Putative susceptibility locus on chromosome 21q for Lumbar disc disease (LDD) in the Finnish population

Journal of Bone and Mineral Research

Volumn 22, Issue 5, 2007, Pages 701-707

  Virtanen, Iita M ^a   Noponen, Noora ^a   Barral, Sandra ^b   Karppinen, Jaro ^a,c,d   Li, Hong ^a   Vuoristo, Mirka ^a   Niinimäki, Jaakko ^a   Ott, Jürg ^b   Ala Kokko, Leena ^a,e   Männikkö, Minna ^a  

^a UNIVERSITY OF OULU   (Finland)

^b ROCKEFELLER UNIVERSITY   (United States)

^c FINNISH INSTITUTE OF OCCUPATIONAL HEALTH   (Finland)

^d ORTON ORTHOPAEDIC HOSPITAL   (Finland)

^e Connective Tissue Gene Tests ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTS 1 GENE; ADAMTS 5 GENE; ADOLESCENT; ADULT; AGED; ANAMNESIS; ARTICLE; CASE CONTROL STUDY; CHROMOSOME 21Q; CHROMOSOME MAP; CONTROLLED STUDY; FEMALE; FINLAND; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; LIGAMENT CALCINOSIS; LUMBAR DISK; LUMBAR DISK DISEASE; MAJOR CLINICAL STUDY; MALE; POSTERIOR LONGITUDINAL LIGAMENT; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS; SPINE DISEASE; CHROMOSOME 21; CLINICAL TRIAL; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; INTERVERTEBRAL DISK; LUMBAR VERTEBRA; MIDDLE AGED; QUANTITATIVE TRAIT LOCUS;

ADAM PROTEIN; ADAMTS1 PROTEIN, HUMAN; ADAMTS5 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADAM PROTEINS; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERVERTEBRAL DISK; LINKAGE DISEQUILIBRIUM; LOD SCORE; LUMBAR VERTEBRAE; MALE; MIDDLE AGED; QUANTITATIVE TRAIT LOCI; SPINAL DISEASES;

EID: 34447506560     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.070123     Document Type: Article

References (28)

1. Frymoyer LW 1988 Back pain and sciatica. N Engl J Med 318:291-300.
2. Heliövaara M, Impivaara K, Sievers K, Maatela J, Knekt P, Mäkelä M, Aromaa A 1987 Lumbar disc syndrome in Finland. Ann Med 41:251-258.
3. Battié MC, Videman T, Gibbons LE, Fisher LD, Manninen H, Gill K 1995 Volvo award in clinical sciences. Determinants of lumbar disc degeneration. A study relating lifetime exposure and magnetic resonance imaging findings in identical twins. Spine 20:2601-2612.
4. Varlotta GP, Brown MD, Kelsey JL, Golden AL 1991 Familial predisposition for herniation of a lumbar disc in patients who are less than twenty-one years old. J Bone Joint Surg Am 73:124-128.
5. Matsui H, Terahata N, Tsuji H, Hirano N, Naruse Y 1992 Familial predisposition and clustering for juvenile lumbar disc herniation. Spine 17:1323-1328.
6. Ala-Kokko L 2002 Genetic risk factors for lumbar disc disease. Ann Med 34:42-47.
7. Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, Kröger H, Lähde S, Vanharanta H, Ryhänen L, Göring HHH, Ott J, Prockop DJ, Ala-Kokko L 1999 An allele of COL9A2 associated with intervertebral disc disease. Science 285:409-412.
8. Paassilta P, Lohiniva J, Göring HHH, Perälä M, Annunen S, Karppinen J, Hakala M, Palm T, Kröger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L 2001 Identification of a novel common genetic risk factor for lumbar disc diasease. JAMA 285:1843-1849.
9. Kawaguchi Y, Osada R, Kanamori M, Ishihara H, Ohmori K, Matsui H, Kimura T 1999 Association between an aggrecan gene polymorphism and lumbar disc degeneration. Spine 24:2456-2460.
10. Videman T, Gibbons LE, Battie MC, Maravilla K, Vanninen E, Leppävuori J, Kaprio J, Peltonen L 2001 The relative roles of intragenic polymorphisms of the vitamin D receptor gene in lumbar spine degeneration and bone density. Spine 26:E7-E12.
11. Takahashi M, Haro H, Wakabayashi Y, Kawauchi T, Komori H, 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 Br 83:491-495.
12. Solovieva S, Kouhia S, Leino-Arjas P, Ala-Kokko L, Luoma K, Raininko R, Saarela J, Riihimäki H 2004 Interleukin 1 polymorphisms and intervertebral disc degeneration. Epidemiology 15:626-633.
13. Noponen-Hietala N, Virtanen I, Karttunen R, Schwenke S, Jakkula E, Li H, Merikivi R, Ott J, Karppinen J, Ala-Kokko L 2005 Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica. Pain 114:186-194.
14. 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, Ikegawa S 2005 A Functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat Genet 37:607-612.
15. Maeda S, Ishidou Y, Koga H, Taketomi E, Ikari K, Komiya S, Takeda J, Sakou T, Inoue I 2001 Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 16:948-957.
16. Noponen-Hietala N, Kyllönen E, Männikkö M, Ilkko E, Karppinen J, Ala-Kokko L 2003 Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. Ann Rheum Dis 62:1208-1214.
17. Boden SD, Davis DO, Dina TS, Patronas NJ, Wiesel SW 1990 Abnormal magnetic-resonance scans of the lumbar spine in asymptomatic subjects. A prospective investigation. J Bone Joint Surg Am 72:403-408.
18. Karppinen J, Malmivaara A, Kurunlahti M, Kyllönen E, Pienimäki T, Nieminen P, Ohinmaa A, Tervonen O, Vanharanta H 2001 Periradicular infiltration for sciatica. A randomized controlled trial. Spine 26:1059-1067.
19. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L 1998 Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 95:1681-1685.
20. O'Connell JR, Weeks DE 1998 PedCheck: A program for identifying genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
21. Cottingham RW Jr, Idury RM, Schaff er AA 1993 Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263.
22. Ott J 1999 Analysis of Human Genetic Linkage. The Johns Hopkins University Press, Baltimore, MD, USA.
23. Sobel E, Lange K 1996 Descent graphs in pedigree analysis: Applications to haplotyping, location scores and marker-sharing statistics. Am J Hum Genet 58:1323-1337.
24. Gordon D, Haynes C, Johnnidis C, Patel SB, Bowcock AM, Ott J 2004 A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents. Eur J Hum Genet 12:752-761.
25. Martin ER, Monks SA, Warren LL, Kaplan NL 2000 A test for linkage and association in general pedigrees: The pedigree disequilibrium test. Am J Hum Genet 67:146-154.
26. Benjamini Y, Hochberg Y 1995 Controlling the false discovery rate: A practical and powerful approach to multiple testing. J Roy Stat Soc Ser B 57:289-300.
27. Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa KI, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I 2003 Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet 73:812-822.
28. Tang BL 2001 ADAMTS: A novel family of extracellular matrix proteases. Int J Biochem Cell Biol 33:33-44.