title: COL9A2 allelotypes in intervertebral disc disease.
abstract: An allelic variation of the COL9A2 gene encoding the alpha(2)-chain of collagen IX has recently been identified as a genetic risk factor for intervertebral disc prolapse, resulting in a tryptophane (Trp) substitution at position 326 of the protein. To enable quick screening of a large population we established a single enzyme (BsmFI) restriction assay which was validated by screening disc tissue samples of 250 patients (age, 47.1 +/- 13.7 years). Positive results were confirmed by nucleotide sequencing. The Trp allele was found in three patients (1.2%) who suffered from their first prolapse and were significantly older (70.7 +/- 8.5 years) than the other 247 patients. Since the substitution affects a domain covalently linked to collagen II fibrils, we conclude that this allelotype may contribute to reduced collagen crosslinking, disc instability and eventually prolapse in the elderly.
authors: Institute of Neuropathology, Westfälische Wilhelms-Universität Münster, Münster, Germany.
authors: C
authors: C
authors: Wrocklage
authors: H
authors: H
authors: Wassmann
authors: W
authors: W
authors: Paulus
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D001706:Biopsy; D003094:Collagen / Q000235:genetics*; D024081:Collagen Type IX; D015280:DNA Restriction-Modification Enzymes; D005091:Exons; D005260:Female; D006801:Humans; D007403:Intervertebral Disc / Q000378:metabolism / Q000473:pathology; D007405:Intervertebral Disc Displacement / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015203:Reproducibility of Results; D015183:Restriction Mapping / Q000379:methods; D014364:Tryptophan
chemical_list: C120282:COL9A2 protein, human; D024081:Collagen Type IX; D015280:DNA Restriction-Modification Enzymes; D014364:Tryptophan; D003094:Collagen; C418602:endodeoxyribonuclease BsmFI