Aggrecan Variable Number of Tandem Repeat Polymorphism and Lumbar Disc Degeneration

Gu, Jiaao; Guan, Feifei; Guan, Guofa; Xu, Gongping; Wang, Xintao; Zhao, Wei; Ji, Yiqin; Yan, Jinglong

doi:10.1097/brs.0000000000000012

Cited by 17 publications

(19 citation statements)

References 32 publications

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“…The most frequent repeat numbers of CS1 VNTR are 27, 27, and 28 in Japanese women, Iranian population, and Turkish population, respectively (Kawaguchi et al, 1999;Mashayekhi et al, 2010;Eser et al, 2011;Kalb et al, 2012), although Iranian patients commonly have 24 or fewer repeats (Mashayekhi et al, 2010). A recent meta-analysis of aggrecan VNTR revealed an increased tendency in patients with shorter alleles toward LDD when compared to normal alleles and longer alleles, especially among individuals of Asian descent (Gu et al, 2013).…”

Section: Aggrecanmentioning

confidence: 98%

Genetic aspects of intervertebral disc degeneration

Hanaei

Abdollahzade

Khoshnevisan

et al. 2015

Reviews in the Neurosciences

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AbstractIntervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease through altering the normal homeostasis of discs. Gene polymorphisms in disc proteins (collagens I, II, III, IX, and XI), proteoglycans (aggrecan), cytokines (interleukins I, VI, and X), enzymes (matrix metalloproteinases II, III, and IX), and vitamin D receptor seem to play considerable roles in the pathology of this disease. There are also many other investigated genes that could somehow take part in the process. However, it seems that more studies are needed to clarify the exact role of genetics in IVDD.

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Section: Aggrecanmentioning

confidence: 98%

Genetic aspects of intervertebral disc degeneration

Hanaei

Abdollahzade

Khoshnevisan

et al. 2015

Reviews in the Neurosciences

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“…Furthermore, aggrecan binds to negatively charged glycosaminoglycans to increase the hydrostatic pressure of the NP (5, 7). One of the most investigated polymorphisms of aggrecan is the variable nucleotide tandem repeat (VNTR) in the chondroitin sulfate-1 encoding domain of the aggrecan gene ( ACAN ) (45). The chondroitin sulfate encoding allele has VNTRs ranging from 13 to 33 nucleotides, with the most common number being 26, 27, or 28 repeats.…”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

Genetic Alterations in Intervertebral Disc Disease

et al. 2016

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BackgroundIntervertebral disc degeneration (IVDD) is considered a multifactorial disease that is influenced by both environmental and genetic factors. The last two decades of research strongly demonstrate that genetic factors contribute about 75% of the IVDD etiology. Recent total genome sequencing studies have shed light on the various single-nucleotide polymorphisms (SNPs) that are associated with IVDD.AimThis review presents comprehensive and updated information about the diversity of genetic factors in the inflammatory, degradative, homeostatic, and structural systems involved in the IVDD. An organized collection of information is provided regarding genetic polymorphisms that have been identified to influence the risk of developing IVDD. Understanding the proteins and signaling systems involved in IVDD can lead to improved understanding and targeting of therapeutics.Materials and methodsAn electronic literature search was performed using the National Library of Medicine for publications using the keywords genetics of IVDD, lumbar disc degeneration, degenerative disc disease, polymorphisms, SNPs, and disc disease. The articles were then screened based on inclusion criteria that included topics that covered the correlation of SNPs with developing IVDD. Sixty-five articles were identified as containing relevant information. Articles were excluded if they investigated lower back pain or just disc herniation without an analysis of disc degeneration. This study focuses on the chronic degeneration of IVDs.ResultsVarious genes were identified to contain SNPs that influenced the risk of developing IVDD. Among these are genes contributing to structural proteins, such as COL1A1, COL9A3, COL9A3, COL11A1, and COL11A2, ACAN, and CHST3. Furthermore, various SNPs found in the vitamin-D receptor gene are also associated with IVDD. SNPs related to inflammatory cytokine imbalance are associated with IVDD, although some effects are limited by sex and certain populations. SNPs in genes that code for extracellular matrix-degrading enzymes, such as MMP-1, MMP-2, MMP-3, MMP-9, MMP-14, ADAMTS-4, and ADAMTS-5 are also associated with IVDD. Apoptosis-mediating genes, such as caspase 9 gene (CASP9), TRAIL, and death receptor 4 (DR4), as well as those for growth factors, such as growth differentiation factor 5 and VEGF, are identified to have polymorphisms that influence the risk of developing IVDD.ConclusionWithin the last 10 years, countless new SNPs have been identified in genes previously unknown to be associated with IVDD. Furthermore, the last decade has also revealed new SNPs identified in genes already known to be involved with increased risk of developing IVDD. Improved understanding of the numerous genetic variants behind various pathophysiological elements of IVDD could help advance personalized care and pharmacotherapeutic strategies for patients suffering from IVDD in the future.

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“…In 1999, we first found that multilevel and severe disc degeneration was present in the participants with shorter VNTR length of AGC using 64 young subjects in their 20s 30) . Numerous studies have been conducted since then 50,64,65,75,114) . Meta-analysis using the data from 1995 to 2013 suggested an increased risk of shorter alleles compared with normal alleles and longer alleles against LDDg among populations, especially among those of Asian descent 114) .…”

Section: Genomic Research Using Dna Polymorphismsmentioning

confidence: 99%

“…Numerous studies have been conducted since then 50,64,65,75,114) . Meta-analysis using the data from 1995 to 2013 suggested an increased risk of shorter alleles compared with normal alleles and longer alleles against LDDg among populations, especially among those of Asian descent 114) . However, such an association may not be statistically significant in European populations.…”

Section: Genomic Research Using Dna Polymorphismsmentioning

confidence: 99%

“…The polymorphism in the susceptible gene might produce structural change in the intervertebral disc component, resulting in symptomatic LDDg or LDDs. 30,50,64,65,75,114) AGC is a proteoglycan, which is a critical component for cartilage and intervertebral disc structure. Proteoglycans are responsible for the high water content and play a role in the load bearing function.…”

Section: Genomic Research Using Dna Polymorphismsmentioning

confidence: 99%

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Genetic background of degenerative disc disease in the lumbar spine

Kawaguchi

2018

Spine Surg Relat Res

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Abstract:This is a review paper on the topic of genetic background of degenerative disc diseases in the lumbar spine. Lumbar disc diseases (LDDs), such as lumbar disc degeneration and lumbar disc herniation, are the main cause of low back pain. There are a lot of studies that tried to identify the causes of LDDs. The causes have been categorized into environmental factors and genetic factors. Recent studies revealed that LDDs are mainly caused by genetic factors. Numerous studies have been carried out using the genetic approach for LDDs. The history of these studies is divided into three periods: (1) era of epidemiological research using familial background and twins, (2) era of genomic research using DNA polymorphisms to identify susceptible genes for LDDs, and (3) era of functional research to determine how the genes cause LDDs. This review article was undertaken to present the history of genetic approach to LDDs and to discuss the current issues and future perspectives.

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Aggrecan Variable Number of Tandem Repeat Polymorphism and Lumbar Disc Degeneration

Abstract: Our results suggest an increased risk of shorter alleles compared with normal alleles and longer alleles against lumbar disc degeneration among populations especially among Asian descent. Such association may not be statistically significant in European populations.

Cited by 17 publications

References 32 publications

Genetic aspects of intervertebral disc degeneration

Genetic aspects of intervertebral disc degeneration

Genetic Alterations in Intervertebral Disc Disease

Genetic background of degenerative disc disease in the lumbar spine

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