Systematic review of genome-wide expression studies in multiple sclerosis.

Abstract:

:Background Although recent genome-wide association studies have identified several genetic variants contributing to the complex aetiology of multiple sclerosis (MS), expression and functional studies are required to further understand its molecular basis. Objectives To identify genes and pathways with differential expression in MS. Design The authors conducted a systematic review of seven microarray studies, in which expression in immune cells was compared between MS patients and controls. These studies include a previously unpublished study, which is described here in detail. Results and conclusion Although in general the overlap between studies was poor, 229 genes were found to be differentially expressed in MS in at least two studies, of which 11 were in three studies and HSPA1A in four studies. After excluding the authors' unpublished experiment which may have been affected by certain confounding factors and inclusion of treated subjects, 135 genes were identified in at least two studies. The differentially expressed genes were significantly associated with several immunological pathways, including interleukin (IL)-4, IL-6, IL-17 and glucocorticoid receptor signalling pathways. 15 of the 229 loci have shown some association with MS in published genome-wide association studies (p<0.0001), including three loci with confirmed MS risk variants.

journal_name

BMJ Open

journal_title

BMJ open

authors

Kemppinen AK,Kaprio J,Palotie A,Saarela J

doi

10.1136/bmjopen-2011-000053

subject

Has Abstract

pub_date

2011-07-18 00:00:00

pages

e000053

issue

1

issn

2044-6055

pii

bmjopen-2011-000053

journal_volume

1

pub_type

杂志文章

相关文献

BMJ Open文献大全
  • Body composition: population epidemiology and concordance in Australian children aged 11-12 years and their parents.

    abstract:OBJECTIVES:Overweight and obesity remain at historically high levels, cluster within families and are established risk factors for multiple diseases. We describe the epidemiology and cross-generational concordance of body composition among Australian children aged 11-12 years and their parents. DESIGN:The population-b...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究

    doi:10.1136/bmjopen-2018-023698

    authors: Clifford SA,Gillespie AN,Olds T,Grobler AC,Wake M

    更新日期:2019-07-04 00:00:00

  • Cost-utility analysis of antibiotic treatment in patients with chronic low back pain and Modic changes: results from a randomised, placebo-controlled trial in Norway (the AIM study).

    abstract:OBJECTIVE:To evaluate the cost-utility of 100 days of antibiotics in patients with chronic low back pain (LBP) and type I or II Modic changes included in the Antibiotic treatment In patients with chronic low back pain and Modic changes (AIM) study. DESIGN:A cost-utility analysis from a societal and healthcare perspect...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2019-035461

    authors: Grotle M,Bråten LC,Brox JI,Espeland A,Zolic-Karlsson Z,Munk Killingmo R,Tingulstad A,Grøvle L,Froholdt A,Kristoffersen PM,Wigemyr M,van Tulder MW,Storheim K,Zwart JA,AIM-study group.

    更新日期:2020-06-15 00:00:00

  • Efficacy and safety of cannabidiol followed by an open label add-on of tetrahydrocannabinol for the treatment of chronic pain in patients with rheumatoid arthritis or ankylosing spondylitis: protocol for a multicentre, randomised, placebo-controlled study

    abstract:INTRODUCTION:Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are chronic, systemic, inflammatory diseases, primarily in the musculoskeletal system. Pain and fatigue are key symptoms of RA and AS. Treatment presents a clinical challenge for several reasons, including the progressive nature of the diseases and ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-028197

    authors: Hendricks O,Andersen TE,Christiansen AA,Primdahl J,Hauge EM,Ellingsen T,Horsted TI,Bachmann AG,Loft AG,Bojesen AB,Østergaard M,Lund Hetland M,Krogh NS,Roessler KK,Petersen KH

    更新日期:2019-06-04 00:00:00

  • Distribution and extent of electronic medical record utilisation in eye units across the United Kingdom: a cross-sectional study of the current landscape.

    abstract:OBJECTIVES:Ophthalmology units across the UK vary widely in their adoption of electronic medical records (EMR). There is a lack of evidence to show the extent and progress of EMR adoption. The aim of this study was to capture a snapshot of the current landscape of EMR use, as a baseline for comparison in future studies...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2016-012682

    authors: Lim SB,Shahid H

    更新日期:2017-05-17 00:00:00

  • Supervised pharmacy student-led medication review in primary care for patients with type 2 diabetes: a randomised controlled pilot study.

    abstract:OBJECTIVE:To pilot and feasibility-test supervised final year undergraduate pharmacy student-led medication reviews for patients with diabetes to enable definitive trial design. METHOD:Third year pharmacy students were recruited from one UK School of Pharmacy and trained to review patient's medical records and provide...

    journal_title:BMJ open

    pub_type: 杂志文章,随机对照试验

    doi:10.1136/bmjopen-2015-009246

    authors: Adams RP,Barton G,Bhattacharya D,Grassby PF,Holland R,Howe A,Norris N,Shepstone L,Wright DJ

    更新日期:2015-11-04 00:00:00

  • Relationship between hospital performance measures and outcomes in patients with acute ischaemic stroke: a prospective cohort study.

    abstract:OBJECTIVE:Evidence-based performance measures have been increasingly used to evaluate hospital quality of stroke care, but their impact on stroke outcomes has not been verified. We aimed to evaluate the correlations between hospital performance measures and outcomes among patients with acute ischaemic stroke in a Chine...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-020467

    authors: Zhang X,Li Z,Zhao X,Xian Y,Liu L,Wang C,Wang C,Li H,Prvu Bettger J,Yang Q,Wang D,Jiang Y,Bao X,Yang X,Wang Y,Wang Y

    更新日期:2018-08-01 00:00:00

  • Balance ability in 7- and 10-year-old children: associations with prenatal lead and cadmium exposure and with blood lead levels in childhood in a prospective birth cohort study.

    abstract:OBJECTIVES:Most studies reporting evidence of adverse effects of lead and cadmium on the ability to balance have been conducted in high-exposure groups or have included adults. The effects of prenatal exposure have not been well studied, nor have the effects in children been directly studied. The aim of the study was t...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2015-009635

    authors: Taylor CM,Humphriss R,Hall A,Golding J,Emond AM

    更新日期:2015-12-30 00:00:00

  • Improving the performance of community health workers in humanitarian emergencies: a realist evaluation protocol for the PIECES programme.

    abstract:INTRODUCTION:Understanding what enhances the motivation and performance of community health workers (CHWs) in humanitarian emergencies represents a key research gap within the field of human resources for health. This paper presents the research protocol for the Performance ImprovEment of CHWs in Emergency Settings (PI...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2016-011753

    authors: Gilmore B,Adams BJ,Bartoloni A,Alhaydar B,McAuliffe E,Raven J,Taegtmeyer M,Vallières F

    更新日期:2016-08-16 00:00:00

  • Reduction in stillbirths at term after new birth induction paradigm: results of a national intervention.

    abstract:OBJECTIVE:The risk of fetal death increases steeply after 42 gestational weeks. Since 2009, Denmark has had a more proactive policy including prevention of prolonged pregnancy, and early intervention in women with diabetes, preeclampsia, high body mass index and of a higher age group. The aim of this study was to descr...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2014-005785

    authors: Hedegaard M,Lidegaard Ø,Skovlund CW,Mørch LS,Hedegaard M

    更新日期:2014-08-14 00:00:00

  • Randomised controlled trial of a web-based programme in sustaining best practice alcohol management practices at community sports clubs: a study protocol.

    abstract:INTRODUCTION:Community-based interventions have been found to effectively increase the implementation of alcohol management practices and reduce excessive alcohol use and alcohol-related harm at sports clubs. However, once implementation support ceases there may be a reduction in such intervention effects. Thus, ongoin...

    journal_title:BMJ open

    pub_type: 杂志文章,随机对照试验

    doi:10.1136/bmjopen-2017-017796

    authors: McFadyen T,Wolfenden L,Kingsland M,Tindall J,Rowland B,Sherker S,Gillham K,Heaton R,Clinton-McHarg T,Lecathelinais C,Brooke D,Wiggers J

    更新日期:2018-01-23 00:00:00

  • Simple risk score based on the China Acute Myocardial Infarction registry for predicting in-hospital mortality among patients with non-ST-segment elevation myocardial infarction: results of a prospective observational cohort study.

    abstract:OBJECTIVES:To simplify our previous risk score for predicting the in-hospital mortality risk in patients with non-ST-segment elevation myocardial infarction (NSTEMI) by dropping laboratory data. DESIGN:Prospective cohort. SETTING:Multicentre, 108 hospitals across three levels in China. PARTICIPANTS:A total of 5775 p...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究

    doi:10.1136/bmjopen-2019-030772

    authors: Song C,Fu R,Li S,Yang J,Wang Y,Xu H,Gao X,Liu J,Liu Q,Wang C,Dou K,Yang Y

    更新日期:2019-09-12 00:00:00

  • Knowledge and use of evidence-based medicine in daily practice by health professionals: a cross-sectional survey.

    abstract:OBJECTIVES:Healthcare professionals are expected to firmly ground their practice in sound evidence. That implies that they know and use evidence-based medicine (EBM). In this study, our aim was to know how often health professionals actually made use of EBM in their daily practice. DESIGN:A questionnaire survey of hea...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-025224

    authors: Lafuente-Lafuente C,Leitao C,Kilani I,Kacher Z,Engels C,Canouï-Poitrine F,Belmin J

    更新日期:2019-03-30 00:00:00

  • Impact of the SIGN head injury guidelines and NHS 4-hour emergency target on hospital admissions for head injury in Scotland: an interrupted times series.

    abstract:OBJECTIVES:Head injury is a common reason for emergency department (ED) attendance. Around 1% of patients have life-threatening injuries, while 80% of patients are discharged. National guidelines (Scottish Intercollegiate Guidelines Network (SIGN)) were introduced in Scotland with the aim of achieving early identificat...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究

    doi:10.1136/bmjopen-2018-022279

    authors: Marincowitz C,Lecky FE,Morris E,Allgar V,Sheldon TA

    更新日期:2018-12-22 00:00:00

  • Cross-sectional study of the provision of interventional oncology services in the UK.

    abstract:OBJECTIVE:To map out the current provision of interventional oncology (IO) services in the UK. DESIGN:Cross-sectional multicentre study. SETTING:All National Health Service (NHS) trusts in England and Scottish, Welsh and Northern Ireland health boards. PARTICIPANTS:Interventional radiology (IR) departments in all NH...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-016631

    authors: Zhong J,Atiiga P,Alcorn DJ,Kay D,Illing R,Breen DJ,Railton N,McCafferty IJ,Haslam PJ,Wah TM

    更新日期:2017-10-22 00:00:00

  • Do doctors in dispensing practices with a financial conflict of interest prescribe more expensive drugs? A cross-sectional analysis of English primary care prescribing data.

    abstract:OBJECTIVES:Approximately one in eight practices in primary care in England are 'dispensing practices' with an in-house dispensary providing medication directly to patients. These practices can generate additional income by negotiating lower prices on higher cost drugs, while being reimbursed at a standard rate. They, t...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-026886

    authors: Goldacre B,Reynolds C,Powell-Smith A,Walker AJ,Yates TA,Croker R,Smeeth L

    更新日期:2019-02-05 00:00:00

  • Prevalence of depression symptoms and its influencing factors among pregnant women in late pregnancy in urban areas of Hengyang City, Hunan Province, China: a cross-sectional study.

    abstract:OBJECTIVES:To evaluate the prevalence of depressive symptoms and its influencing factors in late pregnancy. DESIGN:Cross-sectional study. SETTING:Fourteen community in urban areas of Hengyang City. PARTICIPANTS:The study conducted from July to October 2019, and surveyed 813 women in late pregnancy who lived in urban...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2020-038511

    authors: Yu Y,Zhu X,Xu H,Hu Z,Zhou W,Zheng B,Yin S

    更新日期:2020-09-01 00:00:00

  • Contribution of physician assistants/associates to secondary care: a systematic review.

    abstract:OBJECTIVE:To appraise and synthesise research on the impact of physician assistants/associates (PA) in secondary care, specifically acute internal medicine, care of the elderly, emergency medicine, trauma and orthopaedics, and mental health. DESIGN:Systematic review. SETTING:Electronic databases (Medline, Embase, ASS...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-019573

    authors: Halter M,Wheeler C,Pelone F,Gage H,de Lusignan S,Parle J,Grant R,Gabe J,Nice L,Drennan VM

    更新日期:2018-06-19 00:00:00

  • OPTIMUM: a protocol for a multicentre randomised controlled trial comparing Out Patient Talc slurry via Indwelling pleural catheter for Malignant pleural effusion vs Usual inpatient Management.

    abstract:INTRODUCTION:The development of malignant pleural effusion (MPE) results in disabling breathlessness, pain and reduced physical capability with treatment a palliative strategy. Ambulatory management of MPE has the potential to improve quality of life (QoL). The OPTIMUM trial is designed to determine whether full outpat...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1136/bmjopen-2016-012795

    authors: Sivakumar P,Douiri A,West A,Rao D,Warwick G,Chen T,Ahmed L

    更新日期:2016-10-18 00:00:00

  • Hand exercises for patients with rheumatoid arthritis: an extended follow-up of the SARAH randomised controlled trial.

    abstract:OBJECTIVES:The Stretching And strengthening for Rheumatoid Arthritis of the Hand (SARAH) randomised controlled trial evaluated the effectiveness of a hand exercise programme and demonstrated it was clinically effective and cost-effective at 12 months. The aim of this extended follow-up was to evaluate the effects of th...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究

    doi:10.1136/bmjopen-2016-013121

    authors: Williamson E,McConkey C,Heine P,Dosanjh S,Williams M,Lamb SE

    更新日期:2017-04-12 00:00:00

  • Subarachnoid haemorrhage guidelines and clinical practice: a cross-sectional study of emergency department consultants' and neurospecialists' views and risk tolerances.

    abstract:OBJECTIVES:To establish if emergency medicine and neuroscience specialist consultants have different risk tolerances for investigation of suspected spontaneous subarachnoid haemorrhage (SAH), and to establish if their risk-benefit appraisals concur with current guidelines. SETTING:4 major neuroscience centres in Londo...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2016-012357

    authors: Lansley J,Selai C,Krishnan AS,Lobotesis K,Jäger HR

    更新日期:2016-09-15 00:00:00

  • Digital and online symptom checkers and health assessment/triage services for urgent health problems: systematic review.

    abstract:OBJECTIVES:In England, the NHS111 service provides assessment and triage by telephone for urgent health problems. A digital version of this service has recently been introduced. We aimed to systematically review the evidence on digital and online symptom checkers and similar services. DESIGN:Systematic review. DATA S...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-027743

    authors: Chambers D,Cantrell AJ,Johnson M,Preston L,Baxter SK,Booth A,Turner J

    更新日期:2019-08-01 00:00:00

  • Proactive community case management and child survival: protocol for a cluster randomised controlled trial.

    abstract:INTRODUCTION:Community health workers (CHWs)-shown to improve access to care and reduce maternal, newborn, and child morbidity and mortality-are re-emerging as a key strategy to achieve health-related Sustainable Development Goals (SDGs). However, recent evaluations of national programmes for CHW-led integrated communi...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1136/bmjopen-2018-027487

    authors: Whidden C,Treleaven E,Liu J,Padian N,Poudiougou B,Bautista-Arredondo S,Fay MP,Samaké S,Cissé AB,Diakité D,Keita Y,Johnson AD,Kayentao K

    更新日期:2019-08-26 00:00:00

  • End-of-life cost and its determinants for cancer patients in urban China: a population-based retrospective study.

    abstract:OBJECTIVE:This study aimed to define the end-of-life (EOL) healthcare utilisation and its cost and determinants for cancer patients and to proactively inform related strategies in mainland China. DESIGN:A population-based retrospective study. SETTING AND PARTICIPANTS:Data from 894 cancer patients were collected in ur...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-026309

    authors: Li Z,Pan Z,Zhang L,He R,Jiang S,Xu C,Lu F,Zhang P,Li B

    更新日期:2019-03-20 00:00:00

  • Factors associated with breastfeeding in England: an analysis by primary care trust.

    abstract:OBJECTIVES:To identify the sociodemographic factors associated with variation in area-based breastfeeding in England; to calculate the predicted breastfeeding rates adjusted for sociodemographic variations. DESIGN:Ecological analysis of routine data using random effects logistic regression. SETTING:All 151 primary ca...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2013-002765

    authors: Oakley LL,Renfrew MJ,Kurinczuk JJ,Quigley MA

    更新日期:2013-06-20 00:00:00

  • A cost-effectiveness analysis of an in-hospital clinical pharmacist service.

    abstract::Objective A randomised controlled study performed from 2007 to 2008 showed beneficial effects of a composite clinical pharmacist service as regards a simple health status instrument. The present study aimed to evaluate if the intervention was cost-effective when evaluated in a decision-theoretic model. Design A piggy...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2011-000329

    authors: Wallerstedt SM,Bladh L,Ramsberg J

    更新日期:2012-01-05 00:00:00

  • Association between reduced stillbirth rates in England and regional uptake of accreditation training in customised fetal growth assessment.

    abstract:OBJECTIVE:To assess the effect that accreditation training in fetal growth surveillance and evidence-based protocols had on stillbirth rates in England and Wales. DESIGN:Analysis of mortality data from Office of National Statistics. SETTING:England and Wales, including three National Health Service (NHS) regions (Wes...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2013-003942

    authors: Gardosi J,Giddings S,Clifford S,Wood L,Francis A

    更新日期:2013-12-17 00:00:00

  • Do emissions from landfill fires affect pregnancy outcomes? A retrospective study after arson at a solid waste facility in Sicily.

    abstract:OBJECTIVES:In response to public health concern about effects of arson at solid waste management plants in July 2012, we analysed vital statistics data to evaluate any potential effect on pregnancies at different gestational ages of pollutants emitted from the landfill on fire. SETTING:A community living near the larg...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-027912

    authors: Mazzucco W,Tavormina E,Macaluso M,Marotta C,Cusimano R,Alba D,Costantino C,Grammauta R,Cernigliaro A,Scondotto S,Vitale F

    更新日期:2019-07-04 00:00:00

  • Increased homocysteine levels in valproate-treated patients with epilepsy: a meta-analysis.

    abstract:OBJECTIVE:To determine whether valproate (VPA) monotherapy influences homocysteine metabolism in patients with epilepsy. DESIGN:Systematic review and meta-analysis. DATA SOURCES:We searched all articles in English through PubMed, Web of Science and EMBASE published up to August 2013 concerning the homocysteine levels...

    journal_title:BMJ open

    pub_type: 杂志文章,meta分析,评审

    doi:10.1136/bmjopen-2014-004936

    authors: Ni G,Qin J,Fang Z,Chen Y,Chen Z,Zhou J,Zhou L

    更新日期:2014-07-16 00:00:00

  • Global research trends in spinal ultrasound: a systematic bibliometric analysis.

    abstract:BACKGROUND:In recent years, there has been increased interest in the use of ultrasound technology in the evaluation of spinal and paraspinal regions. OBJECTIVE:This study aimed to investigate trends in spinal ultrasound research from 1994 to 2015 and compare the contributions of such research from different countries ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2016-015317

    authors: Zhai X,Cui J,Shao J,Wang Q,Chen X,Wei X,Zhou X,Chen Z,Bai Y,Li M

    更新日期:2017-10-22 00:00:00

  • Study protocol for a multicentre, controlled non-randomised trial: benefits of exercise physiology services for type 2 diabetes (BEST).

    abstract:INTRODUCTION:Controlled trials support the efficacy of exercise as a treatment modality for chronic conditions, yet effectiveness of real-world Exercise Physiology services is yet to be determined. This study will investigate the efficacy and cost-effectiveness of services provided by Accredited Exercise Physiologists ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-027610

    authors: Kitic CM,Selig S,Davison K,Best TLB,Parmenter B,Pumpa K,Furzer B,Rice V,Hardcastle S,Cheney M,Palmer AJ,Fraser S,Williams AD

    更新日期:2019-08-21 00:00:00