Genetic Loci

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  Subject Areas on Research

  • A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 
  • A comprehensive joint analysis of the long and short RNA transcriptomes of human erythrocytes. 
  • A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. 
  • A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. 
  • A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101. 
  • A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. 
  • A genome-wide association study of central corneal thickness in Latinos. 
  • 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 heterozygous IDH1R132H/WT mutation induces genome-wide alterations in DNA methylation. 
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. 
  • A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. 
  • A variant in FTO shows association with melanoma risk not due to BMI. 
  • Admixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) study. 
  • An atlas of genetic influences on human blood metabolites. 
  • Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore? 
  • Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. 
  • Assessing population structure and host specialization in lichenized cyanobacteria. 
  • Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis. 
  • Association of a Novel Mutation in the Plasmodium falciparum Chloroquine Resistance Transporter With Decreased Piperaquine Sensitivity. 
  • Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis. 
  • Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population. 
  • Associations between HLA class I alleles and the prevalence of nasopharyngeal carcinoma (NPC) among Tunisians. 
  • Bimodal quantitative relationships between histone modifications for X-linked and autosomal loci. 
  • Biological, clinical and population relevance of 95 loci for blood lipids. 
  • CASP7 variants modify susceptibility to cervical cancer in Chinese women. 
  • Characterization of the EBV-Induced Persistent DNA Damage Response. 
  • Characterization of the standard and recommended CODIS markers. 
  • Cohesin, CTCF and lymphocyte antigen receptor locus rearrangement. 
  • Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions. 
  • Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. 
  • Conditional knockout of Fgf13 in murine hearts increases arrhythmia susceptibility and reveals novel ion channel modulatory roles. 
  • Consensus multi-locus sequence typing scheme for Cryptococcus neoformans and Cryptococcus gattii. 
  • Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest. 
  • DNase-seq predicts regions of rotational nucleosome stability across diverse human cell types. 
  • Depression in pregnancy, infant birth weight and DNA methylation of imprint regulatory elements. 
  • Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus. 
  • Distinct contracted conformations of the Tcra/Tcrd locus during Tcra and Tcrd recombination. 
  • Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. 
  • Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies. 
  • Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. 
  • Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. 
  • Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci. 
  • Epigenetic instability of cytokine and transcription factor gene loci underlies plasticity of the T helper 17 cell lineage. 
  • European American stratification in ovarian cancer case control data: the utility of genome-wide data for inferring ancestry. 
  • Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. 
  • Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. 
  • Evolution of the sex-related locus and genomic features shared in microsporidia and fungi. 
  • Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 
  • Extension of multifactor dimensionality reduction for identifying multilocus effects in the GAW14 simulated data. 
  • Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. 
  • Functional Annotation Signatures of Disease Susceptibility Loci Improve SNP Association Analysis 
  • Fungal genome and mating system transitions facilitated by chromosomal translocations involving intercentromeric recombination. 
  • GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. 
  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 
  • GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. 
  • Gene targeting to the ROSA26 locus directed by engineered zinc finger nucleases. 
  • Genetic loci associated with delayed clearance of Plasmodium falciparum following artemisinin treatment in Southeast Asia. 
  • Genetic loci for retinal arteriolar microcirculation. 
  • Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. 
  • Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. 
  • Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 
  • Genetics of childhood steroid-sensitive nephrotic syndrome. 
  • Genistein and bisphenol A exposure cause estrogen receptor 1 to bind thousands of sites in a cell type-specific manner. 
  • Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians. 
  • 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-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. 
  • Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. 
  • Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. 
  • Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 
  • Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. 
  • Genome-wide association study and meta-analysis of intraocular pressure. 
  • Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. 
  • Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos. 
  • Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. 
  • Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 
  • Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. 
  • Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. 
  • Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 
  • Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. 
  • Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 
  • Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. 
  • Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. 
  • Genome-wide association study of Parkinson's disease in East Asians. 
  • Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 
  • Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. 
  • Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. 
  • Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family. 
  • Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism. 
  • Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma. 
  • Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. 
  • Highly active zinc-finger nucleases by extended modular assembly. 
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 
  • Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 
  • Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. 
  • Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii. 
  • Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment. 
  • Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. 
  • Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci. 
  • Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 
  • Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study. 
  • Lack of genomic imprinting of DNA primase, polypeptide 2 (PRIM2) in human term placenta and white blood cells. 
  • Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 
  • Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 
  • Linkage of familial essential tremor to chromosome 5q35. 
  • Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions. 
  • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. 
  • Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 
  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 
  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 
  • Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. 
  • Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. 
  • Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 
  • Mistaken Identity: Another Bias in the Use of Relative Genetic Divergence Measures for Detecting Interspecies Introgression. 
  • Molecular and genetic evidence for a tetrapolar mating system in the basidiomycetous yeast Kwoniella mangrovensis and two novel sibling species. 
  • Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. 
  • Multilocus genetic profile for dopamine signaling predicts ventral striatum reactivity. 
  • Multilocus microsatellite genotyping array for investigation of genetic epidemiology of Pneumocystis jirovecii. 
  • Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. 
  • Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. 
  • Mutation accumulation may be a minor force in shaping life history traits. 
  • Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 
  • Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 
  • Mutations in EMP2 cause childhood-onset nephrotic syndrome. 
  • Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 
  • Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. 
  • Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. 
  • New loci and coding variants confer risk for age-related macular degeneration in East Asians. 
  • Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. 
  • Nonobese diabetic congenic strain analysis of autoimmune diabetes reveals genetic complexity of the Idd18 locus and identifies Vav3 as a candidate gene. 
  • Novel Genetic Loci Associated With Retinal Microvascular Diameter. 
  • Novel genetic loci associated with hippocampal volume. 
  • Novel genetic loci underlying human intracranial volume identified through genome-wide association. 
  • Novel loci and pathways significantly associated with longevity. 
  • Novel retrotransposed imprinted locus identified at human 6p25. 
  • Novel strains of mice deficient for the vesicular acetylcholine transporter: insights on transcriptional regulation and control of locomotor behavior. 
  • PSORS2 is due to mutations in CARD14. 
  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 
  • Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus. 
  • Polygenic risk score, genome-wide association, and gene set analyses of cognitive domain deficits in schizophrenia. 
  • Polyteny: still a giant player in chromosome research. 
  • Precise regulation of porcupine activity is required for physiological Wnt signaling. 
  • Quantitative trait locus mapping reveals regions of the maize genome controlling root system architecture. 
  • Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 
  • Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility. 
  • Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci. 
  • Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. 
  • Robust testing of haplotype/disease association. 
  • Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC). 
  • Seven new loci associated with age-related macular degeneration. 
  • Sex in fungi. 
  • Sex in the Mucoralean fungi. 
  • Sex-specific incompatibility generates locus-specific rates of introgression between species. 
  • Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians. 
  • Should Y stay or should Y go: the evolution of non-recombining sex chromosomes. 
  • Speciation on a local geographic scale: the evolution of a rare rock outcrop specialist in Mimulus. 
  • Species delimitation and biogeography of a southern hemisphere liverwort clade, Frullania subgenus Microfrullania (Frullaniaceae, Marchantiophyta). 
  • Specification of Vδ and Vα usage by Tcra/Tcrd locus V gene segment promoters. 
  • Sporadic, Global Linkage Disequilibrium Between Unlinked Segregating Sites. 
  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 
  • Susceptibility Loci for Clinical Coronary Artery Disease and Subclinical Coronary Atherosclerosis Throughout the Life-Course. 
  • Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci. 
  • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. 
  • T-BAS: Tree-Based Alignment Selector toolkit for phylogenetic-based placement, alignment downloads and metadata visualization: an example with the Pezizomycotina tree of life. 
  • Targeted Epigenetic Remodeling of Endogenous Loci by CRISPR/Cas9-Based Transcriptional Activators Directly Converts Fibroblasts to Neuronal Cells. 
  • Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 
  • Temporal Stability of Molecular Diversity Measures in Natural Populations of Drosophila pseudoobscura and Drosophila persimilis. 
  • The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer's disease. 
  • The ciliopathies: a transitional model into systems biology of human genetic disease. 
  • The evolutionary history of ferns inferred from 25 low-copy nuclear genes. 
  • The genetics of POAG in black South Africans: a candidate gene association study. 
  • The genomic consequences of adaptive divergence and reproductive isolation between species of manakins. 
  • The role of EVI1 in myeloid malignancies. 
  • Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 
  • Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. 
  • Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. 
  • Type 2 Diabetes Genetic Variants and Risk of Diabetic Retinopathy. 
  • Uncoupling associations of risk alleles with endophenotypes and phenotypes: insights from the ApoB locus and heart-related traits. 
  • Uncoupling of genomic and epigenetic signals in the maintenance and inheritance of heterochromatin domains in fission yeast. 
  • Unisexual reproduction drives meiotic recombination and phenotypic and karyotypic plasticity in Cryptococcus neoformans. 
  • Unisexual reproduction reverses Muller's ratchet. 
  • Utilizing population controls in rare-variant case-parent association tests. 
  • Variable Extent of Lineage-Specificity and Developmental Stage-Specificity of Cohesin and CCCTC-Binding Factor Binding Within the Immunoglobulin and T Cell Receptor Loci. 
  • rbcL and matK earn two thumbs up as the core DNA barcode for ferns. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
  • Krangel, Michael S., Mary Bernheim Professor of Immunology, Immunology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology