et al (1996) Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women. J Bone Miner Res 11:1003–1009PubMedCrossRef
66.
Zurück zum Zitat Uitterlinden AG, Burger H, Huang Q et al (1997) Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 100:259–263PubMedCrossRef Uitterlinden AG, Burger H, Huang Q et al (1997) Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 100:259–263PubMedCrossRef
67.
Zurück zum Zitat Uitterlinden AG, Burger H, Huang Q et al (1998) Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338:1016–1021PubMedCrossRef Uitterlinden AG, Burger H, Huang Q et al (1998) Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338:1016–1021PubMedCrossRef
68.
Zurück zum Zitat Uitterlinden AG, Fang Y, Van Meurs JB et al (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338:143–156PubMedCrossRef Uitterlinden AG, Fang Y, Van Meurs JB et al (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338:143–156PubMedCrossRef
69.
Zurück zum Zitat Videman T, Leppavuori J, Kaprio J et al (1998) Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine 23:2477–2485PubMedCrossRef Videman T, Leppavuori J, Kaprio J et al (1998) Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine 23:2477–2485PubMedCrossRef
70.
Zurück zum Zitat Whitfield GK, Remus LS, Jurutka PW et al (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177:145–159PubMedCrossRef Whitfield GK, Remus LS, Jurutka PW et al (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177:145–159PubMedCrossRef
71.
Zurück zum Zitat Ye S, Watts GF, Mandalia S et al (1995) Preliminary report: genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis. Br Heart J 73:209–215PubMedCrossRef Ye S, Watts GF, Mandalia S et al (1995) Preliminary report: genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis. Br Heart J 73:209–215PubMedCrossRef
72.
Zurück zum Zitat Ye S, Eriksson P, Hamsten A et al (1996) Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem 271:13055–13060PubMedCrossRef Ye S, Eriksson P, Hamsten A et al (1996) Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem 271:13055–13060PubMedCrossRef
Metadaten
Titel
Genetics of disc degeneration
verfasst von
Danny Chan
Youqiang Song
Pak Sham
Kenneth M. C. Cheung
Publikationsdatum
01.08.2006
Verlag
Springer-Verlag
Erschienen in
European Spine Journal / Ausgabe Sonderheft 3/2006
Print ISSN: 0940-6719
Elektronische ISSN: 1432-0932
DOI
https://doi.org/10.1007/s00586-006-0171-3

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25.04.2024 Hypertonie Nachrichten

Beginnen ältere Männer im Pflegeheim eine Antihypertensiva-Therapie, dann ist die Frakturrate in den folgenden 30 Tagen mehr als verdoppelt. Besonders häufig stürzen Demenzkranke und Männer, die erstmals Blutdrucksenker nehmen. Dafür spricht eine Analyse unter US-Veteranen.

Ärztliche Empathie hilft gegen Rückenschmerzen

23.04.2024 Leitsymptom Rückenschmerzen Nachrichten

Personen mit chronischen Rückenschmerzen, die von einfühlsamen Ärzten und Ärztinnen betreut werden, berichten über weniger Beschwerden und eine bessere Lebensqualität.

Update Orthopädie und Unfallchirurgie

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