Dataset Information

Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.

ABSTRACT: Lumbar disc herniation (LDH) is one of the most common musculo-skeletal diseases. Recent studies have indicated that LDH has strong genetic determinants, and several susceptibility genes have been reported to associate with LDH; however, its etiology and pathogenesis still remain unclear. KIAA1217 (alias SKT, the human homolog of murine Skt [Sickle tail]) is a good candidate for an LDH susceptibility gene because SKT is specifically expressed in nucleus pulposa of intervertebral discs (IVDs) in humans and mice, and Skt(Gt) mice, which are established through a large-scale gene-trap mutagenesis, exhibit progressive, postnatal onset abnormality of the IVDs. Here, we report the association of SKT with LDH. Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association with SKT rs16924573 in the allele frequency model (p = 0.0015). The association was replicated in a Finnish case-control population (p = 0.026). The combined p value of the two population by meta-analysis is 0.00040 (OR, 1.34; 95% CI, 1.14-1.58). Our data indicate that SKT is involved in the etiology of LDH.

SUBMITTER: Karasugi T

PROVIDER: S-EPMC2730928 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature

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Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.

Karasugi Tatsuki T Semba Kei K Hirose Yuichiro Y Kelempisioti Anthi A Nakajima Masahiro M Miyake Atsushi A Furuichi Tatsuya T Kawaguchi Yoshiharu Y Mikami Yasuo Y Chiba Kazuhiro K Kamata Michihiro M Ozaki Kouichi K Takahashi Atsushi A Mäkelä Pirkka P Karppinen Jaro J Kimura Tomoatsu T Kubo Toshikazu T Toyama Yoshiaki Y Yamamura Ken-Ichi K Männikkö Minna M Mizuta Hiroshi H Ikegawa Shiro S

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20090901 9

Lumbar disc herniation (LDH) is one of the most common musculo-skeletal diseases. Recent studies have indicated that LDH has strong genetic determinants, and several susceptibility genes have been reported to associate with LDH; however, its etiology and pathogenesis still remain unclear. KIAA1217 (alias SKT, the human homolog of murine Skt [Sickle tail]) is a good candidate for an LDH susceptibility gene because SKT is specifically expressed in nucleus pulposa of intervertebral discs (IVDs) in ...[more]

PMID: 19338451

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Project description:BackgroundProfessional basketball players are at risk for lumbar disc herniation (LDH), yet the evidence guiding treatment after operative or nonoperative management of this condition in the National Basketball Association (NBA) is limited.HypothesisNBA players with LDH will have different performance outcomes based on treatment type.Study designCase-control study.Level of evidenceLevel 4.MethodsAthletes in the NBA with an LDH were identified through team injury reports, transaction records, and public sports archives. A 1:2 case-control study was performed in which LDH players and players without LDH were matched for player variables. Statistical analysis was employed to compare pre- and postindex season performance (games played and player efficiency rating [PER]) and career longevity between test subjects and controls in the operatively treated (OT) and nonoperatively treated (NOT) cohorts.ResultsA total of 61 NBA players with LDH were included, of whom 34 underwent discectomy and 27 were managed nonoperatively. Return-to-play (RTP) rates did not differ between NOT and OT players (77.8% vs. 79.4%). When compared with controls, OT players played significantly fewer games and had a lower PER than controls during the first postoperative season, but no difference was seen 2 and 3 years after surgery, with no difference in postoperative career length. In contrast, no difference in games played or PER was seen between NOT players and controls, although NOT players played significantly fewer postindex seasons.ConclusionNBA players have a high RTP rate regardless of type of treatment for LDH; however, postindex performance differs between surgically and nonoperatively managed patients when compared with players without an LDH. However, further studies with a larger sample size are required for more definitive recommendations.Clinical relevanceThere is a high RTP rate after LDH in the NBA, although postindex performance may differ based on operative versus nonoperative treatment.

Project description:Study designSecondary analysis of data from a concurrent randomized trial and cohort study.ObjectiveThe aim of this study was to determine risks and predictors of recurrent pain following standard open discectomy for subacute/chronic symptomatic lumbar disc herniation (SLDH).Summary of background dataMost previous studies of recurrence after discectomy do not explicitly define pain resolution and recurrence, and do not account for variable durations of time at risk for recurrence.MethodsWe used survival analysis methods to examine predictors of leg pain recurrence. For individuals with initial resolution of leg pain, we defined recurrent leg pain as having leg pain, receiving lumbar epidural steroid injections, or undergoing lumbar surgery subsequent to initial leg pain resolution. We calculated cumulative risks of leg pain recurrence using Kaplan-Meier survival curves, and examined predictors of recurrence using Cox proportional hazards models. We used similar methods to examine LBP recurrence.ResultsOne- and three-year cumulative risks of leg pain recurrence were 20% and 45%, respectively. One- and three- year leg pain recurrence risks were substantially lower in participants with complete initial resolution of leg pain (17% and 41%, respectively) than in those without (27% and 54%, respectively). In multivariate analyses, complete leg pain resolution (adjusted hazard ratio [aHR] 0.69; 95% confidence interval [CI] 0.52-0.90), smoking (aHR 1.68 [95% CI 1.22-2.33]), and depression (aHR 1.74 [95% CI 1.18-2.56]) predicted leg pain recurrence. The 1- and 3-year risk of LBP recurrence was 29% and 65%, respectively. LBP recurrence risk at 3 years was substantially lower in participants with complete initial resolution of LBP than in those without, but not at 1 year.ConclusionRecurrence of leg pain and LBP is common after discectomy for SLDH. Cumulative risks of both leg pain and LBP recurrence were generally lower in participants achieving complete initial resolution of pain post-discectomy.Level of evidence2.

Project description:BackgroundPainful lumbar radiculopathy is a neuropathic pain condition, commonly attributed to nerve root inflammation/compression by disc herniation. The present exploratory study searched for associations between pain intensity and inflammatory markers, herniated disc size, infection, psychological factors and pain modulation in patients with confirmed painful lumbar radiculopathy scheduled for spine surgery.MethodsPrior to surgery, 53 patients underwent the following evaluation: pain intensity measured on a 0-10 numeric rating scale (NRS) and the Short-Form McGill Pain Questionnaire; sensory testing (modified DFNS protocol); pain processing including temporal summation and conditioned pain modulation (CPM); neurological examination; psychological assessment including Spielberger's Anxiety Inventory, Pain Sensitivity Questionnaire and the Pain Catastrophizing Scale. Pro-inflammatory cytokine levels (IL-1b, IL-6, IL-8, IL-17, TNFα, IFNg) and microbial infection (ELISA and rt-PCR) in blood and disc samples obtained during surgery. MRI scans assessments for disc herniation size/volume (MSU classification/ three-dimensional volumetric analysis).ResultsComplete data were available from 40 (75%) patients (15 female) aged 44.8 ± 16.3 years. Pain intensity (NRS) positively correlated with pain catastrophizing and CPM (r = 0.437, p = 0.006; r = 0.421, p = 0.007; respectively), but not with disc/blood cytokine levels, bacterial infection or MRI measures. CPM (p = 0.001) and gender (p = 0.029) were associated with average pain intensity (adjusted R2 = 0.443).ConclusionsThis exploratory study suggests that pain catastrophizing, CPM and gender, seem to contribute to pain intensity in patients with painful lumbar radiculopathy. The role of mechanical compression and inflammation in determining the intensity of painful radiculopathy remains obscure.Significance of studyPain catastrophizing, CPM and gender rather than objective measures of inflammation and imaging seem to contribute to pain in patients with painful radiculopathy.

Dataset Information

Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.

Publications

Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.

Similar Datasets

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