Dataset Information

Association analysis between thrombospondin-2 gene polymorphisms and intervertebral disc degeneration in a Chinese Han population.

ABSTRACT: The aim of this study is to determine the contribution of 2 single nucleotide polymorphisms (SNPs) in thrombospondin 2 (THBS2) gene to the development of intervertebral disc degeneration (IDD) in a Chinese Han population.We studied 138 patients with radiographically proven IDD and 136 healthy volunteers with no history of back problems. Magnetic resonance images (MRIs) were obtained for all the patients and controls. Image evaluation for IDD was performed to evaluate the severity of IDD. All patients and controls were genotyped for rs6422747 and rs6422748. Associations between genotypes and development of IDD were analyzed.We found that 2 SNPs in the intron region of THBS2 gene (rs6422747 and rs6422748) were associated with susceptibility of IDD. However, they were not related with severity of IDD, including the total number of degenerative disc and level of IDD. G allele in both SNPs was associated with a higher risk of IDD.The 2 SNPs (rs6422747 and rs6422748) in the THBS2 gene were associated with susceptibility of IDD but not severity of IDD in a Chinese Han population. Our results indicated that THBS2 gene polymorphisms might be the risk factors for IDD. More studies with larger sample size need to be perfected to make sure the functions of THBS2 gene polymorphisms in IDD development.

SUBMITTER: Yuan B

PROVIDER: S-EPMC5943876 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Association analysis between thrombospondin-2 gene polymorphisms and intervertebral disc degeneration in a Chinese Han population.

Yuan Baisheng B Ji Wei W Fan Bing B Zhang Binglei B Zhao Yulin Y Li Jianmin J

Medicine 20180101 2

The aim of this study is to determine the contribution of 2 single nucleotide polymorphisms (SNPs) in thrombospondin 2 (THBS2) gene to the development of intervertebral disc degeneration (IDD) in a Chinese Han population.We studied 138 patients with radiographically proven IDD and 136 healthy volunteers with no history of back problems. Magnetic resonance images (MRIs) were obtained for all the patients and controls. Image evaluation for IDD was performed to evaluate the severity of IDD. All pat ...[more]

PMID: 29480856

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Project description:STUDY DESIGN:Meta-analysis to collect all the relevant studies to further investigate whether or not the FAS ligand (FASL) and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) genetic polymorphisms are associated with susceptibility to intervertebral disc degeneration (IDD) in Chinese Han population. OBJECTIVE:To investigate whether or not the FASL and TRAIL genetic polymorphisms are associated with susceptibility to IDD in Chinese Han population. SUMMARY OF BACKGROUND DATA:FASL and TRAIL are both apoptotic gene. Several studies have assessed the associations of FASL and TRAIL gene with risk of IDD in Chinese Han population, but the results are inconsistent. METHODS:We systematically searched the PubMed, EMBASE, Medline, Scopus, Web of Science, CBM, and the Cochrane Library databases. Eligible studies assessing the polymorphisms in the FASL and TRAIL gene and risk of IDD were incorporated. The pooled odds ratio (OR) with its 95% confidence intervals (95% CI) was used. RESULTS:Six studies with a total of 1766 IDD cases and 1533 controls were finally included in the meta-analysis. Meta-analysis of FASL-844C/T (rs763110) polymorphism was statistically associated with decreased IDD risk under all genetic models (allele model: OR?=?0.68, 95% CI 0.59-0.80, P?=?0.000; homozygote model: OR?=?0.35, 95% CI 0.25-0.53, P?=?0.000; dominant model: OR?=?0.38, 95% CI 0.25-0.58, P?=?0.000; recessive model: OR?=?0.69, 95% CI 0.58-0.84, P?=?0.000). There was a significant association between TRAIL-1595C/T (rs1131580) polymorphism with increased IDD risk under each genetic model (allele model: OR?=?1.77, 95% CI 1.47-2.13, P?=?0.000; homozygote model: OR?=?2.44, 95% CI 1.70-3.51, P?=?0.000; dominant model: OR?=?1.67, 95% CI 1.22-2.29, P?=?0.002; recessive model: OR?=?3.13, 95% CI 2.40-4.08, P?=?0.000). In addition, the association between TRAIL-1525G/A (rs1131568) polymorphism and the susceptibility of IDD was statistically significant under all genetic models. CONCLUSION:The present meta-analysis demonstrated that FASL and TRAIL polymorphisms were significantly associated with susceptibility to IDD in Chinese Han population. LEVEL OF EVIDENCE:1.

Project description:Background contextDisc degeneration (DD) is a multifaceted chronic process that alters the structure and function of the intervertebral discs and can lead to painful conditions. The pathophysiology of degeneration is not well understood, but previous studies suggest that certain genetic polymorphisms may be important contributing factors leading to an increased risk of DD.PurposeTo review the genetic factors in DD with a focus on polymorphisms and their putative role in the pathophysiology of degeneration. Elucidating the genetic components that are associated with degeneration could provide insights into the mechanism of the process. Furthermore, defining these relationships and eventually using them in a clinical setting may allow an identification and early intervention for those who are at a high risk for painful DD.Study designLiterature review.MethodsThis literature review focused on the studies concerning genetic polymorphisms and their associations with DD.ResultsGenetic polymorphisms in 20 genes have been analyzed in association with DD, including vitamin D receptor, growth differentiation factor 5 (GDF5), aggrecan, collagen Types I, IX, and XI, fibronectin, hyaluronan and proteoglycan link protein 1 (HAPLN1), thrombospondin, cartilage intermediate layer protein (CILP), asporin, MMP1, 2, and 3, parkinson protein 2, E3 ubiquitin protein ligase (PARK2), proteosome subunit ? type 9 (PSMB9), tissue inhibitor of metalloproteinase (TIMP), cyclooxygenase-2 (COX2), and IL1?, IL1?, and IL6. Each genetic polymorphism codes for a protein that has a functional role in the pathogenesis of DD.ConclusionsThere are known associations between several genetic polymorphisms and DD. Of the 20 genes analyzed, polymorphisms in vitamin D receptor, aggrecan, Type IX collagen, asporin, MMP3, IL1, and IL6 show the most promise as functional variants. Genetic studies are crucial for understanding the mechanism of the degeneration. This genetic information could eventually be used as a predictive model for determining a patient's risk for symptomatic DD.

Project description:BACKGROUND:Considered as one of the major causes of low back pain, Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. As inflammation plays an important role in disc degeneration, the genetic changes in both inflammatory and anti-inflammatory genes may play causative roles in IVDD as well. Therefore, the interactions between inflammatory and anti-inflammatory cytokines and also other components of disc matrix would determine the degree of tissue destruction in disc degeneration. However, there is still controversy regarding the exact role of inflammation and disc homeostasis imbalance in pathophysiology of IVDD. Therefore, current study was conducted to investigate the role of IL-10 and TGF-? single nucleotide polymorphisms (SNP) in Iranian IVDD patients. METHODS:Seventy-six IVDD patients and 140 healthy controls were enrolled in this study. Genomic DNA from peripheral leukocytes was tested for 3 SNPs in IL10 (L-10 -1082G/A (rs1800896), IL-10 -819C/T (rs1800871), IL-10 -592A/C (rs1800872)) and 2 SNPs in TGF-? (TGF-? Codon 10 C/T (rs1982037), and TGF-? Codon 25 C/T (rs1800471) genes through PCR-SSP method. The extracted genomic DNA was genotyped for the aforementioned SNPs of interest using specific primers, which were coated in the cytokines KITs and based on the PCR-SSP method for sequencing. RESULTS:The 'T' allele of IL-10 -819C/T and the 'C' allele of IL-10 -592A/C were more prevalent among patients, whereas the 'C' and 'A' alleles of respective SNPs were significantly more frequent in controls. The genotypes including 'CT' of IL-10 -819C/T, 'CA' of IL-10 -592A/C, and 'GA' of IL-10 -1082A/G were more common among patients, while the 'CC' genotype of both IL-10 -819C/T and IL-10 -592A/C SNPs were more frequent in controls. In addition, the IL-10 haplotypes including 'ACC', 'ATA', and 'ACA' were significantly associated with disease. Meanwhile, the 'TC' haplotype of TGF-? was more common among patients as well. CONCLUSIONS:The IL-10 SNPs were significantly associated with IVDD in Iranian population; which proposes that genomic alterations of anti-inflammatory cytokines could lead to homeostasis imbalance in intervertebral discs and degenerative changes.

Dataset Information

Association analysis between thrombospondin-2 gene polymorphisms and intervertebral disc degeneration in a Chinese Han population.

Publications

Association analysis between thrombospondin-2 gene polymorphisms and intervertebral disc degeneration in a Chinese Han population.

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