Quantitative Trait Loci

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  Subject Areas on Research

  • 3D phenotyping and quantitative trait locus mapping identify core regions of the rice genome controlling root architecture. 
  • A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 
  • A Segregating Inversion Generates Fitness Variation in Yellow Monkeyflower (Mimulus guttatus). 
  • A gain-of-function polymorphism controlling complex traits and fitness in nature. 
  • A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes. 
  • A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic. 
  • A global reference for human genetic variation. 
  • A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke. 
  • A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. 
  • A novel genetic locus modulates infarct volume independently of the extent of collateral circulation. 
  • A pharmacogenetic study of aldehyde oxidase I in patients treated with XK469. 
  • A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia. 
  • A simple genetic incompatibility causes hybrid male sterility in mimulus. 
  • A simple method for computing exact probabilities of mutation numbers. 
  • A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype. 
  • Adjusting for covariates on a slippery slope: linkage analysis of change over time. 
  • Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. 
  • An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. 
  • An international collaborative family-based whole-genome linkage scan for high-grade myopia. 
  • Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. 
  • Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. 
  • Applications of a rat multiple tissue gene expression data set. 
  • Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 
  • Association test for X-linked QTL in family-based designs. 
  • Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs. 
  • Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population. 
  • Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics. 
  • Beyond QTL cloning. 
  • Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer. 
  • Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans. 
  • Car8 dorsal root ganglion expression and genetic regulation of analgesic responses are associated with a cis-eQTL in mice. 
  • Characterizing genetic and environmental influences on variable DNA methylation using monozygotic and dizygotic twins. 
  • Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer. 
  • Clinical and genetic correlates of growth differentiation factor 15 in the community. 
  • Collagen-related genes influence the glaucoma risk factor, central corneal thickness. 
  • Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. 
  • Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. 
  • Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. 
  • Complex genetic interactions in a quantitative trait locus. 
  • Complex-trait analysis in plants. 
  • Comprehensive functional genomic resource and integrative model for the human brain. 
  • Connecting genetic risk to disease end points through the human blood plasma proteome. 
  • Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 
  • DNase I sensitivity QTLs are a major determinant of human expression variation. 
  • Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. 
  • Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 
  • Dissecting the regulatory architecture of gene expression QTLs. 
  • Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction. 
  • Ecological genomics of Boechera stricta: identification of a QTL controlling the allocation of methionine- vs branched-chain amino acid-derived glucosinolates and levels of insect herbivory. 
  • Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. 
  • Effects of covariates: a summary of Group 5 contributions. 
  • Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal. 
  • EndoU is a novel regulator of AICD during peripheral B cell selection. 
  • Epistasis and balanced polymorphism influencing complex trait variation. 
  • Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia. 
  • Evolutionary dynamics of an Arabidopsis insect resistance quantitative trait locus. 
  • Exploiting expression patterns across multiple tissues to map expression quantitative trait loci. 
  • Expression quantitative trait locus analysis identifies novel genes for statin myopathy. 
  • Five anthocyanin polymorphisms are associated with an R2R3-MYB cluster in Mimulus guttatus (Phrymaceae). 
  • From genotype to phenotype: systems biology meets natural variation. 
  • From lab to field, new approaches to phenotyping root system architecture. 
  • Functional genetic screen of human diversity reveals that a methionine salvage enzyme regulates inflammatory cell death. 
  • Gene-trait similarity regression for multimarker-based association analysis. 
  • Generalized admixture mapping for complex traits. 
  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. 
  • Genetic analysis of susceptibility to Chlamydia trachomatis in mouse. 
  • Genetic and physiological basis of adaptive salt tolerance divergence between coastal and inland Mimulus guttatus. 
  • Genetic architecture of plastic methyl jasmonate responses in Arabidopsis thaliana. 
  • Genetic divergence causes parallel evolution of flower color in Chilean Mimulus. 
  • Genetic networks of liver metabolism revealed by integration of metabolic and transcriptional profiling. 
  • Genetic trade-offs and conditional neutrality contribute to local adaptation. 
  • Genetic variants in RORA and DNMT1 associated with cutaneous melanoma survival. 
  • Genetic variants in the PIWI-piRNA pathway gene DCP1A predict melanoma disease-specific survival. 
  • Genetic variants in the platelet-derived growth factor subunit B gene associated with pancreatic cancer risk. 
  • Genetic variants of genes in the Notch signaling pathway predict overall survival of non-small cell lung cancer patients in the PLCO study. 
  • Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice. 
  • Genetics of drought adaptation in Arabidopsis thaliana II. QTL analysis of a new mapping population, KAS-1 x TSU-1. 
  • Genetics of incipient speciation in Drosophila mojavensis. I. Male courtship song, mating success, and genotype x environment interactions. 
  • Genetics of superior growth traits in trees are being mapped but will the faster-growing risk-takers make it in the wild? 
  • Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. 
  • Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. 
  • Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium. 
  • Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. 
  • Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. 
  • Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. 
  • Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. 
  • Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. 
  • Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 
  • Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. 
  • Genome-wide association study of obsessive-compulsive disorder. 
  • Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family. 
  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 
  • Genome-wide significant risk associations for mucinous ovarian carcinoma. 
  • Genomic approaches for understanding the genetics of complex disease. 
  • Gnao1 (G alphaO protein) is a likely genetic contributor to variation in physical dependence on opioids in mice. 
  • High-throughput imaging and analysis of root system architecture in Brachypodium distachyon under differential nutrient availability. 
  • Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. 
  • Identification of genes contributing to the obese yellow Avy phenotype: caloric restriction, genotype, diet x genotype interactions. 
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
  • Identification of major quantitative trait loci underlying floral pollination syndrome divergence in Penstemon. 
  • Identification of quantitative trait loci and a candidate locus for freezing tolerance in controlled and outdoor environments in the overwintering crucifer Boechera stricta. 
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 
  • Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes. 
  • Imaging and analysis platform for automatic phenotyping and trait ranking of plant root systems. 
  • Impact of measurement error on testing genetic association with quantitative traits. 
  • Increased efficiency of case-control association analysis by using allele-sharing and covariate information. 
  • Indirect evolution of hybrid lethality due to linkage with selected locus in Mimulus guttatus. 
  • Inherited variants in regulatory T cell genes and outcome of ovarian cancer. 
  • Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. 
  • Initial sequencing and comparative analysis of the mouse genome. 
  • Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. 
  • Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy. 
  • Interpreting analyses of continuous covariates in affected sibling pair linkage studies. 
  • Intersection tests for single marker QTL analysis can be more powerful than two marker QTL analysis. 
  • Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation. 
  • Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. 
  • Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 
  • Large-scale association analysis identifies new risk loci for coronary artery disease. 
  • Leaf shape evolution has a similar genetic architecture in three edaphic specialists within the Mimulus guttatus species complex. 
  • Leveraging population information in family-based rare variant association analyses of quantitative traits. 
  • Life-history QTLS and natural selection on flowering time in Boechera stricta, a perennial relative of Arabidopsis. 
  • Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. 
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. 
  • Major QTLs for critical photoperiod and vernalization underlie extensive variation in flowering in the Mimulus guttatus species complex. 
  • Mapping eQTL by leveraging multiple tissues and DNA methylation. 
  • Mapping of QTL for resistance against the crucifer specialist herbivore Pieris brassicae in a new Arabidopsis inbred line population, Da(1)-12 x Ei-2. 
  • Mapping of ionomic traits in Mimulus guttatus reveals Mo and Cd QTLs that colocalize with MOT1 homologues. 
  • Mapping of within-species segregation distortion in Drosophila persimilis and hybrid sterility between D. persimilis and D. pseudoobscura. 
  • Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort. 
  • Meta-analysis identifies common variants associated with body mass index in east Asians. 
  • Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. 
  • Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis. 
  • Minor quantitative trait loci underlie floral traits associated with mating system divergence in Mimulus. 
  • Modifier genes and heart failure. 
  • Multi-allelic major effect genes interact with minor effect QTLs to control adaptive color pattern variation in Heliconius erato. 
  • Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. 
  • Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. 
  • Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke. 
  • Natural variation in MAM within and between populations of Arabidopsis lyrata determines glucosinolate phenotype. 
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. 
  • Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer. 
  • Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major quantitative trait nucleotide. 
  • Pain sensitivity and vasopressin analgesia are mediated by a gene-sex-environment interaction. 
  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 
  • Pleiotropic quantitative trait loci contribute to population divergence in traits associated with life-history variation in Mimulus guttatus. 
  • Protective role of the apolipoprotein E2 allele in age-related disease traits and survival: evidence from the Long Life Family Study. 
  • Protein Quantitative Trait Loci Analysis Identifies Genetic Variation in the Innate Immune Regulator TOLLIP in Post-Lung Transplant Primary Graft Dysfunction Risk. 
  • QTL Mapping in Three Rice Populations Uncovers Major Genomic Regions Associated with African Rice Gall Midge Resistance. 
  • QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. 
  • Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent. 
  • Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study. 
  • Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association. 
  • Quantitative trait locus and computational mapping identifies Kcnj9 (GIRK3) as a candidate gene affecting analgesia from multiple drug classes. 
  • Quantitative trait locus mapping reveals regions of the maize genome controlling root system architecture. 
  • RNA-Seq optimization with eQTL gold standards. 
  • Recombination and gene conversion in a 170-kb genomic region of Arabidopsis thaliana. 
  • Regulation of TCR delta and alpha repertoires by local and long-distance control of variable gene segment chromatin structure. 
  • Screening for pain phenotypes: analysis of three congenic mouse strains on a battery of nine nociceptive assays. 
  • Sequential elimination of major-effect contributors identifies additional quantitative trait loci conditioning high-temperature growth in yeast. 
  • Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q. 
  • Signatures of demography and recombination at coding genes in naturally-distributed populations of Arabidopsis lyrata subsp. petraea. 
  • Spatially and temporally varying selection on intrapopulation quantitative trait loci for a life history trade-off in Mimulus guttatus. 
  • Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage. 
  • Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs. 
  • The evolutionary significance of cis-regulatory mutations. 
  • The extent and genetic basis of phenotypic divergence in life history traits in Mimulus guttatus. 
  • The genetic architecture of biofilm formation in a clinical isolate of Saccharomyces cerevisiae. 
  • The genetic architecture of gene expression levels in wild baboons. 
  • The genetic architecture of local adaptation and reproductive isolation in sympatry within the Mimulus guttatus species complex. 
  • The genetic basis of developmental abnormalities in interpopulation hybrids of the moss Ceratodon purpureus. 
  • The genetics of speciation by reinforcement. 
  • The relationship between retinal arteriolar and venular calibers is genetically mediated, and each is associated with risk of cardiovascular disease. 
  • The statistics of bulk segregant analysis using next generation sequencing. 
  • Tissue-specific genetic control of splicing: implications for the study of complex traits. 
  • Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins. 
  • Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. 
  • Understanding rice adaptation to varying agro-ecosystems: trait interactions and quantitative trait loci. 
  • Unifying genetic canalization, genetic constraint, and genotype-by-environment interaction: QTL by genomic background by environment interaction of flowering time in Boechera stricta. 
  • Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. 
  • Virulence attributes and hyphal growth of C. neoformans are quantitative traits and the MATalpha allele enhances filamentation. 
  • Vitamin D receptor gene as a candidate gene for Parkinson disease. 
  • What can patterns of differentiation across plant genomes tell us about adaptation and speciation? 
  • Which evolutionary processes influence natural genetic variation for phenotypic traits? 
  • rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Krangel, Michael S., Mary Bernheim Professor of Immunology, Immunology
  • Li, Yi-Ju, Associate Professor of Biostatistics and Bioinformatics, Biostatistics & Bioinformatics
  • Magwene, Paul Mitaari, Associate Professor of Biology, Biology
  • Mitchell-Olds, Thomas, Newman Ivey White Professor of Biology in Trinity College of Arts and Sciences, Biology
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
  • Wray, Gregory Allan, Professor of Biology, Duke Innovation & Entrepreneurship