Keywords: Alzheimer's disease; Cholesterol; SREBF2; Genetics; eQTL;
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Keywords: Asthma; tight junction; innate immunity; cytokine; homeostasis; AhR; Aryl hydrocarbon receptor; AJ; Adherens junction; BHR; Bronchial hyperresponsiveness; CDHR3; Cadherin-related family member 3; DC; Dendritic cell; DUOX1; Dual oxidase 1; EGFR; Epidermal
Keywords: ATGs; Autophagy-related genes; HR; Hazard ratios; CI; Confidence intervals; eQTL; Expression quantitative trait loci; meQTL; Methylation quantitative trait loci; TCGA; The Cancer Genome Atlas; GTEx; Genotype-Tissue Expression; RSEM; RNA-Seq by Expectation
Keywords: Baseline startle; Endophenotypes; eQTL; GWAS; Heritability; Prepulse inhibition;
Keywords: B6; C57BL/6J; D2; DBA/2; PCR; polymerase chain reaction; cDNA; DNA complementary to RNA; cis-eQTL; cis-acting quantitative trait locus; eQTL; expression quantitative trait locus; TNF; tumor necrosis factor; RI; recombinant inbred; CUMS; Chronic Unpredicta
Keywords: electrocardiogram; genetic association study; heart failure; left ventricular hypertrophy; QRS; DHS; deoxyribonuclease hypersensitivity sites; ECG; electrocardiogram; eQTL; expression quantitative trait locus; GWAS; genome-wide association study; LD; link
Keywords: CCD; carotenoid cleavage dioxygenase; CGH; comparative genome hybridization; CNV; copy number variant/variation; CWR; crop wild relative; eQTL; expression quantitative trait locus; InDels; insertions/deletions; LD; linkage disequilibrium; mGWAS; metabolic
Keywords: Genetics; Risk Factors; SNP; GWAS; ARIC; Atherosclerosis Risk in Communities Study; BioVU; Vanderbilt DNA Biobank; BMI; body mass index; CI; confidence intervals; eSNP; expression single-nucleotide polymorphism; eQTL; expression quantitative trait loci; F
Keywords: Epidemiology; Single Nucleotide Polymorphisms; Colon Cancer; eQTL; CRC; colorectal cancer; CYP17A1; cytochrome P450, family 17, subfamily A, polypeptide 1; EIF3H; eukaryotic translation initiation factor 3, subunit H; eQTL; expression quantitative trait l
Keywords: Functional mechanism; Integrative analysis; eQTL; Type 2 diabetes; SNP;
Keywords: Genome-wide association study; atopic dermatitis; allergic sensitization; IgE; severity; children; AD; Atopic dermatitis; eQTL; Expression quantitative trait locus; FLG; Filaggrin gene; GWAS; Genome-wide association study; LD; Linkage disequilibrium; NBAS
Keywords: AMD; age-related macular degeneration; eQTL; expression quantitative trait loci; GWAS; genome-wide association studies; FPKM; Fragments Per Kilobase of gene per Million mapped fragment; MAQC; MicroArray Quality Control; MR; macular retina; PLIER; Probe Lo
Keywords: Asthma; bone mineral density; child; corticosteroids; APPL1; Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1; BMA; Bone mineral accretion; BMD; Bone mineral density; CAMP; Childhood Asthma Management Program; eQTL;
Keywords: Chemometrics; Genetic epidemiology; Genome-wide association studies; Multivariate data; Multivariate regression technique; Partial least squares; Principal-component regression; Ridge regression; Single-nucleotide polymorphism; Statistical genetics; ASCA;
Keywords: Systems biology; High throughput genomics; Gene regulatory network; Retinal degeneration; Macular degeneration; Photoreceptor; Inherited blindness; Network medicine; Whole exome sequencing; RNA-seq; ChIP-seq; eQTL; Pathway-based drug discovery; Personaliz
Keywords: IBD; Genetic Risk; SNP; Clinical Outcome; B1; inflammatory behavior; B2; stricturing behavior; B3; penetrating behavior; CD; Crohn's disease; CDC; complicated disease course; CI; confidence interval; eQTL; expression quantitative trait loci; GWAS; genom
Keywords: Systems genetics; eQTL; Co-expression network; Genotype-phenotype;
Keywords: AF; atrial fibrillation; eQTL; expression quantitative trait loci; FDR; false discovery rate; GWAS; genome-wide association studies; LA; left atrium; MAGNet; Myocardial Applied Genomics Network; RA; right atrium; SNP; single nucleotide polymorphism; Genet
Keywords: Atopic dermatitis; direct RNA sequencing; eczema; filaggrin; gene expression; single molecule; skin; tissue; transcriptome; AD; Atopic dermatitis; CILP; Cartilage intermediate layer protein gene; DRS; Direct RNA sequencing; eQTL; Expression quantitative t
Keywords: ADAR; adenosine deaminase, RNA-specific; AI; allelic imbalance; CEPH; Centre d'Etude du Polymorphisme Humain; eQTL; expression quantitative trait loci; MAE; monoallelic expression; SNP; single nucleotide polymorphism; Single nucleotide polymorphism (SNP);
Functional Polymorphisms at ERCC1/XPF Genes Confer Neuroblastoma Risk in Chinese Children
Keywords: Neuroblastoma; Susceptibility; ERCC1; XPF; Polymorphism; GWAS; genome-wide association study; SNP; single nucleotide polymorphism; NER; nucleotide excision repair; HWE; Hardy-Weinberg equilibrium; OR; odds ratio; CI; confidence interval; eQTL; expression
The interaction of NOS1AP, DISC1, DAOA, and GSK3B confers susceptibility of early-onset schizophrenia in Chinese Han population
Keywords: NMDAR; N-methyl-Daspartate receptor; NOS1AP; nitric oxide synthase 1 adaptor gene; DISC1; disrupted in schizophrenia 1 gene; DAOA; d-amino acid oxidase activator gene; GSK3B; glycogen synthase kinase 3-beta gene; SCZ; Schizophrenia; EOS; early-onset schiz
Deep sequencing of a QTL-rich region spanning 128-136Mbp of pig chromosome 15
Keywords: eQTL; expression quantitative trait loci; EDTA; ethylenediaminetetraacetic acid; GEBV; genomic estimated breeding value; GWAS; genome-wide association study IMF - intramuscular fat; INDEL; insertion or the deletion of bases in the DNA of an organism; lncR
C-src tyrosine kinase gene rs1378942 polymorphism and hypertension in Asians: Review and meta-analysis
Keywords: CSK; c-src tyrosine kinase; SBP; systolic blood pressure; DBP; diastolic blood pressure; 95%CI; 95% confidence interval; GWAS; genome wide association study; SNP; single nucleotide polymorphisms; PRISMA; the Preferred Reporting Items for Systematic Review
Integrative expression quantitative trait locus-based analysis of colorectal cancer identified a functional polymorphism regulating SLC22A5 expression
Keywords: Colorectal cancer; SLC22A5; eQTL; Genetic variants;
Comprehensive genetic study of fatty acids helps explain the role of noncoding inflammatory bowel disease associated SNPs and fatty acid metabolism in disease pathogenesis
Keywords: CD; Crohn's disease; DGLA; Dihomo-gamma linolenic acid; DHA; Docosahexaenoic acid; DPA; Docosapentaenoic acid; eQTL; Expression quantitative trait locus; FA; Fatty acids; FAME; Fatty acid methyl ester; FID; Flame ion detection; GC; Gas chromatography; GWA
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus
Keywords: RA; Genome-wide association; methQTL; eQTL; Long non-coding RNA; T cell;
Integrative analysis identified mediation effects of lncRNAs on the correlations between methylation and mRNA
Keywords: lncRNA; DNA methylation; mRNA; Expression; eQTL; Causal inference test; Mediation; Integrative analysis; Regulatory; PBMC;
The rs2609255 polymorphism in the FAM13A gene is reproducibly associated with silicosis susceptibility in a Chinese population
Keywords: GWAS; genome-wide association studies; NGS; next-generation sequencing; SNPs; single nucleotide polymorphisms; IIPs; idiopathic interstitial pneumonias; FAM13A; family with sequence similarity 13, member A; IPF; idiopathic pulmonary fibrosis; COPD; chroni
The HACD4 haplotype as a risk factor for atherosclerosis in males
Keywords: CP; carotid plaque; CAD; coronary artery disease; PCR; polymerase chain reaction; MI; myocardial infarction; Athsq1; atherosclerosis susceptibility gene locus 1; PTPLAD2; protein tyrosine phosphatase-like A domain-containing protein; HACD4; 3-hydroxyacyl-
Genetic variants in ALDH2 predict risk of ischemic stroke in a Chinese population
Keywords: GWAS; genome wide association studies; SNP; single nucleotide polymorphism; ALDH2; aldehyde dehydrogenase 2; NSRP; Nanjing Stroke Registry Program; TOAST; Trial of Org 10172 in Acute Stroke Treatment; mRS; modified Rankin Scale; OR; Odds ratios; CI; confi
Genetic variant repressing ADH1A expression confers susceptibility to esophageal squamous-cell carcinoma
Keywords: Esophageal cancer; Polymorphism; eQTL; Alcohol drink;
Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions
Keywords: BMD; bone mineral density; GWAS; genome-wide association studies; eQTL; expression quantitative trait loci; SMR; summary data-based Mendelian randomization; HEIDI; heterogeneity in dependent instruments; LD; linkage disequilibrium; WGCNA; weighted gene co
An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk
Keywords: Late-onset Alzheimer's disease; 19q13.32; APOE; eQTL; Tau level;
Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease
Keywords: Inflammatory Bowel Disease; Candidate Gene Approach; Mendelian Disorder; Complex Trait; CD; Crohn's disease; ELISA; enzyme-linked immunosorbent assay; eQTL; expression quantitative trait loci; GWAS; genome-wide association study; HTS; high-throughput seq
Role of the IL-12/IL-35 balance in patients with Sjögren syndrome
Keywords: IL-35; IL-12; regulatory T cell; regulatory B cell; Sjögren syndrome; AIM; Ancestry informative marker; ASSESS; Atteinte Systémique et Evolution des patients atteints de Syndrome de Sjögren primitive; BAFF; B cell-activating factor of the TNF family;
Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy
Keywords: Peanut allergy; food allergy; genome-wide association study; meta-analysis; EMSY; C11orf30; epigenetics; ANGPT4; Angiopoietin 4; ARHGAP24; Rho GTPase-activating protein 24; CanPAR; Canadian Peanut Allergy Registry; CFA; Chicago Food Allergy; CHCHD3; Coi
A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle
Keywords: Wheezing; genome-wide association study; immune cells; lung cells; ORMDL3; GSDMB; PGAP3; GSDMA; gene expression; ASMC; Airway smooth muscle cell; BEC; Bronchial epithelial cell; CEU; Utah residents with Northern and Western European ancestry from the CEPH
Potential effect on molecular pathways in different targeted genes in the VEGF family in retina - From the genomic point of view
Keywords: Expression; Gene network; Expression quantitative trait loci; Recombinant inbred; Vascular endothelial growth factor; AMD; age-related macular degeneration; BXD; C57BL/6J X DBA/2J; CNV; choroidal neovascularization; DME; diabetic macular edema; DR; diabet
A variant on chromosome 2p13.3 is associated with atopic dermatitis in Chinese Han population
Keywords: AD; atopic dermatitis; GWAS; genome-wide association study; EAGLE; EArly Genetics and Lifecourse Epidemiology; eQTL; expression quantitative trait loci; GTEx; Genotype-Tissue Expression; LCs; Langerhans cells; Atopic dermatitis; Single-nucleotide polymorp
The R-package GenomicTools for multifactor dimensionality reduction and the analysis of (exploratory) Quantitative Trait Loci
Keywords: eQTL; QTL; MDR; R-package;
QTL mapping of stress related gene expression in a cross between domesticated chickens and ancestral red junglefowl
Keywords: Animal domestication; Stress response; HPA axis; QTL; eQTL;
Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging
Keywords: BG6; Beagley-Gibson six-point rating system; eQTL; expression quantitative trait locus; GWAS; genome-wide association study; LD; linkage disequilibrium; QC; quality control; SL; solar lentigines; SNP; single-nucleotide polymorphism; TEST; Twins Eyes Study
Type-2 diabetes-associated variants with cross-trait relevance: Post-GWAs strategies for biological function interpretation
Keywords: T2D; type 2 diabetes; GWA; Genome-wide association; LD; Linkage disequilibrium; eQTL; Expression quantitative trait locus; SNP; Single nucleotide polymorphism; LDL; low-density lipoprotein cholesterol; TG; Triglycerides; TC; Total cholesterol, and HDL, hi
A Gene Module-Based eQTL Analysis Prioritizing Disease Genes and Pathways in Kidney Cancer
Keywords: RCC; Renal cell cancer; ccRCC; Clear cell renal cell carcinoma; eQTL; Expression quantitative trait loci; SVM; Support vector machine; TCGA; The Cancer Genome Atlas; KEGG; Kyoto Encyclopedia of Genes and Genomes; DEG; Differentially expressed gene; DGM; D
Featured ArticleA candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression
Keywords: Alzheimer's disease; eQTL; TREM2; TREML1; Regulatory variant;
Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma
Keywords: BMI; body mass index; CGI; CpG island; DMP; differentially methylated position; DMR; differentially methylated region; eQTL; expression quantitative loci; EWAS; epigenome-wide association study; FDR; false discovery rate; GWAS; genome-wide association stu
Transcribing β-cell mitochondria in health and disease
Keywords: β-Cell; Mitochondria; Islets; Genome-wide association study (GWAS); Insulin secretion; Expression quantitative trait locus (eQTL); ATGL; adipocyte triglyceride lipase; AMPK; AMP-dependent protein kinase; COX; Cytochrome c oxidase; CYTB; Cytochrome b; ERR
The allostatic impact of chronic ethanol on gene expression: A genetic analysis of chronic intermittent ethanol treatment in the BXD cohort
Keywords: Chronic intermittent ethanol; Bioinformatics; Genomics; AUD; alcohol use disorder; BXD; B6 and D2 recombinant inbred strains; CIE; chronic intermittent ethanol; PFC; prefrontal cortex; NAC; nucleus accumbens; eQTL; expression quantitative trait locus; CNS
Pathway analysis of complex diseases for GWAS, extending to consider rare variants, multi-omics and interactions
Keywords: ARTP; adaptive rank truncated product; BMI; body mass index; (r)BEE; (robust) brain-expressed enhancer; CNV; copy number variation; eQTL; expression quantitative trait locus; ESI-MS/MS; electrospray ionization mass spectrometry; eSNP; expression single-nu