Genetic association studies in lumbar disc degeneration: a systematic review.

<h4>Objective</h4>Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance...

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Autores principales:	Pasi J Eskola, Susanna Lemmelä, Per Kjaer, Svetlana Solovieva, Minna Männikkö, Niels Tommerup, Allan Lind-Thomsen, Kirsti Husgafvel-Pursiainen, Kenneth M C Cheung, Danny Chan, Dino Samartzis, Jaro Karppinen
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/c21b1912a95e4fce8386d3796d5dd90d
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spelling	oai:doaj.org-article:c21b1912a95e4fce8386d3796d5dd90d2021-11-18T08:07:49ZGenetic association studies in lumbar disc degeneration: a systematic review.1932-620310.1371/journal.pone.0049995https://doaj.org/article/c21b1912a95e4fce8386d3796d5dd90d2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23185509/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Objective</h4>Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans.<h4>Methods</h4>A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines.<h4>Results</h4>Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat), COL11A1 (rs1676486), GDF5 (rs143383), SKT (rs16924573), THBS2 (rs9406328) and MMP9 (rs17576).<h4>Conclusions</h4>Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.Pasi J EskolaSusanna LemmeläPer KjaerSvetlana SolovievaMinna MännikköNiels TommerupAllan Lind-ThomsenKirsti Husgafvel-PursiainenKenneth M C CheungDanny ChanDino SamartzisJaro KarppinenPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 11, p e49995 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Pasi J Eskola Susanna Lemmelä Per Kjaer Svetlana Solovieva Minna Männikkö Niels Tommerup Allan Lind-Thomsen Kirsti Husgafvel-Pursiainen Kenneth M C Cheung Danny Chan Dino Samartzis Jaro Karppinen Genetic association studies in lumbar disc degeneration: a systematic review.
description	<h4>Objective</h4>Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans.<h4>Methods</h4>A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines.<h4>Results</h4>Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat), COL11A1 (rs1676486), GDF5 (rs143383), SKT (rs16924573), THBS2 (rs9406328) and MMP9 (rs17576).<h4>Conclusions</h4>Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.
format	article
author	Pasi J Eskola Susanna Lemmelä Per Kjaer Svetlana Solovieva Minna Männikkö Niels Tommerup Allan Lind-Thomsen Kirsti Husgafvel-Pursiainen Kenneth M C Cheung Danny Chan Dino Samartzis Jaro Karppinen
author_facet	Pasi J Eskola Susanna Lemmelä Per Kjaer Svetlana Solovieva Minna Männikkö Niels Tommerup Allan Lind-Thomsen Kirsti Husgafvel-Pursiainen Kenneth M C Cheung Danny Chan Dino Samartzis Jaro Karppinen
author_sort	Pasi J Eskola
title	Genetic association studies in lumbar disc degeneration: a systematic review.
title_short	Genetic association studies in lumbar disc degeneration: a systematic review.
title_full	Genetic association studies in lumbar disc degeneration: a systematic review.
title_fullStr	Genetic association studies in lumbar disc degeneration: a systematic review.
title_full_unstemmed	Genetic association studies in lumbar disc degeneration: a systematic review.
title_sort	genetic association studies in lumbar disc degeneration: a systematic review.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/c21b1912a95e4fce8386d3796d5dd90d
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Genetic association studies in lumbar disc degeneration: a systematic review.

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