New aQTL SNPs for the CYP2D6 identified by a novel mediation analysis of genome-wide SNP arrays, gene expression arrays, and CYP2D6 activity.

Abstract:

BACKGROUND:The genome-wide association studies (GWAS) have been successful during the last few years. A key challenge is that the interpretation of the results is not straightforward, especially for transacting SNPs. Integration of transcriptome data into GWAS may provide clues elucidating the mechanisms by which a genetic variant leads to a disease. METHODS:Here, we developed a novel mediation analysis approach to identify new expression quantitative trait loci (eQTL) driving CYP2D6 activity by combining genotype, gene expression, and enzyme activity data. RESULTS:389,573 and 1,214,416 SNP-transcript-CYP2D6 activity trios are found strongly associated (P < 10⁻⁵, FDR = 16.6% and 11.7%) for two different genotype platforms, namely, Affymetrix and Illumina, respectively. The majority of eQTLs are trans-SNPs. A single polymorphism leads to widespread downstream changes in the expression of distant genes by affecting major regulators or transcription factors (TFs), which would be visible as an eQTL hotspot and can lead to large and consistent biological effects. Overlapped eQTL hotspots with the mediators lead to the discovery of 64 TFs. CONCLUSIONS:Our mediation analysis is a powerful approach in identifying the trans-QTL-phenotype associations. It improves our understanding of the functional genetic variations for the liver metabolism mechanisms.

journal_name

Biomed Res Int

authors

Jiang G,Chakraborty A,Wang Z,Boustani M,Liu Y,Skaar T,Li L

doi

10.1155/2013/493019

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

493019

eissn

2314-6133

issn

2314-6141

journal_volume

2013

pub_type

杂志文章
  • Evolutionary Pattern and Regulation Analysis to Support Why Diversity Functions Existed within PPAR Gene Family Members.

    abstract::Peroxisome proliferators-activated receptor (PPAR) gene family members exhibit distinct patterns of distribution in tissues and differ in functions. The purpose of this study is to investigate the evolutionary impacts on diversity functions of PPAR members and the regulatory differences on gene expression patterns. 63...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2015/613910

    authors: Zhou T,Yan X,Wang G,Liu H,Gan X,Zhang T,Wang J,Li L

    更新日期:2015-01-01 00:00:00

  • Transforaminal Percutaneous Endoscopic Lumbar Decompression by Using Rigid Bendable Burr for Lumbar Lateral Recess Stenosis: Technique and Clinical Outcome.

    abstract:Background:Open laminectomy has been regarded as the standard surgical procedure for lumbar lateral recess stenosis during the last decades. Although percutaneous endoscopic lumbar decompression has led to successful results comparable with open decompression, its application in LSS with is still challenging and techni...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2018/2601232

    authors: Tang S,Jin S,Liao X,Huang K,Luo J,Zhu T

    更新日期:2018-11-26 00:00:00

  • The best choice of treatment for acute colonic diverticulitis with purulent peritonitis is uncertain.

    abstract::Severe stages of acute, colonic diverticulitis can progress into intestinal perforations with peritonitis. In such cases, urgent treatment is needed, and Hartmann's procedure is the standard treatment for cases with fecal peritonitis. Peritoneal lavage may be an alternative to resection for acute diverticulitis with p...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2014/380607

    authors: Hupfeld L,Burcharth J,Pommergaard HC,Rosenberg J

    更新日期:2014-01-01 00:00:00

  • Antipsychotic Drugs Inhibit Platelet Aggregation via P2Y 1 and P2Y 12 Receptors.

    abstract::Antipsychotic drugs (APDs) used to treat clinical psychotic syndromes cause a variety of blood dyscrasias. APDs suppress the aggregation of platelets; however, the underlying mechanism remains unknown. We first analyzed platelet aggregation and clot formation in platelets treated with APDs, risperidone, clozapine, or ...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2016/2532371

    authors: Wu CC,Tsai FM,Chen ML,Wu S,Lee MC,Tsai TC,Wang LK,Wang CH

    更新日期:2016-01-01 00:00:00

  • Identification of Biomarkers to Construct a Competing Endogenous RNA Network and Establishment of a Genomic-Clinicopathologic Nomogram to Predict Survival for Children with Rhabdoid Tumors of the Kidney.

    abstract::Rhabdoid tumor of the kidney (RTK) is a rare and severely malignant tumor occurring in infancy and early childhood, with the overall outcomes remain poor. Neither gene regulatory networks nor biomarkers to predict the prognostic outcomes have been elucidated in RTK. In this study, RNA sequencing data were obtained to ...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2020/5843874

    authors: Wang X,Wu X,Li T,Cui M,Zhu L,Wang G,Guo F

    更新日期:2020-08-26 00:00:00

  • Improved efficacy of transcatheter arterial chemoembolization using warmed miriplatin for hepatocellular carcinoma.

    abstract::The aim of this study was to evaluate the efficacy and safety of transcatheter arterial chemoembolization (TACE) using warmed and nonwarmed miriplatin for hepatocellular carcinoma. Eighty patients (117 nodules), treated between January 2010 and June 2013, were evaluated. Thirty-two and 85 nodules were treated with non...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2014/359296

    authors: Yasui D,Murata S,Onozawa S,Mine T,Ueda T,Sugihara F,Kawamoto C,Uchida E,Kumita S

    更新日期:2014-01-01 00:00:00

  • Biology of Bone Tissue: Structure, Function, and Factors That Influence Bone Cells.

    abstract::Bone tissue is continuously remodeled through the concerted actions of bone cells, which include bone resorption by osteoclasts and bone formation by osteoblasts, whereas osteocytes act as mechanosensors and orchestrators of the bone remodeling process. This process is under the control of local (e.g., growth factors ...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2015/421746

    authors: Florencio-Silva R,Sasso GR,Sasso-Cerri E,Simões MJ,Cerri PS

    更新日期:2015-01-01 00:00:00

  • Variability in myosteatosis and insulin resistance induced by high-fat diet in mouse skeletal muscles.

    abstract::Nutrient overload leads to impaired muscle oxidative capacity and insulin sensitivity. However, comparative analyses of the effects of dietary manipulation on skeletal muscles with different fiber composition are lacking. This study aimed to investigate the selective adaptations in the soleus and tibialis anterior mus...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2014/569623

    authors: Collino M,Mastrocola R,Nigro D,Chiazza F,Aragno M,D'Antona G,Minetto MA

    更新日期:2014-01-01 00:00:00

  • Evaluation of Risk Factors Affecting Substance Use among Tenth-Grade Students.

    abstract:Aim:The aim of this study is to detect the prevalence of substance use among tenth-grade students; their thoughts, attitudes, behaviors, and tendencies towards substance use; and risk factors of substance use in tenth-grade students in general. Methods:This study is descriptive and cross-sectional conducted between Ap...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2018/1407649

    authors: Öztaş D,Kalyon A,Ertuğrul A,Gündoğdu Ç,Balcıoğlu H,Sağlan Y,Bilge U,Karahan S

    更新日期:2018-03-15 00:00:00

  • Sera from Visceral Leishmaniasis Patients Display Oxidative Activity and Affect the TNF-α Production by Macrophages In Vitro.

    abstract::Mammalian protection against leishmanial infection depends on the development of an effective immune response. Zoonotic visceral leishmaniasis (ZVL) patients are usually unable to mount an effective immune response against the parasite and indeed appear to be severely immunosuppressed. This suppression has strong nons...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2017/5861453

    authors: Soares NM,de Souza JN,Leal TF,Reis EAG,Miranda MS,Dos Santos WLC,Teixeira MCA

    更新日期:2017-01-01 00:00:00

  • Corrigendum to "The Epidemiology of Hip Fracture among Subjects with Pyogenic Liver Abscess (PLA): A Nationwide Population-Based Study".

    abstract::[This corrects the article DOI: 10.1155/2020/5901962.]. ...

    journal_title:BioMed research international

    pub_type: 杂志文章,已发布勘误

    doi:10.1155/2020/8401548

    authors: Hsu CC,Ko JY,Lin CL,Hsu HC,Chen HT,Lin CC,Kuo SJ

    更新日期:2020-06-22 00:00:00

  • Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.

    abstract::Early Infantile Epileptic Encephalopathy (known as Ohtahara Syndrome) is one of the most severe and earliest forms of epilepsy, characterized by early seizures onset. It affects newborns and children between two and six years old. Among the genes that have been associated with early infantile epileptic encephalopathy,...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2019/4872101

    authors: Al Mehdi K,Fouad B,Zouhair E,Boutaina B,Yassine N,Chaimaa AEC,Najat S,Hassan R,Rachida R,Abdelhamid B,Halima N

    更新日期:2019-12-17 00:00:00

  • A novel anti-histone H1 monoclonal antibody, SSV monoclonal antibody, improves lung injury and survival in a mouse model of lipopolysaccharide-induced sepsis-like syndrome.

    abstract:BACKGROUND:Histones play important roles in both host defenses and inflammation related to microbial infection. A peptide mimotope (SSV) was identified from a novel histone H1 monoclonal antibody (16G9 mAb) that was shown to inhibit the mixed lymphocyte reaction. In the present study, an anti-SSV producing hybridoma wa...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2015/491649

    authors: Kusano T,Chiang KC,Inomata M,Shimada Y,Ohmori N,Goto T,Sato S,Goto S,Nakano T,Kawamoto S,Takaoka Y,Shiraishi N,Noguchi T,Kitano S

    更新日期:2015-01-01 00:00:00

  • Advanced extrauterine pregnancy at 33 weeks with a healthy newborn.

    abstract::Abdominal pregnancy is a very rare form of ectopic pregnancy, associated with high morbidity and mortality for both fetus and mother. It is, and often, seen in poor resource nations, where early diagnosis is often a major challenge due to poor prenatal care and lack of medical resources. An advanced abdominal pregnanc...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2014/102479

    authors: Dabiri T,Marroquin GA,Bendek B,Agamasu E,Mikhail M

    更新日期:2014-01-01 00:00:00

  • The establishment of metabolic syndrome model by induction of fructose drinking water in male Wistar rats.

    abstract:BACKGROUND:Metabolic syndrome can be caused by modification of diet by means of consumption of high carbohydrate and high fat diet such as fructose. AIMS:To develop a metabolic syndrome rat model by induction of fructose drinking water (FDW) in male Wistar rats. METHODS:Eighteen male Wistar rats were fed with FDW 20%...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2014/263897

    authors: Mamikutty N,Thent ZC,Sapri SR,Sahruddin NN,Mohd Yusof MR,Haji Suhaimi F

    更新日期:2014-01-01 00:00:00

  • A Brief Review on the Neuroprotective Mechanisms of Vitexin.

    abstract::The neural dysfunction is triggered by cellular and molecular events that provoke neurotoxicity and neural death. Currently, neurodegenerative diseases are increasingly common, and available treatments are focused on relieving symptoms. Based on the above, in this review we describe the participation of vitexin in the...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2018/4785089

    authors: Lima LKF,Pereira SKS,Junior RDSS,Santos FPDS,Nascimento AS,Feitosa CM,Figuerêdo JS,Cavalcante ADN,Araújo ECDC,Rai M

    更新日期:2018-12-05 00:00:00

  • Novel insights on nutrient management of sarcopenia in elderly.

    abstract::Sarcopenia is defined as a syndrome characterized by progressive and generalized loss of muscle mass and strength. The more rationale approach to delay the progression of sarcopenia is based on the combination of proper nutrition, possibly associated with the use of dietary supplements and a regular exercise program. ...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2015/524948

    authors: Rondanelli M,Faliva M,Monteferrario F,Peroni G,Repaci E,Allieri F,Perna S

    更新日期:2015-01-01 00:00:00

  • Bone-Healing Capacity of PCL/PLGA/Duck Beak Scaffold in Critical Bone Defects in a Rabbit Model.

    abstract::Bone defects are repaired using either natural or synthetic bone grafts. Poly(ϵ-caprolactone) (PCL), β-tricalcium phosphate (TCP), and poly(lactic-co-glycolic acid) (PLGA) are widely used as synthetic materials for tissue engineering. This study aimed to investigate the bone-healing capacity of PCL/PLGA/duck beak scaf...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2016/2136215

    authors: Lee JY,Son SJ,Son JS,Kang SS,Choi SH

    更新日期:2016-01-01 00:00:00

  • Mitochondrial Dysfunction and Autophagy in Hepatic Ischemia/Reperfusion Injury.

    abstract::Ischemia/reperfusion (I/R) injury remains a major complication of liver resection, transplantation, and hemorrhagic shock. Although the mechanisms that contribute to hepatic I/R are complex and diverse involving the interaction of cell injury in hepatocytes, immune cells, and endothelium, mitochondrial dysfunction is ...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2015/183469

    authors: Go KL,Lee S,Zendejas I,Behrns KE,Kim JS

    更新日期:2015-01-01 00:00:00

  • A Review of NEPA, a Novel Fixed Antiemetic Combination with the Potential for Enhancing Guideline Adherence and Improving Control of Chemotherapy-Induced Nausea and Vomiting.

    abstract::Combination antiemetic regimens targeting multiple molecular pathways associated with emesis have become the standard of care for prevention of chemotherapy-induced nausea and vomiting (CINV) related to highly and moderately emetogenic chemotherapies. Antiemetic consensus guidelines from several professional societies...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2015/651879

    authors: Hesketh PJ,Aapro M,Jordan K,Schwartzberg L,Bosnjak S,Rugo H

    更新日期:2015-01-01 00:00:00

  • Pharmacokinetics and Bioavailability Study of Monocrotaline in Mouse Blood by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry.

    abstract:Background and Aims:The present study aimed to develop a simple and sensitive method for quantitative determination of monocrotaline (MCT) in mouse blood employing ultra-performance liquid chromatography-electrospray ionization tandem mass spectrometry (UPLC-ESI/MS/MS) using rhynchophylline as an internal standard. Me...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2018/1578643

    authors: Chen L,Zhang B,Liu J,Fan Z,Weng Z,Geng P,Wang X,Lin G

    更新日期:2018-08-13 00:00:00

  • Assessment of the Relationship between Y-Balance Test and Stabilometric Parameters in Youth Footballers.

    abstract:Objectives:The purpose of the study was to evaluate the correlation between dynamic test results obtained on a stabilometric platform and the results achieved on the Y-balance test (Y-BT). Method:The study group consisted of 52 adolescent athletes, aged 14 to 17 years. Each participant was evaluated in the scope of th...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2020/6968473

    authors: Sikora D,Pałac M,Myśliwiec A,Wolny T,Linek P

    更新日期:2020-11-12 00:00:00

  • Development of microencapsulation delivery system for long-term preservation of probiotics as biotherapeutics agent.

    abstract::The administration of probiotic bacteria for health benefit has rapidly expanded in recent years, with a global market worth $32.6 billion predicted by 2014. The oral administration of most of the probiotics results in the lack of ability to survive in a high proportion of the harsh conditions of acidity and bile conc...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2013/620719

    authors: Solanki HK,Pawar DD,Shah DA,Prajapati VD,Jani GK,Mulla AM,Thakar PM

    更新日期:2013-01-01 00:00:00

  • Association between Sedentary Behaviour and Physical, Cognitive, and Psychosocial Status among Older Adults in Assisted Living.

    abstract:OBJECTIVE:Identification of the factors that influence sedentary behaviour in older adults is important for the design of appropriate intervention strategies. In this study, we determined the prevalence of sedentary behaviour and its association with physical, cognitive, and psychosocial status among older adults resid...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2017/9160504

    authors: Leung PM,Ejupi A,van Schooten KS,Aziz O,Feldman F,Mackey DC,Ashe MC,Robinovitch SN

    更新日期:2017-01-01 00:00:00

  • Resistin Enhances Inflammatory Cytokine Production in Coronary Artery Tissues by Activating the NF-κB Signaling.

    abstract::Purpose. Kawasaki disease (KD) is a systemic vasculitis and is a leading cause of coronary artery lesions (CALs) in childhood. Our previous study has shown higher levels of serum Resistin in KD patients with coronary aneurysm. This study aimed at examining the association of Resistin with inflammatory cytokine express...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2016/3296437

    authors: Gao F,Si F,Feng S,Yi Q,Liu R

    更新日期:2016-01-01 00:00:00

  • Bridging the gap between statistical and biological epistasis in Alzheimer's disease.

    abstract::Alzheimer's disease affects millions of people worldwide and incidence is expected to rise as the population ages, but no effective therapies exist despite decades of research and more than 20 known disease markers. Research has shown that Alzheimer's disease's missing heritability remains extensive with an estimated ...

    journal_title:BioMed research international

    pub_type: 杂志文章,评审

    doi:10.1155/2015/870123

    authors: Ebbert MT,Ridge PG,Kauwe JS

    更新日期:2015-01-01 00:00:00

  • Torsional and Bending Properties of V Taper 2H, ProTaper NEXT, NRT, and One Shape.

    abstract::Nickel-titanium (NiTi) rotary files have enabled efficient root canal preparations that maintain the canal center with fewer aberrations compared to hand files. However, NiTi rotary files are susceptible to fracture, which can thereby compromise root canal treatment. Therefore, NiTi files have been developed to enhanc...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2019/6368958

    authors: Oh S,Kum KY,Cho K,Lee SH,You SH,Go J,Jeon BK,Kim SW,Kim TH,Jang JH,Perinpanayagam H,Kim JW,Chang SW

    更新日期:2019-11-07 00:00:00

  • ADC Benchmark Range for Correct Diagnosis of Primary and Recurrent Middle Ear Cholesteatoma.

    abstract:Objectives:Magnetic resonance imaging (MRI) and in particular diffusion-weighted imaging (DWI) have been broadly proven to be the reference imaging method to discriminate between cholesteatoma and noncholesteatomatous middle ear lesions, especially when high tissue specificity is required. The aim of this study is to d...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2018/7945482

    authors: Russo C,Elefante A,Di Lullo AM,Carotenuto B,D'Amico A,Cavaliere M,Iengo M,Brunetti A

    更新日期:2018-04-24 00:00:00

  • Comparison of three multiple allergen simultaneous tests: RIDA allergy screen, MAST optigen, and polycheck allergy.

    abstract::We compared the performances of 3 Multiple Allergen Simultaneous Test (MAST) assays: RIDA Allergy Screen (R-Biopharm, Darmstadt, Germany), MAST Optigen allergy system (Hitachi Chemical Diagnostics, Mountain View, CA), and Polycheck Allergy (Biocheck GmbH, Munster, Germany). Forty sera that tested positive with the RID...

    journal_title:BioMed research international

    pub_type: 临床试验,杂志文章

    doi:10.1155/2013/340513

    authors: Han M,Shin S,Park H,Park KU,Park MH,Song EY

    更新日期:2013-01-01 00:00:00

  • Integrative effects of feeding Aspergillus awamori and fructooligosaccharide on growth performance and digestibility in broilers: promotion muscle protein metabolism.

    abstract::This study was conducted to show the effect of Aspergillus awamori (AA), fructooligosaccharide (FOS), and combined Aspergillus awamori and fructooligosaccharide (AA + FOS) on growth, digestibility, blood parameters, and expression of some growth-related genes. A total of 60 broiler chicks at the age of 15 d were divid...

    journal_title:BioMed research international

    pub_type: 杂志文章

    doi:10.1155/2014/946859

    authors: Saleh AA,Amber K,El-Magd MA,Atta MS,Mohammed AA,Ragab MM,Abd El-Kader H

    更新日期:2014-01-01 00:00:00