Association of adiponectin protein and ADIPOQ gene variants with lumbar disc degeneration.
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ABSTRACT:
SUBMITTER: Khabour OF
PROVIDER: S-EPMC4151636 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
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Project description:Lumbar disc disease (LDD) is a common musculoskeletal disorder, caused by degeneration of intervertebral discs of the lumbar spine and is one of the most common musculoskeletal disorders affliction in adult. There is growing evidence that LDD has strong genetic determinants. We analyze whether the IL4 and IL6 gene polymorphism is related to LDD in Chinese Han population. The participants were 498 with LDD and 463 without LDD. IL4 and IL6 gene polymorphism were determined by Sequenom MassARRAY. We found that SNPs rs1800796(OR = 1.29, 95% CI, 1.07 - 1.57, p = 0.009), rs1524107(OR = 1.28, 95% CI, 1.05 - 1.55, p = 0.013), rs2069840 (OR = 1.39, 95% CI, 1.03 - 1.89, p = 0.033) in IL6 gene were significantly associated with LDD risk at a 5% level. In addition, genetic models found IL4 gene (rs2243250) were associated with LDD. In this study, we analyzed and associated SNPs of IL4 and IL6 with LDD risk. In summary, four variations (rs1800796, rs1524107, rs2069840, rs2243250) of the selected candidate SNPs were associated with susceptibility to LDD in our study. The results of this study have the guiding significance in clinical work in the future in the treatment of lumbar disc herniation patients, not one-sided that the symptoms of low back pain only from mechanical oppression.
| S-EPMC5687669 | biostudies-literature
Project description:ObjectiveLow 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.MethodsA 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.ResultsFifty-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).ConclusionsBased 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.
| S-EPMC3503778 | biostudies-literature
Project description:The association between growth differentiation factor 5 (GDF5), single nucleotide polymorphism (SNP) rs143383 and lumbar disc degeneration (LDD) was investigated. A total of 210 patients with LDD (observation group) and 320 patients without lumbar diseases (control group) diagnosed in Shanghai General Hospital of Nanjing Medical University from August 2013 to March 2017 were randomly selected. Then, deoxyribonucleic acid (DNA) was extracted from the blood of each patient, and Taq-man fluorescent quantitative polymerase chain reaction (qPCR) technique was used to detect rs143383 in GFD5 gene. The frequency of different genotypes in observation group and control group was counted, and the associations between different SNP genotypes and the incidence of LDD were analyzed. Good genotyping results were found in both LDD patient group and control group. There were no significant differences in distribution frequency of TT and TC genotypes at site rs143383 between LDD patient group and control group (P>0.05), but the distribution frequency of CC genotype at site rs143383 in LDD patient group had a statistically significant difference from that in control group (P<0.05). In dominant models, odds ratio (OR) of (TC+CC/TT) was 1.195 (P=0.532). In recessive models, OR of (CC/TT+TC) was 4.333 (P=0.028). In co-dominant models, ORs of (TC/TT) and (CC/TT) were 0.967 and 4.43, respectively (P=0.99). The differences in 3 genotypes showed no statistical significance among different pathological grades (Grade I to V) (?2=1.034, P=0.998), and there was no statistically significant difference in T and C (?2=0.012, P=0.999). Pathological grades in dominant models, recessive models and over dominant models were analyzed, and no statistically significant difference was found (P>0.05). In conclusion, CC mutant type at rs143383 in GDF5 gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades.
| S-EPMC6122412 | biostudies-literature
Project description:ObjectivesOccupational physical loading has been reported to be associated with intervertebral disc degeneration. However, previous literature reports inconsistent results for different vertebral levels. The aim of our study was to investigate the association between lumbar disc degeneration (LDD) at different vertebral levels and the self-reported physical loading of occupation.MethodsThe study population consisted of 1,022 postmenopausal women and was based on the prospective Kuopio Osteoporosis Risk Factor and Prevention (OSTPRE) study cohort. The severity of LDD was graded from T2-weighted MRI images using the five-grade Pfirrmann classification. Five intervertebral levels (L1-L2 to L5-S1) were studied (total 5110 discs). The self-rated occupational physical loading contained four groups: sedentary, light, moderate, and heavy.ResultsThe heavy occupational physical loading group had higher odds for severe LDD at the L5-S1 vertebral level (OR 1.86, 95% CI: 1.19-2.92, p = .006) in comparison with the sedentary work group. A clear trend of increasing disc degeneration with heavier occupational loading was also observed at the L5-S1 level. Age, smoking, and higher body mass index (BMI) were associated with more severe LDD. Leisure-time physical activity at the age of 11-17 years was associated with less severe LDD. Controlling for confounding factors did not alter the results.ConclusionsThere appears to be an association between occupational physical loading and severe disc degeneration at the lower lumbar spine in postmenopausal women. Individuals in occupations with heavy physical loading may have an increased risk for work-related disability due to more severe disc degeneration.
| S-EPMC8793002 | biostudies-literature
Project description:PurposeTo evaluate whether midsagittal (abdominal) obesity in magnetic resonance imaging (MRI), waist circumference (WC) and body fat percentage are associated with lumbar disc degeneration in early adulthood.MethodsWe obtained the lumbar MRI (1.5-T scanner) of 325 females and 233 males at a mean age of 21 years. Lumbar disc degeneration was evaluated using Pfirrmann classification. We analysed the associations of MRI measures of obesity (abdominal diameter (AD), sagittal diameter (SAD), ventral subcutaneous thickness (VST), and dorsal subcutaneous thickness (DST)), WC and body fat percentage with disc degeneration sum scores using ordinal logistic regression.ResultsA total of 155 (48%) females and 147 (63%) males had disc degeneration. AD and SAD were associated with a disc degeneration sum score of ≥3 compared to disc degeneration sum score of 0-2 (OR 1.67; 95% confidence interval (CI) 1.20-2.33 and OR 1.40; 95% CI 1.12-1.75, respectively) among males, but we found no association among females. WC was also associated with disc degeneration among males (OR 1.03 per one cm; 95% CI 1.00-1.05), but not among females.ConclusionMeasures of abdominal obesity in MRI and waist circumference were associated with disc degeneration among 21-year-old males.
| S-EPMC3571955 | biostudies-literature
Project description:Type 2 diabetes mellitus (T2DM) is a worldwide health problem caused by resistance to insulin action. This chronic debilitating diseaseis preceded by a stage, known as prediabetes, in which a healthy lifestyle can delay the disease. The discovery of biochemical changes in prediabetes is important to identify individuals at risk of developing T2DM and in explaining disease pathogenesis. Adiponectin is secreted by fat cells and is linked with insulin resistance. Adiponectin levels are dysregulated in prediabetic subjects. This relationship had not been tested in Jordan. We recruited 130 subjects with prediabetes and 130 control subjects. We measured serum levels of adiponectin and genotyped subjects for three single nucleotide polymorphisms (SNPs) in the ADIPOQ gene; rs266729, rs1501299 and rs2241766. In multivariate analysis, we found that serum adiponectin lowers the risk of prediabetes (p = 0.002; odds ratio (OR), 0.764; 95% confidence interval (CI), 0.646⁻0.905). The rs1501299 SNP of the ADIPOQ gene was associated with prediabetes in our population (p = 0.041). Specifically, in multivariate analysis, the GT genotype of rs1501299 increased the risk of prediabetes (p = 0.010; OR, 2.350; 95% CI, 1.231⁻4.486) as well as the TT genotype (p = 0.006; OR, 4.774; 95% CI, 1.551⁻14.693). Our findings indicate that serum adiponectin and SNPs in the ADIPOQ gene are associated with prediabetes in Jordan.
| S-EPMC6316320 | biostudies-literature
Project description:Adiponectin, secreted mainly by mature adipocytes, is a protein with insulin-sensitising and anti-atherogenic effects. Human adiponectin is encoded by the ADIPOQ gene on the chromosomal locus 3q27. Variations in ADIPOQ are associated with obesity, type 2 diabetes (T2DM) and related phenotypes in several populations. Our aim was to study the association of the ADIPOQ variations with body weight, serum adiponectin concentrations and conversion to T2DM in overweight subjects with impaired glucose tolerance. Moreover, we investigated whether ADIPOQ gene variants modify the effect of lifestyle changes on these traits.Participants in the Finnish Diabetes Prevention Study were randomly assigned to a lifestyle intervention group or a control group. Those whose DNA was available (n = 507) were genotyped for ten ADIPOQ single nucleotide polymorphisms (SNPs). Associations between SNPs and baseline body weight and serum adiponectin concentrations were analysed using the univariate analysis of variance. The 4-year longitudinal weight data were analysed using linear mixed models analysis and the change in serum adiponectin from baseline to year four was analysed using Kruskal-Wallis test. In addition, the association of SNPs with the risk of developing T2DM during the follow-up of 0-11 (mean 6.34) years was analysed by Cox regression analysis.rs266729, rs16861205, rs1501299, rs3821799 and rs6773957 associated significantly (p < 0.05) with body weight at baseline and in the longitudinal analyses. The rs266729 C allele and the rare minor alleles of rs2241766 and rs2082940 were associated with an increased adjusted hazard ratio of developing T2DM. The differences in baseline serum adiponectin concentrations were seen according to rs16861210, rs17366568, rs2241766, rs6773957 and rs2082940 and differences in the change of serum adiponectin levels from baseline to the four year examination were seen according to rs16861205, especially in subjects who were able to lose weight during the first year of intervention.These results from the Finnish Diabetes Prevention Study support the concept that genetic variation in ADIPOQ locus contributes to variation in body size and serum adiponectin concentrations and may also modify the risk of developing T2DM.ClinicalTrials.gov NCT00518167.
| S-EPMC3032655 | biostudies-literature
Project description:Background and Objectives: Lumbar disc degeneration (LDD) is the main cause of lower back pain and leads to corresponding disc height loss. Although lumbar interbody fusion (LIF) is commonly used for treating LDD, several different treatment strategies are available. We performed a minimally invasive full-endoscopic LIF (FELIF) using a uniportal full-endoscopic system. Materials and Methods: FELIF was performed for 12 patients with LDD with disc-height loss using a 4.1 mm working channel endoscope and a newly developed slider for cage insertion. The mean age of the patients was 68.3 years; the patients presented with single vertebral level involvement. The Brandner's disc index was used for evaluating the postoperative increase in the disc height. Preoperative and postoperative leg pain was evaluated using the numerical rating scale (NRS) score. Results: The mean operation time for FELIF was 109.4 min. The mean duration of hospital stay after FELIF was 7.7 days. There were no operative and postoperative complications, even without drainage during the mean follow-up period of 6.2 months (range, 2-10 months). The Brandner's disc index improved statistically significant (p > 0.01). The mean preoperative and postoperative NRS scores were 6.5 and 1.2, respectively. Conclusions: FELIF using a 4.1 mm working channel endoscope can be used for treating LDD with disc height loss. Radiculopathy caused by foraminal stenosis was the most suitable operative indication for FELIF.
| S-EPMC7559920 | biostudies-literature
Project description:Accumulating evidence indicates noncoding RNAs (ncRNAs) fine-tune gene expression with mysterious machinery. We conducted a combination of mRNA, miRNA, circRNA, LncRNA microarray analyses on 10 adults' lumbar discs. Moreover, we performed additional global exploration on RNA interacting machinery in terms of in silico computational pipeline. Here we show the landscape of RNAs in human lumbar discs. In general, the RNA-abundant landscape comprises 14,635 mRNAs (37.93%), 2,059 miRNAs (5.34%), 18,995 LncRNAs (49.23%) and 2,894 (7.5%) circRNAs. Chromosome 1 contributes for RNA transcription at most (10%). Bi-directional transcription contributes evenly for RNA biogenesis, in terms of 5' to 3' and 3' to 5'. Despite the majority of circRNAs are exonic, antisense (1.49%), intergenic (0.035%), intragenic (1.69%), and intronic (6.29%) circRNAs should not be ignored. A single miRNA could interact with a multitude of circRNAs. Notably, CDR1as or ciRS-7 harbors 66 consecutive binding sites for miR-7-5p (previous miR-7), evidencing our pipeline. The majority of binding sites are perfect-matched (78.95%). Collectively, global landscape of RNAs sheds novel insights on RNA interacting mechanisms in human intervertebral disc degeneration.
| S-EPMC5325354 | biostudies-literature
Project description:BackgroundInflammatory and matrix degrading gene variants have been reported to be associated with disc degeneration. Some of these variants also modulate peripheral pain. This study examines the association of these genetic variants with radiographic lumbar disc degeneration and changes in pain and disability at long-term after surgical and cognitive behavioural management.Methods93 unrelated patients with chronic low back pain (CLBP) for duration of >1 year and lumbar disc degeneration were treated with lumbar fusion or cognitive intervention and exercises. Standardised questionnaires included the Oswestry Disability Index (ODI) and Visual Analog Score (VAS) for CLBP, were filled in by patients both at baseline and at 9 years follow-up. Degenerative changes at baseline Magnetic Resonance Imaging and Computed Tomography scans, were graded as moderate and severe (N=79). Yield and quality of blood and saliva DNA was assessed by nano drop spectrophotometry. Eight SNPs in 5 inflammatory and matrix degrading genes were successfully genotyped. Single marker and haplotype association with severity of degeneration, number of discs involved, changes in ODI and VAS CLBP, was done using Haploview, linear regression and R-package Haplostats.ResultsAssociation analysis of individual SNPs revealed association of IL18RAP polymorphism rs1420100 with severe degeneration (p = 0.05) and more than one degenerated disc (p = 0.02). From the same gene two SNPs, rs917997 and rs1420106, were found to be in strong linkage disequilibrium (LD) and were associated with post treatment improvement in disability (p = 0.02). Haplotype association analysis of 5 SNPs spanning across IL18RAP, IL18R1 and IL1A genes revealed significant associations with improvement in disability (p=0.02) and reduction in pain (p=0.04). An association was found between MMP3 polymorphism rs72520913 and improvement in pain (p = 0.03) and with severe degeneration (p = 0.006).ConclusionsThe findings of the current study suggest a role of variation at inflammatory and matrix degrading genes with severity of lumbar disc degeneration, pain and disability.
| S-EPMC3610293 | biostudies-literature