Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis

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RESEARCH ARTICLE

Open Access

Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis Huihong Wu1, Siting Wang1, Weiyou Chen1, Xinli Zhan1, Zengming Xiao1, Hua Jiang1* and Qingjun Wei2

Abstract Background: An increasing number of studies have investigated associations between collagen IX alpha 2 chain (COL9A2) and collagen IX alpha 3 chain (COL9A3) gene polymorphisms and the risk of lumbar disc degeneration (LDD). However, these studies have yielded contradictory results. The purpose of this meta-analysis is to investigate the association between the collagen IX gene polymorphisms (rs12077871, rs12722877, rs7533552 in COL9A2; rs61734651 in COL9A3) and LDD. Methods: All relevant articles were collected from PubMed, Web of Science, and China National Knowledge Infrastructure (CNKI). The last electronic search was performed on September 1, 2017. The allele/genotype frequencies were extracted from each study. The odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of associations under the five comparison genetic models. Statistical analysis was performed by Review Manager (RevMan) 5.31 software. Results: The meta-analysis of 10 case-control studies, including 2102 LDD cases and 2507 controls, indicated that COL9A2 gene (rs12077871, rs12722877, rs7533552) and COL9A3 gene (rs61734651) polymorphisms were not associated with LDD (rs12077871: T vs. C, OR = 1.85, 95% CI = 0.87–3.91, P = 0.11; rs12722877: G vs. C, OR = 0.83, 95% CI = 0.69–1.01, P = 0.06; rs7533552: G vs. A, OR = 1.11, 95% CI = 0.98–1.25, P = 0.09; rs61734651: T vs. C, OR = 1.57, 95% CI = 0.51–4.84, P = 0.43). The Egger text and the Begg funnel plot did not show any evidence of publication bias. Conclusion: rs12077871, rs12722877, and rs7533552 variants in COL9A2 and rs61734651 variant in COL9A3 were not significantly associated with a predisposition to LDD. Large-scale and well-designed studies are needed to confirm this conclusion. Keywords: COL9A2, COL9A3, Lumbar disc disease, Meta-analysis, Polymorphisms

Background Low back pain (LBP) is a prevalent disease in adults, especially those ranging from 40 to 80 years of age [1]. LBP can be classified into two types: acute and chronic. Chronic LBP is characterized by persistent pain and a high risk of disability, which contributes to soaring medical costs and loss of labor, possibly leading to a critical impact on the social economy [2]. The major cause of LBP is lumbar disc degeneration (LDD) [3]. Although the pathogenesis of LDD is multivariate, genetic factors * Correspondence: [email protected] 1 Division of Spine Surgery, The First Affiliated Hospital of Guangxi Medical University, No.6 Shuangyong Road, Nanning 530021, China Full list of author information is available at the end of the article

have been reported to play an important role in LDD, including collagen I alpha 1 (COL1A1) gene, collagen IX alpha 1 chain (COL9A1) gene, collagen IX alpha 2 chain (COL9A2) gene, collagen IX alpha 3 chain (COL9A3) gene, vitamin D receptor