Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population.
Genetic factors seem to play a role in symptomatic lumbar disc disease (LDD). It has been shown previously that a tryptophan mutation of the COL9A2 gene is a major risk factor for LDD in a Finish population. The impact of collagen gene variations on the relapse rate after lumbar discectomy, however, has not been studied so far. Here, we conducted a cross-sectional genotyping study of patients who underwent lumbar discectomy to determine the influence of a COL9A2 mutation on the recurrence rates. Biopsy samples from 288 patients suffering from LDD with and without relapse were analyzed by PCR restriction fragment analysis and direct sequencing. The mutated Trp2 allele was not detected in the patients' samples of the present study. However, nine patients with recurrent LDD, but only two without recurrence were homozygous for the Arg allele. Homozygosity for the Arg allele of Col9A2 seems to be more frequent in the patient group with early recurrence although the differences in the allele frequencies were statistically not significant. In contrast, the Trp2 mutation seems not to be a major susceptibility factor for LDD in a German population.
Knoeringer
Markus
M
Klinikum rechts der Isar, Neurosurgery, Technical University, Munich, Germany.
Reinke
Andreas
A
Institute of Pathology, Division of Neuropathology, Technical University, Ismaninger Strasse 22, 81675, Munich, Germany.
Trappe
Anna-Elisabeth
AE
Klinikum rechts der Isar, Neurosurgery, Technical University, Munich, Germany.
Schlegel
Juergen
J
Institute of Pathology, Division of Neuropathology, Technical University, Ismaninger Strasse 22, 81675, Munich, Germany. juergen.schlegel@lrz.tum.de.|GSF Research Center, Institute of Pathology, Division of Neuropathology, Neuherberg, Germany. juergen.schlegel@lrz.tum.de.
D000328:Adult; D000368:Aged; D024081:Collagen Type IX / Q000235:genetics*; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D017586:Diskectomy / Q000706:statistics & numerical data; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D005858:Germany; D006720:Homozygote; D006801:Humans; D007405:Intervertebral Disc Displacement / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D012008:Recurrence
C120282:COL9A2 protein, human; D024081:Collagen Type IX; D005819:Genetic Markers; D008565:Membrane Proteins; C113139:Trp2 protein, vertebrate