Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

scientific article

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/NG.2882
P698PubMed publication ID24464100
P5875ResearchGate publication ID259918718

P50authorKári StefánssonQ6453246
Torben JørgensenQ7825461
Augustine KongQ28050134
Gudmar ThorleifssonQ28050150
Unnur ÞorsteinsdóttirQ28050158
Valgerdur SteinthorsdottirQ28805350
Torben HansenQ29583803
Oluf Borbye PedersenQ29583849
Niels GrarupQ29710540
Rafn BenediktssonQ29840633
Patrick SulemQ29998686
Daníel F. GuðbjartssonQ30348313
Torsten LauritzenQ30435282
Allan LinnebergQ37392821
Johanne Marie JustesenQ37640260
Marit E. JørgensenQ38219648
Henrik VestergaardQ47502437
Hafdis HelgadottirQ56435892
Gísli MássonQ58761857
Fereidoun AziziQ63695821
Ivan BrandslundQ87944394
Asgeir SigurdssonQ88734369
Annelli SandbaekQ100693264
Cramer ChristensenQ114332574
Astradur B HreidarssonQ114332656
P2093author name stringGunnar Sigurdsson
Agnar Helgason
Hannes Helgason
Sigurjon A Gudjonsson
Hrefna Johannsdottir
Olafur T Magnusson
Mohammad-Sadegh Fallah
Maryam S Daneshpour
Marie N Harder
P2860cites workThe human genome browser at UCSCQ24672361
Statistical aspects of the analysis of data from retrospective studies of diseaseQ27860916
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetesQ28272915
Genetics of gene expression and its effect on diseaseQ29614591
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect PredictorQ29614870
A variant in CDKAL1 influences insulin response and risk of type 2 diabetesQ29614878
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policyQ29617901
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes lociQ30425020
Cyclins D2 and D1 are essential for postnatal pancreatic beta-cell growthQ33758338
Probing the production of amidated peptides following genetic and dietary copper manipulationsQ34110252
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretionQ34319297
The biosynthesis of neuropeptides: peptide alpha-amidationQ34401086
Detection of sharing by descent, long-range phasing and haplotype imputationQ34928818
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.Q36508365
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetesQ36651827
Parental origin of sequence variants associated with complex diseasesQ37102209
Prevention of non-communicable disease in a population in nutrition transition: Tehran Lipid and Glucose Study phase II.Q37130357
A novel endonuclease IV post-PCR genotyping systemQ39117326
Beta cell replication is the primary mechanism for maintaining postnatal beta cell mass.Q40051311
Common variants in WFS1 confer risk of type 2 diabetesQ41852502
MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.Q43806860
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traitsQ44274525
A randomized non-pharmacological intervention study for prevention of ischaemic heart disease: baseline results Inter99.Q44685218
The prevalence and morbidity of sensitization to fragrance mix I in the general population.Q44901444
Deletion of peptide amidation enzymatic activity leads to edema and embryonic lethality in the mouseQ46753570
The gene encoding phosphodiesterase 4D confers risk of ischemic strokeQ48185073
Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolutionQ57278407
The ADDITION study: proposed trial of the cost-effectiveness of an intensive multifactorial intervention on morbidity and mortality among people with Type 2 diabetes detected by screeningQ73152513
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1Q73777239
P433issue3
P407language of work or nameEnglishQ1860
P921main subjecttype 2 diabetesQ3025883
P304page(s)294-298
P577publication date2014-01-26
P1433published inNature GeneticsQ976454
P1476titleIdentification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
P478volume46

Reverse relations

cites work (P2860)
Q3868923610 Years of GWAS Discovery: Biology, Function, and Translation
Q2677587960 YEARS OF POMC: From POMC and α-MSH to PAM, molecular oxygen, copper, and vitamin C
Q48561722A Decade of Genetic and Metabolomic Contributions to Type 2 Diabetes Risk Prediction
Q95723667A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney Injury
Q35761096A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease
Q59128914A hPSC-based platform to discover gene-environment interactions that impact human β-cell and dopamine neuron survival
Q38752732An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Q36367815Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population
Q50971133Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion.
Q35715829Association between SLC30A8 rs13266634 Polymorphism and Type 2 Diabetes Risk: A Meta-Analysis
Q35588251Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population
Q35234550Association of genetic variants with hypertension in a longitudinal population-based genetic epidemiological study
Q91865303Benefits and limitations of genome-wide association studies
Q52364288CC-401 Promotes β-Cell Replication via Pleiotropic Consequences of DYRK1A/B Inhibition.
Q35370064Can genomics help usher schizophrenia into the age of RDoC and DSM-6?
Q92415198Ciliary and cytoskeletal functions of an ancient monooxygenase essential for bioactive amidated peptide synthesis
Q34556382Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
Q38808702Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes
Q35333498Communication is the key. : Part 2 : Direct to consumer genetics in our future daily life ?
Q90836055CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes
Q59401101Deeper, longer phenotyping to accelerate the discovery of the genetic architectures of diseases
Q63916396Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data
Q38816596Diabetes in Population Isolates: Lessons from Greenland
Q47838387Diabetes: Still a geneticist's nightmare
Q37613798Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Q38843404Discovery of rare variants for complex phenotypes.
Q44801223Diverse type 2 diabetes genetic risk factors functionally converge in a phenotype-focused gene network.
Q30353921Early eukaryotic origins for cilia-associated bioactive peptide-amidating activity.
Q47825022Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.
Q38667652Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
Q37423792Epigenetic and genetic components of height regulation
Q36172690Evaluating the Calibration and Power of Three Gene-Based Association Tests of Rare Variants for the X Chromosome
Q64108431Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
Q48477844Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals.
Q30840891Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Q64100517Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach
Q37048022Fast and accurate long-range phasing in a UK Biobank cohort
Q48190008Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population
Q49970697Genetic Approaches to the Study of Gene Variants and Their Impact on the Pathophysiology of Type 2 Diabetes
Q36132996Genetic Effects on Longitudinal Changes from Healthy to Adverse Weight and Metabolic Status – The HUNT Study
Q90746500Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study
Q55272361Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Q98394707Genetic markers and continuity of healthy metabolic status: Tehran cardio-metabolic genetic study (TCGS)
Q38214522Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond
Q33921071Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes
Q26745624Genetics of Insulin Resistance and the Metabolic Syndrome
Q30250281Genetics of Type 2 Diabetes: the Power of Isolated Populations
Q35227765Genetics of type 2 diabetes-pitfalls and possibilities
Q38786129Genome-Wide Studies of Type 2 Diabetes and Lipid Traits in Hispanics
Q50420617Genome-wide analysis yields new loci associating with aortic valve stenosis
Q57417302Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Q36536523Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes
Q92610114Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population
Q36096515Genome-wide association study revealed genomic regions related to white/red earlobe color trait in the Rhode Island Red chickens
Q64118849Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Q62840254Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk
Q63352628Genomic insights into the causes of type 2 diabetes
Q39155009Genomics of Islet (Dys)function and Type 2 Diabetes
Q37649339Glucose Induces Mouse β-Cell Proliferation via IRS2, MTOR, and Cyclin D2 but Not the Insulin Receptor
Q46266920Glutathione S-transferase genes and the risk of type 2 diabetes mellitus: the role of sexual dimorphism, gene-gene and gene-smoking interactions in disease susceptibility.
Q36232888Height-reducing variants and selection for short stature in Sardinia
Q90523207High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes
Q57241781Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes
Q63916423Human Genetics of Obesity and Type 2 Diabetes Mellitus: Past, Present, and Future
Q30234640Human genetics as a model for target validation: finding new therapies for diabetes
Q34242898Identification of a novel gene for diabetic traits in rats, mice, and humans
Q41247286Identification of candidate protective variants for common diseases and evaluation of their protective potential
Q57363737Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population
Q94544800Identifying novel associations in GWAS by hierarchical Bayesian latent variable detection of differentially misclassified phenotypes
Q38705442Improving power for rare-variant tests by integrating external controls
Q36581398Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer
Q28088772Insights from exome sequencing for endocrine disorders
Q26753207Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland
Q89882659Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics
Q38262599Insights into the genetic susceptibility to type 2 diabetes from genome-wide association studies of glycaemic traits.
Q30251397Islet biology, the CDKN2A/B locus and type 2 diabetes risk
Q36254175Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals
Q34468572Large-scale whole-genome sequencing of the Icelandic population
Q35533426Linkage and association analysis of obesity traits reveals novel loci and interactions with dietary n-3 fatty acids in an Alaska Native (Yup'ik) population
Q83225950Linking glycemic dysregulation in diabetes to symptoms, comorbidities, and genetics through EHR data mining
Q39608334Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study
Q38652238Mechanisms of Type 2 Diabetes Risk Loci
Q38219242Methodology for the analysis of rare genetic variation in genome-wide association and re-sequencing studies of complex human traits
Q36960085Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
Q35487317New basal cell carcinoma susceptibility loci
Q26795455New insights from monogenic diabetes for "common" type 2 diabetes
Q47242206Novel methods for genotype imputation to whole-genome sequence and a simple linear model to predict imputation accuracy
Q50136290Obesity genetics: insights from the Pakistani population
Q36600267On Efficient and Accurate Calculation of Significance P-Values for Sequence Kernel Association Testing of Variant Set.
Q38246134Overlap of genetic susceptibility to type 1 diabetes, type 2 diabetes, and latent autoimmune diabetes in adults.
Q38595515Pacific Populations, Metabolic Disease and 'Just-So Stories': A Critique of the 'Thrifty Genotype' Hypothesis in Oceania
Q38803129Pancreatic Islet Protein Complexes and Their Dysregulation in Type 2 Diabetes
Q47864520Peripheral Arterial Disease Genetics: Progress to Date and Challenges Ahead
Q28274686Pharmacogenomics in diabetes mellitus: insights into drug action and drug discovery
Q50046253Precision nutrition for prevention and management of type 2 diabetes
Q33660160Prediction of gene expression with cis-SNPs using mixed models and regularization methods
Q38652496Prioritising Causal Genes at Type 2 Diabetes Risk Loci
Q91659453QTL-mapping and genomic prediction for bovine respiratory disease in U.S. Holsteins using sequence imputation and feature selection
Q38775863Quantifying the extent to which index event biases influence large genetic association studies
Q48174705Rare and Common Variants Conferring Risk of Tooth Agenesis.
Q29583867Rare and low-frequency coding variants alter human adult height
Q38245817Rare and low-frequency variants in human common diseases and other complex traits
Q35961979Rare coding variants and X-linked loci associated with age at menarche
Q35110309Rare variant association studies: considerations, challenges and opportunities
Q26852733Rare-variant association analysis: study designs and statistical tests
Q48190503Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes
Q92298240Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes
Q36065329Recent advances in understanding the genetic architecture of type 2 diabetes
Q26766482Recent progress in genetic and epigenetic research on type 2 diabetes
Q52327404Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Q34265051Repurposing cAMP-modulating medications to promote β-cell replication.
Q38781016Resetting the bar: Statistical significance in whole-genome sequencing-based association studies of global populations.
Q92662384Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools
Q89574589Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms
Q35982039Sequence Kernel Association Analysis of Rare Variant Set Based on the Marginal Regression Model for Binary Traits
Q28550151Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
Q33786392Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis
Q36871093Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition
Q96233486Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations
Q45981116Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Q28081028Strategies for Imputing and Analyzing Rare Variants in Association Studies
Q48258090TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH).
Q64066397The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes
Q57924792The Hunt for Low-Frequency Alleles Predisposing to Type 2 Diabetes and Related Cardiovascular Risk Factors
Q40365893The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases
Q90205461The Māori and Pacific specific CREBRF variant and adult height
Q35927955The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.
Q29583824The genetic architecture of type 2 diabetes
Q33613854The impact of rare and low-frequency genetic variants in common disease
Q34499691The pancreatic β cell: recent insights from human genetics
Q47122658The peptidylglycine-α-amidating monooxygenase (PAM) gene rs13175330 A>G polymorphism is associated with hypertension in a Korean population
Q39821664Transcriptomics in type 2 diabetes: Bridging the gap between genotype and phenotype
Q48258271Truncating mutations in RBM12 are associated with psychosis
Q63916436Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells
Q30390388Type 2 diabetes: genetic data sharing to advance complex disease research
Q34624781Using genetically isolated populations to understand the genomic basis of disease
Q34271027Variants associated with type 2 diabetes identified by the transethnic meta-analysis study: assessment in American Indians and evidence for a new signal in LPP.
Q39804212Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease
Q37376704Vejle Diabetes Biobank - a resource for studies of the etiologies of diabetes and its comorbidities
Q30373501Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
Q35063173Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes
Q90675233Wnt/β-Catenin Signaling and Obesity