Radiologic Phenotypes in Lumbar MR Imaging for a Gene Defect in theCOL9A3Gene of Type IX Collagen
| Autor: | Pentti Nieminen, Jaana Lohiniva, Heikki Vanharanta, Jaro Karppinen, Antti Malmivaara, Eija Pääkkö, Leena Ala-Kokko, Petteri Paassilta, Mauno Kurunlahti, Harald H H Göring, Osmo Tervonen |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Sciatica Pathology medicine.medical_specialty medicine.diagnostic_test business.industry Magnetic resonance imaging Anatomy Middle Aged Magnetic Resonance Imaging Collagen Type IX Sagittal plane Intervertebral disk Phenotype Lumbar medicine.anatomical_structure Radiologic sign Genotype Humans Medicine Female Radiology Nuclear Medicine and imaging medicine.symptom Allele business |
| Zdroj: | Radiology. 227:143-148 |
| ISSN: | 1527-1315 0033-8419 |
| DOI: | 10.1148/radiol.2271011821 |
| Popis: | To evaluate whether the COL9A3 tryptophan allele (Trp3 allele) is associated with a specific radiologic phenotype among patients with sciatica.One hundred fifty-three patients with sciatica were evaluated for the presence of Trp3 allele, Scheuermann disease, intervertebral disk degeneration, Schmorl nodules, dorsal anular tears, hyperintense lesions, and endplate degeneration on sagittal T2-weighted lumbar magnetic resonance images. The Trp3 genotype was determined by means of sequencing the COL9A3 gene. Radiologic phenotypes were evaluated while blinded to the genotype. Scheuermann disease was diagnosed if either endplate irregularities or Schmorl nodules and two of the other three criteria (disk space narrowing, disk dehydration, and wedging of anterior vertebral body margins) were present at three or more adjacent disk levels from T10-11 to L3-4. Disk degeneration was evaluated separately for each disk (T11-12 to L5-S1) and for all disks combined. Frequencies of radiologic phenotypes between individuals with or without Trp3 allele were compared.Thirty-four patients had at least one Trp3 allele. When compared with the matched control subjects, they had an increased likelihood of Scheuermann disease (P =.035) and an increased number of degenerated disks from T11 to S1 (P =.021). Comparisons at individual disks showed a statistically significant increase in disk degeneration at T11-12 (analysis of all grades of degeneration [graded], P =.018; analysis of any degeneration vs none [dichotomous], P =.039) and L4-5 (graded, P =.011; dichotomous, P =.016). Prevalences of anular tears, endplate degeneration, Schmorl nodules, and hyperintense lesions were comparable.The results of this study indicate that the presence of Trp3 allele is associated with Scheuermann disease and intervertebral disk degeneration. No associations were found for other radiologic phenotypes. |
| Databáze: | OpenAIRE |
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