Genetics of Lumbar Disk Degeneration: Technology, Study Designs, and Risk Factors

Orthopedic Clinics of North America

Volumn 42, Issue 4, 2011, Pages 479-486

  Yu Ping Kao, Patrick ^a   Chan, Danny ^a   Samartzis, Dino ^a   Sham, Pak Chung ^a   Song, You Qiang ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Association study; Familial aggregation; Genetics; Lumbar disk degeneration; Twin studies

Indexed keywords

DISEASE ASSOCIATION; FAMILIAL DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; HUMAN GENOME PROJECT; INTERMETHOD COMPARISON; INTERVERTEBRAL DISK DEGENERATION; LOW BACK PAIN; LUMBAR DISK; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; STUDY DESIGN; TWIN CONCORDANCE;

EID: 80053184385     PISSN: 00305898     EISSN: 15581373     Source Type: Journal    
DOI: 10.1016/j.ocl.2011.07.011     Document Type: Review

References (78)

1. Andersson G.B. Epidemiological features of chronic low-back pain. Lancet 1999, 354:581-585.
2. Manchikanti L., Singh V., Datta S., et al. Comprehensive review of epidemiology, scope, and impact of spinal pain. Pain Physician 2009, 12:E35-E70.
3. Deyo R.A., Tsui-Wu Y.J. Descriptive epidemiology of low-back pain and its related medical care in the United States. Spine 1987, 12:264-268.
4. Hart L.G., Deyo R.A., Cherkin D.C. Physician office visits for low back pain. Frequency, clinical evaluation, and treatment patterns from a U.S. national survey. Spine 1995, 20:11-19.
5. Samartzis D., Karppinen J., Mok F., et al. A population-based study of juvenile disc degeneration and its association with overweight and obesity, low back pain, and diminished functional status. J Bone Joint Surg Am 2011, 93:662-670.
6. Shiri R., Karppinen J., Leino-Arjas P., et al. The association between obesity and low back pain: a meta-analysis. Am J Epidemiol 2010, 171:135-154.
7. Shiri R., Solovieva S., Husgafvel-Pursiainen K., et al. The association between obesity and the prevalence of low back pain in young adults: the Cardiovascular Risk in Young Finns Study. Am J Epidemiol 2008, 167:1110-1119.
8. van Tulder M., Koes B., Bombardier C. Low back pain. Best Pract Res Clin Rheumatol 2002, 16:761-775.
9. Videman T., Nurminen M., Troup J.D. 1990 Volvo Award in Clinical Sciences. Lumbar spinal pathology in cadaveric material in relation to history of back pain, occupation, and physical loading. Spine 1990, 15:728-740.
10. MacGregor A.J., Andrew T., Sambrook P.N., et al. Structural, psychological, and genetic influences on low back and neck pain: a study of adult female twins. Arthritis Rheum 2004, 51:160-167.
11. Battie M.C., Videman T., Levalahti E., et al. Heritability of low back pain and the role of disc degeneration. Pain 2007, 131:272-280.
12. Luoma K., Riihimaki H., Luukkonen R., et al. Low back pain in relation to lumbar disc degeneration. Spine (Phila Pa 1976) 2000, 25:487-492.
13. Chou R., Qaseem A., Owens D.K., et al. Diagnostic imaging for low back pain: advice for high-value health care from the American College of Physicians. Ann Intern Med 2011, 154:181-189.
14. de Schepper E.I., Damen J., van Meurs J.B., et al. The association between lumbar disc degeneration and low back pain: the influence of age, gender, and individual radiographic features. Spine (Phila Pa 1976) 2010, 35:531-536.
15. Kjaer P., Leboeuf-Yde C., Korsholm L., et al. Magnetic resonance imaging and low back pain in adults: a diagnostic imaging study of 40-year-old men and women. Spine (Phila Pa 1976) 2005, 30:1173-1180.
16. Kjaer P., Leboeuf-Yde C., Sorensen J.S., et al. An epidemiologic study of MRI and low back pain in 13-year-old children. Spine (Phila Pa 1976) 2005, 30:798-806.
17. Samartzis D, Karppinen J, Chan D, et al. The association of disc degeneration based on magnetic resonance imaging and the presence of low back pain. Presented at the World Forum for Spine Research: Intervertebral Disc. Montreal (Canada), July 5-8, 2010.
18. Savage R.A., Whitehouse G.H., Roberts N. The relationship between the magnetic resonance imaging appearance of the lumbar spine and low back pain, age and occupation in males. Eur Spine J 1997, 6:106-114.
19. Takatalo J., Karppinen J., Niinimäki J., et al. Does lumbar disc degeneration on MRI associate with low back symptom severity in young Finnish adults?. Spine (Phila Pa 1976) 2011, [Epub ahead of print]. DOI:10.1097/BRS.0b013e3182077122.
20. Visuri T., Ulaska J., Eskelin M., et al. Narrowing of lumbar spinal canal predicts chronic low back pain more accurately than intervertebral disc degeneration: a magnetic resonance imaging study in young Finnish male conscripts. Mil Med 2005, 170:926-930.
21. Freemont A.J., Peacock T.E., Goupille P., et al. Nerve ingrowth into diseased intervertebral disc in chronic back pain. Lancet 1997, 350:178-181.
22. Varlotta G.P., Brown M.D., Kelsey J.L., et al. Familial predisposition for herniation of a lumbar disc in patients who are less than twenty-one years old. J Bone Joint Surg Am 1991, 73:124-128.
23. Frino J., McCarthy R.E., Sparks C.Y., et al. Trends in adolescent lumbar disc herniation. J Pediatr Orthop 2006, 26:579-581.
24. Matsui H., Terahata N., Tsuji H., et al. Familial predisposition and clustering for juvenile lumbar disc herniation. Spine (Phila Pa 1976) 1992, 17:1323-1328.
25. Postacchini F., Lami R., Pugliese O. Familial predisposition to discogenic low-back pain. An epidemiologic and immunogenetic study. Spine (Phila Pa 1976) 1988, 13:1403-1406.
26. Simmons E.D., Guntupalli M., Kowalski J.M., et al. Familial predisposition for degenerative disc disease. A case-control study. Spine (Phila Pa 1976) 1996, 21:1527-1529.
27. Saftic R., Grgic M., Ebling B., et al. Case-control study of risk factors for lumbar intervertebral disc herniation in Croatian island populations. Croat Med J 2006, 47:593-600.
28. Richardson J.K., Chung T., Schultz J.S., et al. A familial predisposition toward lumbar disc injury. Spine (Phila Pa 1976) 1997, 22:1487-1492. [discussion: 93].
29. Matsui H., Kanamori M., Ishihara H., et al. Familial predisposition for lumbar degenerative disc disease. A case-control study. Spine (Phila Pa 1976) 1998, 23:1029-1034.
30. Battie M.C., Videman T., Gibbons L.E., et al. 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 (Phila Pa 1976) 1995, 20:2601-2612.
31. Sambrook P.N., MacGregor A.J., Spector T.D. Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. Arthritis Rheum 1999, 42:366-372.
32. Livshits G., Cohen Z., Higla O., et al. Familial history, age and smoking are important risk factors for disc degeneration disease in Arabic pedigrees. Eur J Epidemiol 2001, 17:643-651.
33. Battie M.C., Haynor D.R., Fisher L.D., et al. Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. J Bone Joint Surg Am 1995, 77:1662-1670.
34. Molinari R.W., Bridwell K.H., Lenke L.G., et al. Complications in the surgical treatment of pediatric high-grade, isthmic dysplastic spondylolisthesis. A comparison of three surgical approaches. Spine (Phila Pa 1976) 1999, 24:1701-1711.
35. Pfirrmann C.W., Metzdorf A., Zanetti M., et al. Magnetic resonance classification of lumbar intervertebral disc degeneration. Spine 2001, 26:1873-1878.
36. Schneiderman G., Flannigan B., Kingston S., et al. Magnetic resonance imaging in the diagnosis of disc degeneration: correlation with discography. Spine 1987, 12:276-281.
37. Tilson E.R., Strickland G.D., Gibson S.D. An overview of radiography, computed tomography, and magnetic resonance imaging in the diagnosis of lumbar spine pathology. Orthop Nurs 2006, 25:415-420. [quiz: 21-2].
38. Carragee E.J., Don A.S., Hurwitz E.L., et al. 2009 ISSLS Prize Winner: Does discography cause accelerated progression of degeneration changes in the lumbar disc: a ten-year matched cohort study. Spine (Phila Pa 1976) 2009, 34:2338-2345.
39. Fourney DR, Andersson GB, Arnold PM, et al. Chronic low back pain: a heterogeneous condition with challenges for an evidence-based approach. Spine, in press.
40. Lander E.S., Linton L.M., Birren B., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
41. Frazer K.A., Ballinger D.G., Cox D.R., et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449:851-861.
42. International HapMap Consortium The International HapMap Project. Nature 2003, 426:789-796.
43. The 1000 Genomes Project Consortium, Durbin R.M., Abecasis G.R., et al. A map of human genome variation from population-scale sequencing. Nature 2010, 467:1061-1073.
44. The 1000 Genomes Project Consortium. About the 1000 Genomes Project. 2010. Available at: Accessed August 4, 2011. http://www.1000genomes.org/about.
45. Ragoussis J. Genotyping technologies for genetic research. Annu Rev Genomics Hum Genet 2009, 10:117-133.
46. Magi R., Pfeufer A., Nelis M., et al. Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation. BMC Genomics 2007, 8:159.
47. Fakhrai-Rad H., Pourmand N., Ronaghi M. Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms. Hum Mutat 2002, 19:479-485.
48. Cardon L.R., Bell J.I. Association study designs for complex diseases. Nat Rev Genet 2001, 2:91-99.
49. Zhang Y., Sun Z., Liu J., et al. Advances in susceptibility genetics of intervertebral degenerative disc disease. Int J Biol Sci 2008, 4:283-290.
50. Kalichman L., Hunter D.J. The genetics of intervertebral disc degeneration. Associated genes. Joint Bone Spine 2008, 75:388-396.
51. Chan D., Song Y., Sham P., et al. Genetics of disc degeneration. Eur Spine J 2006, 15(Suppl 3):S317-S325.
52. Ala-Kokko L. Genetic risk factors for lumbar disc disease. Ann Med 2002, 34:42-47.
53. Jim J.J., Noponen-Hietala N., Cheung K.M., et al. The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. Spine (Phila Pa 1976) 2005, 30:2735-2742.
54. Paassilta P., Lohiniva J., Goring H.H., et al. Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 2001, 285:1843-1849.
55. Annunen S., Paassilta P., Lohiniva J., et al. An allele of COL9A2 associated with intervertebral disc disease. Science 1999, 285:409-412.
56. Roughley P., Martens D., Rantakokko J., et al. The involvement of aggrecan polymorphism in degeneration of human intervertebral disc and articular cartilage. Eur Cell Mater 2006, 11:1-7. [discussion].
57. Kawaguchi Y., Osada R., Kanamori M., et al. Association between an aggrecan gene polymorphism and lumbar disc degeneration. Spine (Phila Pa 1976) 1999, 24:2456-2460.
58. Dong D.M., Yao M., Liu B., et al. Association between the -1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults. Eur Spine J 2007, 16:1958-1961.
59. Takahashi M., Haro H., Wakabayashi Y., et al. 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 2001, 83:491-495.
60. Goupille P., Jayson M.I., Valat J.P., et al. Matrix metalloproteinases: the clue to intervertebral disc degeneration?. Spine (Phila Pa 1976) 1998, 23:1612-1626.
61. Le Maitre C.L., Freemont A.J., Hoyland J.A. The role of interleukin-1 in the pathogenesis of human intervertebral disc degeneration. Arthritis Res Ther 2005, 7:R732-R745.
62. Solovieva S., Leino-Arjas P., Saarela J., et al. Possible association of interleukin 1 gene locus polymorphisms with low back pain. Pain 2004, 109:8-19.
63. Solovieva S., Kouhia S., Leino-Arjas P., et al. Interleukin 1 polymorphisms and intervertebral disc degeneration. Epidemiology 2004, 15:626-633.
64. Song Y.Q., Cheung K.M., Ho D.W., et al. Association of the asporin D14 allele with lumbar-disc degeneration in Asians. Am J Hum Genet 2008, 82:744-747.
65. Torres B., Orozco G., Garcia-Lozano J.R., et al. Asporin repeat polymorphism in rheumatoid arthritis. Ann Rheum Dis 2007, 66:118-120.
66. Kizawa H., Kou I., Iida A., et al. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet 2005, 37:138-144.
67. Ikegawa S., Kawamura S., Takahashi A., et al. Replication of association of the D-repeat polymorphism in asporin with osteoarthritis. Arthritis Res Ther 2006, 8:403. [author reply].
68. Tilkeridis C., Bei T., Garantziotis S., et al. Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. J Med Genet 2005, 42:e44.
69. Kawaguchi Y., Kanamori M., Ishihara H., et al. The association of lumbar disc disease with vitamin-D receptor gene polymorphism. J Bone Joint Surg Am 2002, 84:2022-2028.
70. Videman T., Gibbons L.E., Battie M.C., et al. The relative roles of intragenic polymorphisms of the vitamin D receptor gene in lumbar spine degeneration and bone density. Spine (Phila Pa 1976) 2001, 26:E7-E12.
71. Videman T., Leppavuori J., Kaprio J., et al. Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine (Phila Pa 1976) 1998, 23:2477-2485.
72. Pluijm S.M., van Essen H.W., Bravenboer N., et al. Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women. Ann Rheum Dis 2004, 63:71-77.
73. Grant S.F., Reid D.M., Blake G., et al. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 1996, 14:203-205.
74. Uitterlinden A.G., Burger H., Huang Q., et al. 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 1998, 338:1016-1021.
75. Riggs B.L. Vitamin D-receptor genotypes and bone density. N Engl J Med 1997, 337:125-126.
76. Morrison N.A., Qi J.C., Tokita A., et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994, 367:284-287.
77. Seki S., Kawaguchi Y., Chiba K., et al. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat Genet 2005, 37:607-612.
78. Lorenzo P., Bayliss M.T., Heinegard D. A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. J Biol Chem 1998, 273:23463-23468.