PMID- 10411504
OWN - NLM
STAT- MEDLINE
DCOM- 19990804
LR  - 20190619
IS  - 0036-8075 (Print)
IS  - 0036-8075 (Linking)
VI  - 285
IP  - 5426
DP  - 1999 Jul 16
TI  - An allele of COL9A2 associated with intervertebral disc disease.
PG  - 409-12
AB  - Intervertebral disc disease is one of the most common musculoskeletal disorders. 
      A number of environmental and anthropometric risk factors may contribute to it,
      and recent reports have suggested the importance of genetic factors as well. The 
      COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is
      expressed in the intervertebral disc, was screened for sequence variations in
      individuals with intervertebral disc disease. The analysis identified a putative 
      disease-causing sequence variation that converted a codon for glutamine to one
      for tryptophan in six out of the 157 individuals but in none of 174 controls. The
      tryptophan allele cosegregated with the disease phenotype in the four families
      studied, giving a lod score (logarithm of odds ratio) for linkage of 4.5, and
      subsequent linkage disequilibrium analysis conditional on linkage gave an
      additional lod score of 7.1.
FAU - Annunen, S
AU  - Annunen S
AD  - Collagen Research Unit, Biocenter and Department of Medical Biochemistry,
      University of Oulu, 90220 Oulu, Finland.
FAU - Paassilta, P
AU  - Paassilta P
FAU - Lohiniva, J
AU  - Lohiniva J
FAU - Perala, M
AU  - Perala M
FAU - Pihlajamaa, T
AU  - Pihlajamaa T
FAU - Karppinen, J
AU  - Karppinen J
FAU - Tervonen, O
AU  - Tervonen O
FAU - Kroger, H
AU  - Kroger H
FAU - Lahde, S
AU  - Lahde S
FAU - Vanharanta, H
AU  - Vanharanta H
FAU - Ryhanen, L
AU  - Ryhanen L
FAU - Goring, H H
AU  - Goring HH
FAU - Ott, J
AU  - Ott J
FAU - Prockop, D J
AU  - Prockop DJ
FAU - Ala-Kokko, L
AU  - Ala-Kokko L
LA  - eng
GR  - AR39740/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  - United States
TA  - Science
JT  - Science (New York, N.Y.)
JID - 0404511
RN  - 0 (COL9A2 protein, human)
RN  - 0 (Codon)
RN  - 0 (Collagen Type IX)
RN  - 8DUH1N11BX (Tryptophan)
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Case-Control Studies
MH  - Codon
MH  - Collagen/chemistry/*genetics
MH  - *Collagen Type IX
MH  - Female
MH  - Genetic Linkage
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Intervertebral Disc Displacement/*genetics
MH  - Linkage Disequilibrium
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Penetrance
MH  - Polymorphism, Genetic
MH  - Sciatica/*genetics
MH  - Tryptophan/genetics
EDAT- 1999/07/20 00:00
MHDA- 1999/07/20 00:01
CRDT- 1999/07/20 00:00
PHST- 1999/07/20 00:00 [pubmed]
PHST- 1999/07/20 00:01 [medline]
PHST- 1999/07/20 00:00 [entrez]
AID - 7664 [pii]
AID - 10.1126/science.285.5426.409 [doi]
PST - ppublish
SO  - Science. 1999 Jul 16;285(5426):409-12. doi: 10.1126/science.285.5426.409.