title: Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica.
abstract: METHODS
  The phenotype of patients with sciatica who have the Trp2 allele is characterized cross-sectionally.
  
  
  OBJECTIVE
  To determine whether it is possible to differentiate patients with the Trp2 allele clinically or by magnetic resonance imaging.
  
  
  BACKGROUND
  Several studies have indicated a positive family history for intervertebral disc disease. Previously, a dominantly inherited defect was identified in the COL9A2 gene that changed a codon for glutamine to that for tryptophan in the alpha2 chain of collagen IX (Trp2 allele). This change may render intervertebral discs more fragile.
  
  
  METHODS
  Clinical findings, clinical symptoms, and magnetic resonance imaging (1.5-T) findings from 159 patients with sciatica were evaluated according to the presence of the Trp2 allele. Additionally, the magnetic resonance imaging scans of 22 family members from three families were evaluated. These scans were analyzed intervertebral disc and endplate degeneration, Schmorl's nodes, transverse tears (hyperintensity in the region of Sharpey's fibers), high-intensity zone lesions (bright spots in the dorsal anulus), and radial tears (hyperintense linear area from the nucleus to the outer part of the anulus on T2 sequences).
  
  
  RESULTS
  Six patients with sciatica and 11 family members had the Trp2 allele. No homozygotes were found. Clinical symptoms of patients with and those without the Trp2 allele were similar. Patients with sciatica who had the Trp2 allele were significantly more flexible (P < 0.05), according to the modified Schober measure. The disc and endplate degeneration in 6 patients with the Trp2 allele and their 18 controls (matched for age, occupation, gender) without the allele did not differ significantly, whereas family members with the Trp2 allele had a greater degree of disc and endplate degeneration at L5-S1. The overall prevalence of endplate degeneration was high in this study. The prevalences of dorsal transverse tears, high-intensity zone lesions, and Schmorl's nodes did not differ among patients with sciatica or family members according to the presence of the Trp2 allele. There was, however, a trend for increased prevalence of radial tears in nonherniated discs among the Trp2 allele-positive subjects (3 of 6 patients with sciatica and 3 of 11 family members), as compared with the Trp2-negatives subjects (none of 18 "matched" patients or 11 family members).
  
  
  CONCLUSIONS
  The patients with the Trp2 allele were more flexible, and more often tended to have a radial tear in a nonherniated disc than their control counterparts.
authors.affiliation: Department of Physical Medicine and Rehabilitation, University of Oulu, Finland. jaro.karppinen@ppshp.fi
authors.forename: Jaro
authors.initials: J
authors.lastname: Karppinen
authors.forename: Eija
authors.initials: E
authors.lastname: Pääkkö
authors.forename: Susanna
authors.initials: S
authors.lastname: Räinä
authors.forename: Osmo
authors.initials: O
authors.lastname: Tervonen
authors.forename: Mauno
authors.initials: M
authors.lastname: Kurunlahti
authors.forename: Pentti
authors.initials: P
authors.lastname: Nieminen
authors.forename: Leena
authors.initials: L
authors.lastname: Ala-Kokko
authors.forename: Antti
authors.initials: A
authors.lastname: Malmivaara
authors.forename: Heikki
authors.initials: H
authors.lastname: Vanharanta
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D003094:Collagen / Q000235:genetics*; D024081:Collagen Type IX; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005260:Female; D005387:Finland / Q000453:epidemiology; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006801:Humans; D007403:Intervertebral Disc / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D015995:Prevalence; D012585:Sciatica / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: C120282:COL9A2 protein, human; D024081:Collagen Type IX; D003094:Collagen