Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, Guerra, Sandra G., Denton, Christopher, Fonseca, Carmen, Assassi, Shervin, Zhou, Xiaodong, Mayes, Maureen D., Simeon, Carmen Pilar, Ortego-Centeno, Norberto, Castellvi, Ivan ORCID: 0000-0002-5410-5807, Carreira, Patricia, Gorlova, Olga, Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Santaniello, Alessandro, Lunardi, Claudio, Hesselstrand, Roger, Nordin, Annika ORCID: 0000-0003-1976-4679, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Joerg H. W., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Koeleman, Bobby P., Herrick, Ariane ORCID: 0000-0003-4941-7926, Worthington, Jane, Radstake, Timothy R. D. J. and Martin, Javier ORCID: 0000-0002-2202-0622 (2014). Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus. Arthritis Rheumatol., 66 (12). S. 3521 - 3524. HOBOKEN: WILEY-BLACKWELL. ISSN 2326-5205

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Abstract

ObjectiveLumbar 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. MethodsA 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. ResultsThe heritability estimate (h(2)) 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 (h(2) = 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. ConclusionCentral 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Lopez-Isac, ElenaUNSPECIFIEDorcid.org/0000-0001-8806-5148UNSPECIFIED
Bossini-Castillo, LaraUNSPECIFIEDorcid.org/0000-0002-5471-5824UNSPECIFIED
Guerra, Sandra G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Denton, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fonseca, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Assassi, ShervinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhou, XiaodongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mayes, Maureen D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simeon, Carmen PilarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ortego-Centeno, NorbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castellvi, IvanUNSPECIFIEDorcid.org/0000-0002-5410-5807UNSPECIFIED
Carreira, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gorlova, OlgaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beretta, LorenzoUNSPECIFIEDorcid.org/0000-0002-6529-6258UNSPECIFIED
Santaniello, AlessandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hesselstrand, RogerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nordin, AnnikaUNSPECIFIEDorcid.org/0000-0003-1976-4679UNSPECIFIED
Riemekasten, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, TorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Distler, Joerg H. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voskuyl, Alexandre E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Vries-Bouwstra, JeskaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koeleman, Bobby P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrick, ArianeUNSPECIFIEDorcid.org/0000-0003-4941-7926UNSPECIFIED
Worthington, JaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, Timothy R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, JavierUNSPECIFIEDorcid.org/0000-0002-2202-0622UNSPECIFIED
URN: urn:nbn:de:hbz:38-422378
DOI: 10.1002/art.38870
Journal or Publication Title: Arthritis Rheumatol.
Volume: 66
Number: 12
Page Range: S. 3521 - 3524
Date: 2014
Publisher: WILEY-BLACKWELL
Place of Publication: HOBOKEN
ISSN: 2326-5205
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DISC DEGENERATION; TWINMultiple languages
RheumatologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/42237

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