title: Lumbar spinal stenosis is a highly genetic condition partly mediated by disc degeneration.
abstract: Objective. Lumbar spinal stenosis is one of the most commonly diagnosed spinal disorders in older adults. Although the pathophysiology of the clinical syndrome is not well understood, a narrow central canal or intervertebral foramen is an essential or defining feature. The aim of the present study was to estimate the magnitude of genetic versus environmental influences on central lumbar spinal stenosis and to investigate disc degeneration and stature or bone development as possible genetic pathways.Methods. A classic twin study with multivariate analyses considering lumbar level and other covariates was conducted. The study sample comprised 598 male twins (147 monozygotic and 152 dizygotic pairs), 35-70 years of age, from the population-based Finnish Twin Cohort. The primary phenotypes were central lumbar stenosis as assessed qualitatively on magnetic resonance imaging (MRI) and quantitatively measured dural sac cross-sectional area. Additional phenotypes (to examine possible genetic pathways) included disc bulging and standing height, as an indicator of overall skeletal size or development.Results. The heritability estimate (h²) for qualitatively assessed central lumbar spinal stenosis on MRI was 66.9% (95% confidence interval [95% CI] 56.8,74.5). The broad-sense heritability estimate for dural sac cross-sectional area was 81.2% (95% CI 74.5, 86.1),with a similar magnitude of genetic influences across lumbar levels (h²=72.4–75.6). The additive genetic correlation of quantitatively assessed stenosis and disc bulging was extremely high. There was no indication of shared genetic influences between stenosis and stature.Conclusion. Central lumbar spinal stenosis and associated dural sac dimensions are highly genetic, and disc degeneration (bulging) appears to be one pathway through which genes influence spinal stenosis.
authors.affiliation: University of Alberta, Faculty of Rehabilitation Medicine, 2-50 Corbett Hall, Edmonton, Alberta T6G 2G4, Canada.  mc.battie@ualberta.ca.
authors.forename: Michele C
authors.initials: MC
authors.lastname: Battié
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ortega-Alonso
authors.forename: Riikka
authors.initials: R
authors.lastname: Niemelainen
authors.forename: Kevin
authors.initials: K
authors.lastname: Gill
authors.forename: Esko
authors.initials: E
authors.lastname: Levalahti
authors.forename: Tapio
authors.initials: T
authors.lastname: Videman
authors.forename: Jaakko
authors.initials: J
authors.lastname: Kaprio
mesh_terms: D000328:Adult; D000368:Aged; D004200:Diseases in Twins / Q000235:genetics*; D006801:Humans; D055959:Intervertebral Disc Degeneration / Q000150:complications / Q000235:genetics*; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D010641:Phenotype; D013130:Spinal Stenosis / Q000235:genetics*; D014429:Twins, Dizygotic; D014430:Twins, Monozygotic