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Journal of Bone and Joint Surgery - British Volume, Vol 86-B, Issue 7, 1021-1026.
doi: 10.1302/0301-620X.86B7.14994  
Copyright © 2004 by British Editorial Society of Bone and Joint Surgery
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The association of lumbar spondylolisthesis with collagen IX tryptophan alleles

Y. Matsui, MD, PhD, Senior Fellow1; S. K. Mirza, MD, Associate Professor2; J.-J. Wu, PhD, Research Associate Professor2; B. Carter, BS, Research Scientist2; C. Bellabarba, MD, Assistant Professor3; C. I. Shaffrey, MD, Associate Professor4; J. R. Chapman, MD, Professor3; and D. R. Eyre, PhD2

1 Department of Orthopaedic Surgery, The University of Tokushima School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan.
2 Orthopaedic Research Laboratories, Department of Orthopaedics and Sports Medicine, University of Washington, P. O. Box 356500, Seattle, Washington 98195-6500, USA.
3 Department of Orthopaedics and Sports Medicine, University of Washington, P. O. Box 359798, Seattle, Washington 98195-9798 USA.
4 Department of Neurological Surgery, University of Washington, P. O. Box 356470, Seattle, Washington 98195-6470, USA.

Correspondence should be sent to Dr D. R. Eyre.

Two collagen type IX gene polymorphisms that introduce a tryptophan residue into the protein’s triple-helical domain have been linked to an increased risk of lumbar disc disease. To determine whether a particular subset of symptomatic lumbar disease is specifically associated with these polymorphisms, we performed a prospective case-control study of 107 patients who underwent surgery of the lumbar spine. Patients were assigned to one of five clinical categories (fracture, disc degeneration, disc herniation, spinal stenosis without spondylolisthesis and spinal stenosis with spondylolisthesis) based on history, imaging results, and findings during surgery. Of the 11 tryptophan-positive patients, eight had spinal stenosis with spondylolisthesis and three had disc herniation. The presence of the tryptophan allele was significantly associated with African-American or Asian designation for race (odds ratio 4.61, 95% CI 0.63 to 25.35) and with the diagnosis of spinal stenosis with spondylolisthesis (odds ratio 6.81, 95% CI 1.47 to 41.95).

Our findings indicate that tryptophan polymorphisms predispose carriers to the development of symptomatic spinal stenosis associated with spondylolisthesis which requires surgery.






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Hip, Knee, Trauma, Upper limb, Foot & Ankle, Paediatrics, Oncology, Spine, Arthroplasty, General