Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population

Han, In Ho; Ropper, Alexander E.; Teng, Yong; Shin, Dong-Eun; Jeon, Young Joo; Park, H.M.; Shin, Dong Eun; Park, Y.S.; Kim, K.N.; Kim, N.-K.

doi:10.4238/2013.july.8.10

Cited by 20 publications

(22 citation statements)

References 40 publications

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“…Other genes (ADH2 49) , GCH1 68) , COMT 67,78) , HAPLN1 70) , Caspase 9 71,84) , GDF5 72) , FAS 73) , FASL 73) , BCL-2 77) , DR4 79) , PARK 2 80) , VEGF 87) , eNOS 87) , HIF-1α 88) , ADAMTS4 105) , ADAMTS5 92) , ADIPOQ 95) , and TRAIL 100,101) ) There are several genes whose genetic polymorphisms are associated with LDDs. The information is very important and interesting.…”

Section: Kiaa1217 (Skt)unclassified

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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Section: Kiaa1217 (Skt)unclassified

Genetic background of degenerative disc disease in the lumbar spine

Kawaguchi

2018

Spine Surg Relat Res

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“…Similar studies have investigated the influence of vascular endothelial growth factor ( VEGF ) gene polymorphisms and their link to IVDD (55). IVDs are some of the largest avascular structures within the human body.…”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

“…Consequently, they rely on small capillaries extending from the lumbar artery to help remove metabolic waste (5). One of the main features of a severely degenerated disc is neovascularization penetrating the AF, hence, the interest in VEGF, a key mediator of angiogenesis (55). Han et al found that when a patient possessed multiple VEGF SNPs, there was a significant association with IVDD (55).…”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

“…One of the main features of a severely degenerated disc is neovascularization penetrating the AF, hence, the interest in VEGF, a key mediator of angiogenesis (55). Han et al found that when a patient possessed multiple VEGF SNPs, there was a significant association with IVDD (55). For example, a patient with the genotype of -2578CA or AA, combined with -634CC genotype, was at a 21-fold increased risk of IVDD.…”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

“…For example, a patient with the genotype of -2578CA or AA, combined with -634CC genotype, was at a 21-fold increased risk of IVDD. With limited data, it is difficult to conclude with certainty that VEGF SNPs are associated with IVDD; however, Han et al (55) have helped establish the preliminary data to warrant further investigation into VEGF polymorphisms.…”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

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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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