Dataset Information

Association of adiponectin protein and ADIPOQ gene variants with lumbar disc degeneration.

ABSTRACT: Lumbar disc degeneration (LDD) is a widespread public health problem that may lead to disability and loss of productivity. Adiponectin is an adipokine secreted by adipose tissue and has been shown to be involved in cartilage homeostasis. In the present study, the association between the rs266729 (-11377C/G) and rs2241766 (45T/G) single nucleotide polymorphisms (SNPs) in the adiponectin gene (ADIPOQ) and LDD was investigated. In addition, the correlation between the plasma adiponectin level and LDD was examined. A total of 289 subjects, 168 patients with LDD and 122 healthy individuals, were recruited in the study. All subjects were genotyped for rs266729 and rs2241766 SNPs using polymerase chain reaction-restriction fragment length polymorphism. Circulating levels of adiponectin protein were measured using the ELISA technique. A strong association was found between adiponectin level and LDD (P<0.01), where high levels of adiponectin were found in patients compared with healthy controls. The increase in adiponectin level was not affected by gender. However, no significant differences were found in the genotype distribution or allelic frequency of the two examined polymorphisms between patients with LDD and healthy controls (P>0.05). In conclusion, adiponectin appears to be elevated in patients with LDD. The rs266729 and rs2241766 SNPs in the ADIPOQ gene are not associated with LDD.

SUBMITTER: Khabour OF

PROVIDER: S-EPMC4151636 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature

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Association of adiponectin protein and ADIPOQ gene variants with lumbar disc degeneration.

Khabour Omar F OF Abu-Rumeh Lama L Al-Jarrah Muhammed M Jamous Mohammed M Alhashimi Farah F

Experimental and therapeutic medicine 20140818 4

Lumbar disc degeneration (LDD) is a widespread public health problem that may lead to disability and loss of productivity. Adiponectin is an adipokine secreted by adipose tissue and has been shown to be involved in cartilage homeostasis. In the present study, the association between the rs266729 (-11377C/G) and rs2241766 (45T/G) single nucleotide polymorphisms (SNPs) in the adiponectin gene (ADIPOQ) and LDD was investigated. In addition, the correlation between the plasma adiponectin level and L ...[more]

PMID: 25187851

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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) (χ2=1.034, P=0.998), and there was no statistically significant difference in T and C (χ2=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.

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.

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.

Dataset Information

Association of adiponectin protein and ADIPOQ gene variants with lumbar disc degeneration.

Publications

Association of adiponectin protein and ADIPOQ gene variants with lumbar disc degeneration.

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