Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case-control association study in a Chinese Han population.

Abstract:

:Genetic etiology hypothesis is widely accepted in the development of congenital scoliosis (CS). The delta-like 3 (DLL3) gene, a member of the Notch signaling pathway, was implicated to contribute to human CS. In this study, a case-control association study was conducted to determine the association of single nucleotide polymorphism (SNP) in the DLL3 gene with CS in a Chinese Han Population. Five known tagging SNPs of the DLL3 gene were genotyped among 270 Chinese Han subjects (128 nonsyndromic CS patients and 142 matched controls). CS patients were divided into 3 types: type I-failure of formation (29 cases), type II-failure of segmentation (50 cases), and type III-mixed defects (49 cases). The 5 SNPs were analyzed by the allelic and genotypic association analysis, genotype-phenotype association analysis, and haplotype analysis. Allele frequencies of 5 tagging SNPs (SNP1: rs1110627, SNP2: rs3212276, SNP3: rs2304223, SNP4: rs2304222, and SNP5: rs2304214) in CS cases and controls were comparable and there were no available inheritance models. The SNPs were not associated with clinical phenotypes. Moreover, the 5 makers in the DLL3 gene were found to be in strong linkage disequilibrium (LD). Both global haplotype and individual haplotype analyses showed that the haplotypes of SNP1/SNP2/SNP3/SNP4/SNP5 did not correlate with the disease (P >0.05). Together, these data suggest that genetic variants of the DLL3 gene are not associated with CS in the Chinese Han population.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Yang Y,Wang BQ,Wu ZH,Zhang HY,Qiu GX,Shen JX,Zhang JG,Zhao Y,Wang YP,Fei Q

doi

10.1097/MD.0000000000004347

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

e4347

issue

30

eissn

0025-7974

issn

1536-5964

pii

00005792-201607260-00056

journal_volume

95

pub_type

杂志文章

相关文献

MEDICINE文献大全
  • Risk factors influencing complications of cardiac implantable electronic device implantation: infection, pneumothorax and heart perforation: a nationwide population-based cohort study.

    abstract::As the number of cardiac implantable electronic devices (CIEDs) is increasing annually, CIED-related complications are becoming increasingly important. The aim of the study was to assess the risks associated with CIEDs by a nationwide database. Patients were selected from the Taiwan National Health Insurance Database....

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000000213

    authors: Lin YS,Hung SP,Chen PR,Yang CH,Wo HT,Chang PC,Wang CC,Chou CC,Wen MS,Chung CM,Chen TH

    更新日期:2014-12-01 00:00:00

  • Effect of different doses of intravenous oxycodone and fentanyl on intubation-related hemodynamic responses: A prospective double-blind randomized controlled trial (CONSORT).

    abstract:BACKGROUND:Intubation using direct laryngoscopy is a risky and painful procedure that is associated with undesirable hemodynamic changes such as tachycardia, hypertension, and arrhythmia. Recently, intravenous oxycodone was introduced and used for the control of acute postoperative pain and to attenuate intubation-rela...

    journal_title:Medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MD.0000000000015509

    authors: Koh GH,Jung KT,So KY,Seo JS,Kim SH

    更新日期:2019-05-01 00:00:00

  • Declining Inconsistent Condom Use but Increasing HIV and Syphilis Prevalence Among Older Male Clients of Female Sex Workers: Analysis From Sentinel Surveillance Sites (2010-2015), Guangxi, China.

    abstract::Clients of female sex workers (CFSWs) are a bridge population for the spread of HIV and syphilis to low or average risk heterosexuals. Most studies have examined the point prevalence of these infections in CFSWs. Limited evidence suggests that older age CFSWs are at a higher risk of acquiring sexually transmitted dise...

    journal_title:Medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1097/MD.0000000000003726

    authors: Chen Y,Abraham Bussell S,Shen Z,Tang Z,Lan G,Zhu Q,Liu W,Tang S,Li R,Huang W,Huang Y,Liang F,Wang L,Shao Y,Ruan Y

    更新日期:2016-05-01 00:00:00

  • Contradictions between DAPT and PRECISE-DAPT scores with the severity of coronary lesion in acute coronary syndrome.

    abstract::This study aimed to identify the correlation of contradiction between DAPT score and PRECISE-DAPT score with the severity of coronary lesion in acute coronary syndromes (ACS).In total, 458 patients with ACS after a percutaneous coronary intervention (PCI) who had tolerated 1-year uneventful dual antiplatelet therapy (...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000019699

    authors: Bi S,Zhao Y,Peng Q,Liu W,Zhang G,Zhang C

    更新日期:2020-04-01 00:00:00

  • The Guillain-Barré syndrome: pulmonary-neurologic correlations.

    abstract::In a retrospective analysis of 40 hospitalized patients with the Guillain-Barré syndrome (GBS), we related the use and outcome of assisted ventilation to specific quantitative details of the neurologic illness. Two patients had an unusually prolonged course: they were ventilated for 374 and 396 days before successful ...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/00005792-198509000-00005

    authors: Sunderrajan EV,Davenport J

    更新日期:1985-09-01 00:00:00

  • No association between abortion and risk of breast cancer among nulliparous women: Evidence from a meta-analysis.

    abstract:BACKGROUND:Various epidemiological studies have demonstrated the association between abortion and risk of breast cancer among nulliparous women; however, results remain inconclusive. This meta-analysis assessed the association based on previous studies. METHODS:PubMed, EMBase, China National Knowledge Infrastructure, ...

    journal_title:Medicine

    pub_type: 杂志文章,meta分析,评审

    doi:10.1097/MD.0000000000020251

    authors: Tong H,Wu Y,Yan Y,Dong Y,Guan X,Liu Y,Lu Z

    更新日期:2020-05-01 00:00:00

  • Management of paradoxical embolism in a patient with coexisting patent foramen ovale and masked pulmonary arteriovenous fistula: A case report.

    abstract:RATIONALE:Paradoxical embolism (PE) is an important cause of cryptogenic stroke, particularly in young patients, which usually have a relation with an unexpected route in circulation. Here we report a rare case of cryptogenic stroke carried 2 uncommon malformations. PATIENT CONCERNS:A 48-year-old female experienced do...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000019507

    authors: Liu XH,Yang JM

    更新日期:2020-04-01 00:00:00

  • MiR-664a-3p expression in patients with obstructive sleep apnea: A potential marker of atherosclerosis.

    abstract::The early prediction of atherosclerosis (AS) is important in the management of obstructive sleep apnea patients (OSA). MicroRNA (miRNA) plays a vital role in the evolution of OSA and AS. Its differential expression may therefore serve as a diagnostic and prognostic biomarker of AS in OSA. The aim of this study was to ...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000009813

    authors: Li K,Chen Z,Qin Y,Wei Y

    更新日期:2018-02-01 00:00:00

  • Ischemic necrosis of bone in systemic lupus erythematosus.

    abstract::Twenty-three patients with systemic lupus erythematosus (SLE) and ischemic bone necrosis are reported. All patients had received corticosteroids prior to the onset of ischemic necrosis, although one patient had received none for 13 years previously. Nineteen (83%) patients had multiple bone lesions including the femor...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/00005792-197605000-00004

    authors: Klipper AR,Stevens MB,Zizic TM,Hungerford DS

    更新日期:1976-05-01 00:00:00

  • Pseudouveitis: a clue to the diagnosis of primary central nervous system lymphoma in immunocompetent patients.

    abstract::Primary oculocerebral non-Hodgkin lymphoma (NHL) of the immunocompetent patient is associated with significant morbidity and mortality, but early diagnosis and follow-up may improve prognosis. The eye, anatomically and embryologically part of the central nervous system (CNS), can be the primary site of the lymphomatou...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/01.md.0000134850.35118.46

    authors: Park S,Abad S,Tulliez M,Monnet D,Merlat A,Gyan E,Bouscary D,Dreyfus F,Grimaldi D,Dhote R,Rollot F,Kelaïdi C,Nazal EM,Brézin AP,Blanche P

    更新日期:2004-07-01 00:00:00

  • Composite hepatocellular carcinoma and small cell carcinoma with early nodal metastasis: A case report.

    abstract:RATIONALE:Hepatocellular carcinoma (HCC) is known to grow in a mosaic pattern, and it can sometimes be combined with non-hepatocellular cells. Despites the variety of combination, HCC with a significant neuroendocrine carcinoma (NEC) component remains very rare. Most of the reported cases were treated as conventional H...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000007868

    authors: Liu YJ,Ng KF,Huang SC,Wu RC,Chen TC

    更新日期:2017-08-01 00:00:00

  • Microhardness distribution of the tibial diaphysis and test site selection for reference point indentation technique.

    abstract::Indentation hardness test is a good in vitro method of bone quality assessment. The purpose of this study is to explore the distribution characteristics of bone tissue microhardness in tibial diaphysis and provide theoretical support for the test site selection of the reference point indentation technique.Three fresh ...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000016523

    authors: Wang J,Yin B,Liu G,Li S,Zhang X,Hu Z,Wu W,Zhang Y

    更新日期:2019-07-01 00:00:00

  • Impact of supraglottic device with assist ventilation under general anesthesia combined with nerve block in uniportal video-assisted thoracoscopic surgery.

    abstract:BACKGROUND:With the improvement of anesthesia and surgical techniques, supraglottic device with assist ventilation under general anesthesia (GA) combined with nerve block is gradually applied to video-assisted thoracoscopic surgery. However, the safety of assist ventilation has not been fully confirmed, and a large num...

    journal_title:Medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MD.0000000000019240

    authors: Xiang X,Zhou H,Wu Y,Fang J,Lian Y

    更新日期:2020-03-01 00:00:00

  • Effect of acupuncture on in vitro fertilization: An updated systematic review and data mining protocol.

    abstract:BACKGROUND:Although many patients try to seek acupuncture to improve in vitro fertilization (IVF) outcomes, evidence regarding its efficacy and acupoints characters are lacking. The aim of this protocol is to evaluate the effectiveness and safety, as well as the acupoints characteristics of acupuncture in the treatment...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000010998

    authors: Wang X,Lin H,Chen M,Wang J,Jin Y

    更新日期:2018-06-01 00:00:00

  • Use of susceptibility-weighted imaging in assessing ischemic penumbra: A case report.

    abstract:RATIONALE:The ischemic penumbra assessment is essential for the subsequent therapy and prediction of evolution in patients with acute ischemic infraction. Although controversial as a perfect equivalence to penumbra, perfusion-weighted imaging (PWI)-diffusion-weighted imaging (DWI) mismatch may predict the response to t...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000006091

    authors: Wu X,Luo S,Wang Y,Chen Y,Liu J,Bai J,Feng J,Zhang H

    更新日期:2017-02-01 00:00:00

  • Inverted internal limiting membrane flap technique and an autologous platelet concentrate to treat an Nd: YAG laser-induced macular hole: A case report.

    abstract:RATIONALE:Nd:YAG laser-induced macular holes (MHs) feature more extensive anatomical defects and worse functional outcomes than idiopathic MHs. Although new treatment options for large refractory MHs have been suggested, the current literature on Nd:YAG laser-induced MHs suggests only conventional pars plana vitrectomy...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000018185

    authors: Yang YH,Chung YT,Kim BK,Moon JH,Mun SJ

    更新日期:2019-11-01 00:00:00

  • Clinical efficacy of xenon versus propofol: A systematic review and meta-analysis.

    abstract:BACKGROUND:Interest in the anesthetic use of xenon, a noble gas, has waxed and waned for decades, and the clinical effects of xenon are still debated. We performed a meta-analysis to compare the clinical efficacy of xenon with that of propofol. METHODS:Electronic searches were performed through December 2017 using var...

    journal_title:Medicine

    pub_type: 杂志文章,meta分析

    doi:10.1097/MD.0000000000010758

    authors: Xia Y,Fang H,Xu J,Jia C,Tao G,Yu B

    更新日期:2018-05-01 00:00:00

  • Antiretroviral treatment and its impact on oral health outcomes in 5 to 7 year old Ugandan children: A 6 year follow-up visit from the ANRS 12174 randomized trial.

    abstract:BACKGROUND:Antiretroviral therapy for HIV in sub-Saharan Africa has transformed the highly infectious virus to a stable chronic condition, with the advent of Highly active antiretroviral therapy (HAART). The longterm effects of HAART on the oral health of children are understudied. OBJECTIVE:To compare the effect of l...

    journal_title:Medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1097/MD.0000000000022352

    authors: Birungi N,Fadnes LT,Engebretsen IMS,Tumwine JK,Åstrøm AN,for ANRS 12174 AND 12341 study groups.

    更新日期:2020-09-25 00:00:00

  • Non-α-fetoprotein-producing adrenal hepatoid adenocarcinoma: A case report and literature review.

    abstract:RATIONALE:Adrenal hepatoid adenocarcinoma typically secretes alpha-fetoprotein (AFP). Here, we report a case of non-AFP-producing adrenal hepatoid adenocarcinoma. Next-generation sequencing (NGS) was conducted to identify gene mutations. PATIENT CONCERNS:A 64-year-old man presented with mild back pain and unexplained ...

    journal_title:Medicine

    pub_type: 杂志文章,评审

    doi:10.1097/MD.0000000000012336

    authors: Lin J,Cao Y,Yu L,Lin L

    更新日期:2018-09-01 00:00:00

  • Effect of led photobiomodulation on analgesia during labor: Study protocol for a randomized clinical trial.

    abstract:BACKGROUND:Labor pain is one of the most intense pains experienced by women, which leads to an increase in the number of women opting to undergo a cesarean delivery. Pharmacological and nonpharmacological analgesia methods are used to control labor pain. Epidural analgesia is the most commonly used pharmacological anal...

    journal_title:Medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MD.0000000000011120

    authors: Traverzim MADS,Makabe S,Silva DFT,Pavani C,Bussadori SK,Fernandes KSP,Motta LJ

    更新日期:2018-06-01 00:00:00

  • Coexisting myasthenia gravis, myositis, and polyneuropathy induced by ipilimumab and nivolumab in a patient with non-small-cell lung cancer: A case report and literature review.

    abstract:RATIONALE:Immune checkpoint inhibitors have led to the development of new approaches for cancer treatment with positive outcomes. However, checkpoint blockade is associated with a unique spectrum of immune-related adverse events (irAEs), which may cause irreversible neurological deficits and even death. PATIENT CONCER...

    journal_title:Medicine

    pub_type: 杂志文章,评审

    doi:10.1097/MD.0000000000009262

    authors: Chen JH,Lee KY,Hu CJ,Chung CC

    更新日期:2017-12-01 00:00:00

  • Impact of different types of tree nut, peanut, and soy nut consumption on serum C-reactive protein (CRP): A systematic review and meta-analysis of randomized controlled clinical trials.

    abstract:BACKGROUND:The effects of different types of tree nut, peanut, and soy nut consumption on serum C - reactive protein (CRP) are not well established. we aimed to undertake a systematic review and meta-analysis of prospective studies to determine the effect of nut consumption (tree nuts, peanuts, and soy nuts) on serum C...

    journal_title:Medicine

    pub_type: 杂志文章,meta分析,评审

    doi:10.1097/MD.0000000000005165

    authors: Mazidi M,Rezaie P,Ferns GA,Gao HK

    更新日期:2016-11-01 00:00:00

  • D-lactic acidosis. A review of clinical presentation, biochemical features, and pathophysiologic mechanisms.

    abstract::This report describes a case of d-lactic acidosis observed by the authors and then reviews all case reports of d-lactic acidosis in the literature in order to define its clinical and biochemical features and pathogenetic mechanisms. The report also reviews the literature on metabolism of d-lactic acid in humans. The c...

    journal_title:Medicine

    pub_type: 杂志文章,评审

    doi:10.1097/00005792-199803000-00001

    authors: Uribarri J,Oh MS,Carroll HJ

    更新日期:1998-03-01 00:00:00

  • Combined endoscopic submucosal dissection and transanal minimally invasive surgery for the management of lower rectal adenoma extending above the dentate line: A case report.

    abstract:RATIONALE:Minimally invasive surgery is used to treat early colorectal tumors. Endoscopic submucosal dissection (ESD) for resection of tumors extending above the dentate line (particularly those with concomitant hemorrhoids) is technically difficult. We present a case of a patient with a lower rectal adenoma extending ...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000015289

    authors: Nepal P,Mori S,Kita Y,Tanabe K,Baba K,Sasaki F,Nasu Y,Ido A,Uchikado Y,Kurahara H,Arigami T,Sakoda M,Maemura K,Natsugoe S

    更新日期:2019-05-01 00:00:00

  • Waist-hip ratio as a predictor of myocardial infarction risk: A systematic review and meta-analysis.

    abstract:BACKGROUND AND AIM:Several studies have identified that obesity and being overweight can increase the risk of developing myocardial infarction (MI). However, the predictive value of the central obesity index, that is, the waist-hip ratio (WHR), regarding MI risk remains unclear. This study aimed to provide a systematic...

    journal_title:Medicine

    pub_type: 杂志文章,meta分析,评审

    doi:10.1097/MD.0000000000011639

    authors: Cao Q,Yu S,Xiong W,Li Y,Li H,Li J,Li F

    更新日期:2018-07-01 00:00:00

  • Vortioxetine overdose in a suicidal attempt: A case report.

    abstract:RATIONALE:Vortioxetine is a new multimodal antidepressant approved by the Food and Drug Administration for the treatment of Major Depressive Disorder and recently introduced in Europe. While antidepressant properties of vortioxetine and its tolerability have been demonstrated by preclinical and clinical studies data on...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000010788

    authors: Mazza MG,Rossetti A,Botti ER,Clerici M

    更新日期:2018-06-01 00:00:00

  • Effects of positive dispatcher encouragement on the maintenance of bystander cardiopulmonary resuscitation quality.

    abstract:BACKGROUND:Implementation of dispatcher-assisted cardiopulmonary resuscitation (DACPR) has increased the likelihood of bystander CPR upon cardiac arrest. However, the quality of CPR has been found to be very low. In this study, we aimed to compare CPR quality between the current DACPR practices and the interventional i...

    journal_title:Medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MD.0000000000022728

    authors: Hwang BN,Lee EH,Park HA,Park JO,Lee CA

    更新日期:2020-10-16 00:00:00

  • Role of Micro RNAs in the Pathogenesis of Rheumatoid Arthritis: Novel Perspectives Based on Review of the Literature.

    abstract::The contributions of micro RNAs (miRNAs) to rheumatoid arthritis (RA) are beginning to be uncovered during the last decade. Many studies in efforts to use miRNAs as biomarkers in disease diagnosis, prognosis, and treatment are ongoing.We conducted a systematic literature review to reveal the role of miRNAs in the path...

    journal_title:Medicine

    pub_type: 杂志文章,评审

    doi:10.1097/MD.0000000000001326

    authors: Chen XM,Huang QC,Yang SL,Chu YL,Yan YH,Han L,Huang Y,Huang RY

    更新日期:2015-08-01 00:00:00

  • Comparison between abdominal ultrasound and nuclear magnetic resonance imaging detection of placenta accreta in the second and third trimester of pregnancy.

    abstract::This study is to determine accuracy of abdominal ultrasound and nuclear magnetic resonance imaging (MRI) for placenta accreta in the second and third trimester of pregnancy and to define the most relevant features of abdominal ultrasound and MRI for placenta accreta prediction.Between September 2012 and September 2018...

    journal_title:Medicine

    pub_type: 杂志文章

    doi:10.1097/MD.0000000000017908

    authors: Xia H,Ke SC,Qian RR,Lin JG,Li Y,Zhang X

    更新日期:2020-01-01 00:00:00

  • Efficacy and safety of Xiyanping for COVID-2019: A protocol for systematic review and meta-analysis.

    abstract:BACKGROUND:Coronavirus disease 2019 (COVID-19) is a global pandemic caused by the severe acute respiratory syndrome coronavirus-2.COVID-19 is highly pathogenic and infectious. COVID-19 epidemic is still spreading all over the world, and there is no sign of stopping at present. There is no specific cure for this disease...

    journal_title:Medicine

    pub_type: 杂志文章,meta分析

    doi:10.1097/MD.0000000000022962

    authors: Zhou H,Chen D,Zhang Y,Zhu Q,Yang Y,Liu Y,Gong G,Xie C

    更新日期:2020-11-13 00:00:00