PMID- 14644861
OWN - NLM
STAT- MEDLINE
DCOM- 20040126
LR  - 20190503
IS  - 0003-4967 (Print)
IS  - 1468-2060 (Electronic)
IS  - 0003-4967 (Linking)
VI  - 62
IP  - 12
DP  - 2003 Dec
TI  - Sequence variations in the collagen IX and XI genes are associated with 
      degenerative lumbar spinal stenosis.
PG  - 1208-14
AB  - BACKGROUND: Degenerative lumbar spinal stenosis (LSS) is usually caused by disc 
      herniation or degeneration. Several genetic factors have been implicated in disc 
      disease. Tryptophan alleles in COL9A2 and COL9A3 have been shown to be associated 
      with lumbar disc disease in the Finnish population, and polymorphisms in the 
      vitamin D receptor gene (VDR) (FokI and TaqI), the matrix metalloproteinase-3 
      gene (MMP-3) and an aggrecan gene (AGC1) VNTR have been reported to be associated 
      with disc degeneration. In addition, an IVS6-4 a>t polymorphism in COL11A2 has 
      been found in connection with stenosis caused by ossification of the posterior 
      longitudinal ligament in the Japanese population. OBJECTIVE: To study the role of 
      genetic factors in LSS. METHODS: 29 Finnish probands were analysed for mutations 
      in the genes coding for intervertebral disc matrix proteins, COL1A1, COL1A2, 
      COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, and AGC1. VDR and MMP-3 
      polymorphisms were also analysed. Sequence variations were tested in 56 Finnish 
      controls. RESULTS: Several disease associated alleles were identified. A splice 
      site mutation in COL9A2 leading to a premature translation termination codon and 
      the generation of a truncated protein was identified in one proband, another had 
      the Trp2 allele, and four others the Trp3 allele. The frequency of the COL11A2 
      IVS6(-4) t allele was 93.1% in the probands and 72.3% in controls (p = 0.0016). 
      The differences in genotype frequencies for this site were less significant (p = 
      0.0043). CONCLUSIONS: Genetic factors have an important role in the pathogenesis 
      of LSS.
FAU - Noponen-Hietala, N
AU  - Noponen-Hietala N
AD  - Collagen Research Unit, Biocentre and Department of Medical Biochemistry and 
      Molecular Biology, University of Oulu, Oulu, Finland.
FAU - Kyllonen, E
AU  - Kyllonen E
FAU - Mannikko, M
AU  - Mannikko M
FAU - Ilkko, E
AU  - Ilkko E
FAU - Karppinen, J
AU  - Karppinen J
FAU - Ott, J
AU  - Ott J
FAU - Ala-Kokko, L
AU  - Ala-Kokko L
LA  - eng
GR  - AR45982/AR/NIAMS NIH HHS/United States
GR  - HG00008/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Ann Rheum Dis
JT  - Annals of the rheumatic diseases
JID - 0372355
RN  - 0 (ACAN protein, human)
RN  - 0 (Aggrecans)
RN  - 0 (Collagen Type IX)
RN  - 0 (Collagen Type XI)
RN  - 0 (Proteoglycans)
RN  - 0 (Receptors, Calcitriol)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aggrecans
MH  - Blotting, Southern
MH  - Collagen Type IX/*genetics
MH  - Collagen Type XI/*genetics
MH  - Female
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Polymorphism, Genetic/*genetics
MH  - Proteoglycans/genetics
MH  - Receptors, Calcitriol/genetics
MH  - Sequence Analysis, RNA
MH  - Spinal Stenosis/*genetics
PMC - PMC1754404
EDAT- 2003/12/03 05:00
MHDA- 2004/01/27 05:00
PMCR- 2006/12/01
CRDT- 2003/12/03 05:00
PHST- 2003/12/03 05:00 [pubmed]
PHST- 2004/01/27 05:00 [medline]
PHST- 2003/12/03 05:00 [entrez]
PHST- 2006/12/01 00:00 [pmc-release]
AID - 10.1136/ard.2003.008334 [doi]
PST - ppublish
SO  - Ann Rheum Dis. 2003 Dec;62(12):1208-14. doi: 10.1136/ard.2003.008334.