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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doaj-c21b1912a95e4fce8386d3796d5dd90d2021-03-04T00:01:03ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-01711e4999510.1371/journal.pone.0049995Genetic association studies in lumbar disc degeneration: a systematic review.Pasi J EskolaSusanna LemmeläPer KjaerSvetlana SolovievaMinna MännikköNiels TommerupAllan Lind-ThomsenKirsti Husgafvel-PursiainenKenneth M C CheungDanny ChanDino SamartzisJaro Karppinen<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.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23185509/pdf/?tool=EBI |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
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 |
spellingShingle |
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. PLoS ONE |
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) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2012-01-01 |
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. |
url |
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23185509/pdf/?tool=EBI |
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