Dataset Information

Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.

ABSTRACT: The aim of this study is to investigate the expression levels of genome-wide association studies (GWAS)-identified variants near Gasdermin-C (GSDMC) and its association with lumbar disc degeneration (LDD) in a Chinese population. In accordance with previously reported findings, our study involved the top 4 variants; rs6651255, rs7833174, rs4130415, and rs7816342. A total of 800 participants, 400 LDD patients and 400 controls were involved in the study. The LDD patients were divided into two mutually exclusive subgroups: subgroup 1: lumbar disc herniation; subgroup 2: lumbar spinal stenosis. Genotyping were performed using TaqMan assay, and Enzyme-Linked Immunosorbent Assay (ELISA) used to measure the plasma GSDMC levels, while quantitative reverse-transcription (qRT)-PCR and immunohistochemistry (IHC) were used to evaluate the GSDMC expression levels. Among the studied variants, there were no statistically significant differences in allelic and genotypic frequencies between LDD patients and their controls (all P?>?0.05). However, the subgroup analysis revealed a significant association between rs6651255 and rs7833174 in patients with lumbar spinal stenosis (subgroup 2). Furthermore, the max-statistic test revealed that the inheritance models of two variants of lumbar spinal stenosis were represented by the recessive model. The plasma and mRNA expression levels of GSDMC were significantly higher in patients with lumbar spinal stenosis compared with the control group (P?

SUBMITTER: Jiang H

PROVIDER: S-EPMC7713291 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.

Jiang Hua H Moro Abu A Liu Yang Y Wang Jiaqi J Meng Dihua D Zhan Xinli X Wei Qingjun Q

Scientific reports 20201203 1

The aim of this study is to investigate the expression levels of genome-wide association studies (GWAS)-identified variants near Gasdermin-C (GSDMC) and its association with lumbar disc degeneration (LDD) in a Chinese population. In accordance with previously reported findings, our study involved the top 4 variants; rs6651255, rs7833174, rs4130415, and rs7816342. A total of 800 participants, 400 LDD patients and 400 controls were involved in the study. The LDD patients were divided into two mutu ...[more]

PMID: 33273635

Similar Datasets

Project description:Purpose:To develop a self-administered diagnostic screening questionnaire for lumbar spinal stenosis (LSS) consisting of items with high content validity and to investigate the diagnostic value of the questionnaire and the items. Patients and Methods:A self-reported diagnostic LSS screening questionnaire was developed based on items from the existing literature describing key symptoms of LSS. The screening questionnaire (index test) was to be tested in a cohort of patients with persistent lumbar and/or leg pain recruited from a Danish publicly funded outpatient secondary care spine clinic with clinicians performing the reference test. However, to avoid unnecessary collection of data if the screening questionnaire proved to be of limited value, a case-control design was incorporated into the cohort design including an interim analysis. Additional cases for the case-control study were recruited at two Danish publicly funded spine surgery departments. Prevalence, sensitivity, specificity and diagnostic odds ratio (OR) were calculated for each individual item, and AUC (area under the curve) was calculated to examine the performance of the full questionnaire. Results:A 13-item Danish questionnaire was developed and tested in 153 cases and 230 controls. The interim analysis was not in favour of continuing the cohort study, and therefore, only results from the case-control study are reported. There was a positive association for all items except the presence of back pain. However, the association was only moderate with ORs up to 3.3. When testing the performance of the whole questionnaire, an AUC of 0.72 was reached with a specificity of 20% for a fixed sensitivity of 95%. Conclusion:The items were associated with LSS and therefore have some potential to identify LSS patients. However, the association was not strong enough to provide sufficient accuracy for a diagnostic tool. Additional dimensions of symptoms of LSS need identification to obtain a reliable questionnaire for screening purposes.

Project description:Study questionDo genetic polymorphisms which influence age at menarche in women of European ancestry also influence women of Chinese ancestry?Summary answerMany genetic variants influencing age at menarche in European populations appear to impact Chinese populations in a similar manner.What is known and what this paper addsPrior genome-wide association studies have uncovered 42 SNPs associated with age at menarche in European populations. This study is the first to demonstrate that many of the genetic determinants of age at menarche are shared between European and Chinese women.Participants and settingWe evaluated 37 of 42 SNPs identified as associated with age at menarche from a recent, large meta-analysis, consisting primarily of women of European ancestry, in a population of 6929 Chinese women from Shanghai, China. We also constructed weighted genetic risk scores (GRSs) combining the number of effect variants for all 37 SNPs, or only the SNPs associated with age at menarche among our study population, to evaluate their joint influence on age at menarche.Main resultsFor 32 of the 37 evaluated variants, the direction of the allele associations were the same between women of European ancestry and women of Chinese ancestry (P = 3.71 × 10(-6), binomial sign test); 9 of these were statistically significant. Subjects in the highest quintile of GRSs began menarche ∼5 months later than those in the lowest quintile. BIAS, LIMITATIONS AND GENERALIZABILITY TO OTHER POPULATIONS: Age at menarche was obtained by self-report, which can be subject to recall errors. The current analysis was restricted to loci which met or approached GWAS significance thresholds and did not evaluate loci which may act predominantly or exclusively in the Chinese population. The smaller sample size for our meta-analysis compared with meta-analyses conducted in European populations reduced the power to detect significant results.Study funding/competing interestsThis study was supported, in part, by grants from US National Institutes of Health (grants R01CA124558, R01CA090899, R01CA070867; R01CA064277 and R01CA092585 and UL1 RR024975), Ingram professorship funds and Allen Foundation funds. There are no competing interests to declare.

Project description:ObjectiveTo comprehensively compare and assess the effects of different lumbar fusion techniques in patients with lumbar spinal stenosis (LSS).MethodsPubMed, Embase, Cochrane Library, and Web of Science databases were systematically searched up to December 24, 2022 in this network meta-analysis. Outcomes were pain (pain, low back pain, and leg pain), Japanese Orthopaedic Association (JOA), Oswestry Disability Index (ODI), complications, reoperation, and fusion. Network plots illustrated the direct and indirect comparisons of different fusion techniques for the outcomes. League tables showed the comparisons of any two fusion techniques, based on both direct and indirect evidence. The efficacy of each fusion technique for LSS was ranked by rank probabilities.ResultsTotally 29 studies involving 2,379 patients were eligible. For pain, percutaneous endoscopic transforaminal lumbar interbody fusion (Endo-TLIF) was most likely to be the best technique, followed by minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF), extreme lateral interbody fusion (XLIF), and transforaminal lumbar interbody fusion (TLIF). Percutaneous endoscopic posterior lumbar interbody fusion (Endo-PLIF) had the greatest likelihood to be the optimal technique for low back pain, followed sequentially by MIS-TLIF, minimally invasive posterior lumbar interbody fusion (MIS-PLIF), XLIF, Endo-TLIF, TLIF, oblique lumbar interbody fusion (OLIF), posterior lumbar interbody fusion (PLIF), and posterolateral lumbar fusion (PLF). MIS-PLIF was ranked the most effective technique concerning leg pain, followed by Endo-TLIF, MIS-TLIF, TLIF, Endo-PLIF, PLIF, OLIF, PLF, and XLIF. As regards JOA scores, Endo-TLIF had the maximum probability to be the best technique, followed by MIS-TLIF and TLIF. Endo-PLIF had the greatest likelihood to be the optimum technique for complications, followed by TLIF, MIS-TLIF, Endo-TLIF, OLIF, and XLIF.ConclusionMinimally invasive fusion techniques may be effective in the treatment of LSS, compared with traditional techniques. Minimally invasive techniques were likely non-inferior with regards to postoperative complications.

Dataset Information

Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.

Publications

Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets