Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
- Authors
- Barrett, Jeffrey C; Clayton, David G; Concannon, Patrick; Akolkar, Beena; Cooper, Jason D; Erlich, Henry A; Julier, CΓ©cile; Morahan, Grant; Nerup, JΓΈrn; Nierras, Concepcion; Plagnol, Vincent; Pociot, Flemming; Schuilenburg, Helen; Smyth, Deborah J; Stevens, Helen; Todd, John A; Walker, Neil M; Rich, Stephen S; Type 1 Diabetes Genetics Consortium
- Year
- 2009
- Journal
- Nature genetics
- PMID
- 19430480
- DOI
- 10.1038/ng.381
- PMCID
- PMC2889014
Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 reference samples. Forty-one distinct genomic locations provided evidence for association with T1D in the meta-analysis (P < 10(-6)). After excluding previously reported associations, we further tested 27 regions in an independent set of 4,267 cases, 4,463 controls and 2,319 affected sib-pair (ASP) families. Of these, 18 regions were replicated (P < 0.01; overall P < 5 Γ 10(-8)) and 4 additional regions provided nominal evidence of replication (P < 0.05). The many new candidate genes suggested by these results include IL10, IL19, IL20, GLIS3, CD69 and IL27.
Genome-wide plots of -log10 P-values from stratified 1 df tests combining results from all three studies. Values of -log10 P greater than 10 are plotted at 10. SNPs only present on the Illumina chip are shown in blue, those only present on the Affymetrix chip in red, and those present on both chips are shown in black. Points are plotted in the order red, blue, black. Previously known disease susceptibility loci are marked by vertical black lines, while new findings from the current analysis are marked by vertical grey lines (solid lines for convincingly replicated loci and dashed lines for nominally replicated results).
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| Next-Generation HLA Sequence Analysis Uncovers Seven HLA-DQ Amino Acid Residues and Six Motifs Resistant to Childhood Type 1 Diabetes. | Zhao LP et al. | β | 2020 | β |
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| Primary Angle Closure Glaucoma-associated Genetic Polymorphisms in Northeast Iran. | Yousefian A et al. | β | 2020 | β |
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| Changing the landscape for type 1 diabetes: the first step to prevention. | Dayan CM et al. | β | 2019 | β |
| Characteristics of Slow Progression to Type 1 Diabetes in Children With Increased HLA-Conferred Disease Risk. | PΓΆllΓ€nen PM et al. | β | 2019 | β |
| Combining CDKN1A gene expression and genome-wide SNPs in a twin cohort to gain insight into the heritability of individual radiosensitivity. | Zyla J et al. | β | 2019 | β |
| Effects of variants of 50 genes on diabetes risk among the Chinese population born in the early 1960s. | Song C et al. | β | 2019 | β |
| Eleven Amino Acids of HLA-DRB1 and Fifteen Amino Acids of HLA-DRB3, 4, and 5 Include Potentially Causal Residues Responsible for the Risk of Childhood Type 1 Diabetes. | Zhao LP et al. | β | 2019 | β |
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| Factors associated with therapeutic target achievement in the control of complications in consequence of diabetes: A hospital-based study in west of Iran. | Barzkar H et al. | β | 2019 | β |
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| Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes. | Johnson MB et al. | β | 2019 | β |
| Genetic Restoration of Heme Oxygenase-1 Expression Protects from Type 1 Diabetes in NOD Mice. | Pogu J et al. | β | 2019 | β |
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| Genetic Variation Within the <i>HLA-DRA1</i> Gene Modulates Susceptibility to Type 1 Diabetes in HLA-DR3 Homozygotes. | Aydemir Γ et al. | β | 2019 | β |
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| Human Leukocyte Antigen (HLA) and Islet Autoantibodies Are Tools to Characterize Type 1 Diabetes in Arab Countries: Emphasis on Kuwait. | Jahromi M et al. | β | 2019 | β |
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| Impact of the Polymorphism of the <i>PACRG</i> and <i>CD80</i> Genes on the Development of the Different Stages of Tuberculosis Infection. | Bragina EY et al. | β | 2019 | β |
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| Interleukin-27 Is Essential for Type 1 Diabetes Development and SjΓΆgren Syndrome-like Inflammation. | Ciecko AE et al. | β | 2019 | β |
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| Risk variants disrupting enhancers of T<sub>H</sub>1 and T<sub>REG</sub> cells in type 1 diabetes. | Gao P et al. | β | 2019 | β |
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| The association between rs1893217, rs478582 in PTPN2 and T1D risk with different diagnosed age, and related clinical characteristics in Chinese Han population. | Chen S et al. | β | 2019 | β |
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| Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated. | Johnson MB et al. | β | 2019 | β |
| Type 1 Diabetes: an Association Between Autoimmunity, the Dynamics of Gut Amyloid-producing E. coli and Their Phages. | Tetz G et al. | β | 2019 | β |
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| A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle. | Stein MM et al. | β | 2018 | β |
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| Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus. | Jermendy Γ et al. | β | 2018 | β |
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| Associations of CTLA4 +49 A/G Dimorphism and HLA-DRB1*/DQB1* Alleles With Type 1 Diabetes from South India. | Padma-Malini R et al. | β | 2018 | β |
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| Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. | Namjou B et al. | β | 2014 | β |
| Polymorphism in the innate immune receptor SIRPΞ± controls CD47 binding and autoimmunity in the nonobese diabetic mouse. | Wong AS et al. | β | 2014 | β |
| Polymorphisms in the TLR3 gene are associated with risk for type 1 diabetes mellitus. | Assmann TS et al. | β | 2014 | β |
| Principal component analysis characterizes shared pathogenetics from genome-wide association studies. | Chang D et al. | β | 2014 | β |
| Protein interaction networks reveal novel autism risk genes within GWAS statistical noise. | Correia C et al. | β | 2014 | β |
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| Reduced morbidity at diagnosis and improved glycemic control in children previously enrolled in DiPiS follow-up. | Lundgren M et al. | β | 2014 | β |
| Renalase, a new secretory enzyme: Its role in hypertensive-ischemic cardiovascular diseases. | Li X et al. | β | 2014 | β |
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| Renalase: its role as a cytokine, and an update on its association with type 1 diabetes and ischemic stroke. | Guo X et al. | β | 2014 | β |
| Renalase prevents AKI independent of amine oxidase activity. | Wang L et al. | β | 2014 | β |
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| Role of vitamin D in acquired immune and autoimmune diseases. | Delvin E et al. | β | 2014 | β |
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| SIRT1 promoter polymorphisms as clinical modifiers on systemic lupus erythematosus. | Consiglio CR et al. | β | 2014 | β |
| SNPs in the exons of Toll-like receptors are associated with susceptibility to type 1 diabetes in Chinese population. | Sun C et al. | β | 2014 | β |
| The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. | Kullo IJ et al. | β | 2014 | β |
| The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells. | Shahijanian F et al. | β | 2014 | β |
| The human pancreas proteome defined by transcriptomics and antibody-based profiling. | Danielsson A et al. | β | 2014 | β |
| The intestinal microbiome in type 1 diabetes. | Dunne JL et al. | β | 2014 | β |
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| The Missing lnc(RNA) between the pancreatic Ξ²-cell and diabetes. | Kameswaran V et al. | β | 2014 | β |
| The pancreatic Ξ²-cell transcriptome and integrated-omics. | Blodgett DM et al. | β | 2014 | β |
| The Raikas - a unique combination of high prevalence of type 1 diabetes susceptibility genes and near zero incidence of the disease. | Bhat DK et al. | β | 2014 | β |
| The role of Toll-like receptors and vitamin D in diabetes mellitus type 1--a review. | Adamczak DM et al. | β | 2014 | β |
| The roles of genetic factors in uveitis and their clinical significance. | Yang MM et al. | β | 2014 | β |
| The rs1893217 (T/C) polymorphism in PTPN2 gene is not associated with type 1 diabetes mellitus in subjects from Southern Brazil. | Rheinheimer J et al. | β | 2014 | β |
| Tissue-specific methylation of human insulin gene and PCR assay for monitoring beta cell death. | Husseiny MI et al. | β | 2014 | β |
| TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM. | Lichti-Kaiser K et al. | β | 2014 | β |
| Trials in the prevention of type 1 diabetes: current and future. | Wherrett DK | β | 2014 | β |
| Type 2 diabetes susceptibility gene variants predispose to adult-onset autoimmune diabetes. | Andersen MK et al. | β | 2014 | β |
| Type I diabetes mellitus: genetic factors and presumptive enteroviral etiology or protection. | Precechtelova J et al. | β | 2014 | β |
| VSEAMS: a pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes. | Burren OS et al. | β | 2014 | β |
| Zinc transporter 8 autoantibodies in patients with type 1 diabetes from a multiethnic population and their first degree relatives. | Araujo DB et al. | β | 2014 | β |
| A flexible approach for the analysis of rare variants allowing for a mixture of effects on binary or quantitative traits. | Clarke GM et al. | β | 2013 | β |
| A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes. | Awata T et al. | β | 2013 | β |
| Altered immune regulation in type 1 diabetes. | ZΓ³ka A et al. | β | 2013 | β |
| Analytical strategies for large imaging genetic datasets: experiences from the IMAGEN study. | Nymberg C et al. | β | 2013 | β |
| APOA5 genotype influences the association between 25-hydroxyvitamin D and high density lipoprotein cholesterol. | Vimaleswaran KS et al. | β | 2013 | β |
| Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: a meta-analysis. | Cen H et al. | β | 2013 | β |
| A unified approach for allele frequency estimation, SNP detection and association studies based on pooled sequencing data using EM algorithms. | Chen Q et al. | β | 2013 | β |
| Candidate genes expressed in human islets and their role in the pathogenesis of type 1 diabetes. | Storling J et al. | β | 2013 | β |
| Candidate genes for type 1 diabetes modulate pancreatic islet inflammation and Ξ²-cell apoptosis. | Santin I et al. | β | 2013 | β |
| Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome. | Nica AC et al. | β | 2013 | β |
| Characteristics of rapid vs slow progression to type 1 diabetes in multiple islet autoantibody-positive children. | Achenbach P et al. | β | 2013 | β |
| Clinical implications of shared genetics and pathogenesis in autoimmune diseases. | Zhernakova A et al. | β | 2013 | β |
| Complex multi-block analysis identifies new immunologic and genetic disease progression patterns associated with the residual Ξ²-cell function 1 year after diagnosis of type 1 diabetes. | Andersen ML et al. | β | 2013 | β |
| Contribution of 32 GWAS-identified common variants to severe obesity in European adults referred for bariatric surgery. | MΓ€gi R et al. | β | 2013 | β |
| CpG methylation changes within the IL2RA promoter in type 1 diabetes of childhood onset. | Belot MP et al. | β | 2013 | β |
| Definition of high-risk type 1 diabetes HLA-DR and HLA-DQ types using only three single nucleotide polymorphisms. | Nguyen C et al. | β | 2013 | β |
| Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. | Hinks A et al. | β | 2013 | β |
| DHCR7 mutations linked to higher vitamin D status allowed early human migration to northern latitudes. | Kuan V et al. | β | 2013 | β |
| DNA methylation in monozygotic quadruplets affected by type 1 diabetes. | Disanto G et al. | β | 2013 | β |
| Do post-translational beta cell protein modifications trigger type 1 diabetes? | StΓΈrling J et al. | β | 2013 | β |
| Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice. | Nolan LS et al. | β | 2013 | β |
| Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young. | Frederiksen BN et al. | β | 2013 | β |
| Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes. | Granell R et al. | β | 2013 | β |
| eXclusion: toward integrating the X chromosome in genome-wide association analyses. | Wise AL et al. | β | 2013 | β |
| Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. | Christophersen IE et al. | β | 2013 | β |
| Functional analysis of the impact of ORMDL3 expression on inflammation and activation of the unfolded protein response in human airway epithelial cells. | Hsu KJ et al. | β | 2013 | β |
| Genes involved in type 1 diabetes: an update. | Bakay M et al. | β | 2013 | β |
| Genetic and epigenetic factors in etiology of diabetes mellitus type 1. | Stankov K et al. | β | 2013 | β |
| Genetic association analysis of vitamin D pathway with obesity traits. | Vimaleswaran KS et al. | β | 2013 | β |
| Genetic association studies in female reproduction: from candidate-gene approaches to genome-wide mapping. | Zhao H et al. | β | 2013 | β |
| Genetic basis of alopecia areata: a roadmap for translational research. | Jabbari A et al. | β | 2013 | β |
| Genetic interactions among Idd3, Idd5.1, Idd5.2, and Idd5.3 protective loci in the nonobese diabetic mouse model of type 1 diabetes. | Lin X et al. | β | 2013 | β |
| Genetic susceptibility to SLE: recent progress from GWAS. | Cui Y et al. | β | 2013 | β |
| Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. | Miller FW et al. | β | 2013 | β |
| Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions. | Zilbauer M et al. | β | 2013 | β |
| Genome-wide search for exonic variants affecting translational efficiency. | Li Q et al. | β | 2013 | β |
| GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim. | Nogueira TC et al. | β | 2013 | β |
| Global chromatin state analysis reveals lineage-specific enhancers during the initiation of human T helper 1 and T helper 2 cell polarization. | Hawkins RD et al. | β | 2013 | β |
| GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. | Simmonds MJ | β | 2013 | β |
| HLA class II gene associations in African American type 1 diabetes reveal a protective HLA-DRB1*03 haplotype. | Howson JM et al. | β | 2013 | β |
| HLA class II SNP interactions and the association with type 1 diabetes mellitus in Bengali speaking patients of Eastern India. | Raha O et al. | β | 2013 | β |
| Identification of a SIRT1 mutation in a family with type 1 diabetes. | Biason-Lauber A et al. | β | 2013 | β |
| Identification of BACH2 and RAD51B as rheumatoid arthritis susceptibility loci in a meta-analysis of genome-wide data. | McAllister K et al. | β | 2013 | β |
| Immune intervention therapy in type 1 diabetes: safety first. | Roep BO | β | 2013 | β |
| Immune mechanisms in type 1 diabetes. | WΓ₯llberg M et al. | β | 2013 | β |
| ImmunoChip study implicates antigen presentation to T cells in narcolepsy. | Faraco J et al. | β | 2013 | β |
| Influence of host immunoregulatory genes, ER stress and gut microbiota on the shared pathogenesis of inflammatory bowel disease and Type 1 diabetes. | Gjymishka A et al. | β | 2013 | β |
| Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. | Holton P et al. | β | 2013 | β |
| Integrated analysis of genome-wide genetic and epigenetic association data for identification of disease mechanisms. | Ke X et al. | β | 2013 | β |
| Integrated enrichment analysis of variants and pathways in genome-wide association studies indicates central role for IL-2 signaling genes in type 1 diabetes, and cytokine signaling genes in Crohn's disease. | Carbonetto P et al. | β | 2013 | β |
| Interindividual transcriptional regulation of the human biglycan gene involves three common molecular haplotypes. | Schmitz B et al. | β | 2013 | β |
| Linkage of type 2 diabetes on chromosome 9p24 in Mexican Americans: additional evidence from the Veterans Administration Genetic Epidemiology Study (VAGES). | Farook VS et al. | β | 2013 | β |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. | Lauc G et al. | β | 2013 | β |
| Lupus-like oral mucosal lesions in mercury-induced autoimmune response in Brown Norway rats. | Seno K et al. | β | 2013 | β |
| Mapping of immune-mediated disease genes. | RicaΓ±o-Ponce I et al. | β | 2013 | β |
| Nearby Construction Impedes the Progression to Overt Autoimmune Diabetes in NOD Mice. | Hillhouse EE et al. | β | 2013 | β |
| Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. | Hunt KA et al. | β | 2013 | β |
| Next generation sequencing reveals the association of DRB3*02:02 with type 1 diabetes. | Erlich HA et al. | β | 2013 | β |
| ORMDL3 modulates store-operated calcium entry and lymphocyte activation. | Carreras-Sureda A et al. | β | 2013 | β |
| Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium. | Olden M et al. | β | 2013 | β |
| Pharmacogenetic perturbations in humans as a tool to generate mechanistic insight. | Florez JC | β | 2013 | β |
| Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease. | Zurawek M et al. | β | 2013 | β |
| Prediction of type 1 diabetes. | Erlich HA et al. | β | 2013 | β |
| Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression. | Sakurai D et al. | β | 2013 | β |
| Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. | Chatterjee N et al. | β | 2013 | β |
| PTPN22 silencing in the NOD model indicates the type 1 diabetes-associated allele is not a loss-of-function variant. | Zheng P et al. | β | 2013 | β |
| PUMA: a unified framework for penalized multiple regression analysis of GWAS data. | Hoffman GE et al. | β | 2013 | β |
| Receiver operating characteristic analysis of HLA, CTLA4, and insulin genotypes for type 1 diabetes. | Valdes AM et al. | β | 2013 | β |
| Replication study of ulcerative colitis risk loci in a Lithuanian-Latvian case-control sample. | Skieceviciene J et al. | β | 2013 | β |
| Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. | Zhao SX et al. | β | 2013 | β |
| Roles of the protein tyrosine phosphatase PTPN22 in immunity and autoimmunity. | Fousteri G et al. | β | 2013 | β |
| RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families. | DomarkienΔ I et al. | β | 2013 | β |
| Shared dysregulated pathways lead to Parkinson's disease and diabetes. | Santiago JA et al. | β | 2013 | β |
| Signal transducer and activator of transcription 6 directly regulates human ORMDL3 expression. | Qiu R et al. | β | 2013 | β |
| Signatures of natural selection on genetic variants affecting complex human traits. | Zhang G et al. | β | 2013 | β |
| Statistical testing of shared genetic control for potentially related traits. | Wallace C | β | 2013 | β |
| Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study. | Gonzalez S et al. | β | 2013 | β |
| Sustained expression of the transcription factor GLIS3 is required for normal beta cell function in adults. | Yang Y et al. | β | 2013 | β |
| Systematic evaluation of validated type 2 diabetes and glycaemic trait loci for association with insulin clearance. | Goodarzi MO et al. | β | 2013 | β |
| Systematic identification of trans eQTLs as putative drivers of known disease associations. | Westra HJ et al. | β | 2013 | β |
| Systems approaches to human autoimmune diseases. | Banchereau R et al. | β | 2013 | β |
| The benefits of using genetic information to design prevention trials. | Hu Y et al. | β | 2013 | β |
| The CD19 signalling molecule is elevated in NOD mice and controls type 1 diabetes development. | Ziegler AI et al. | β | 2013 | β |
| The changing landscape of type 1 diabetes: recent developments and future frontiers. | Vehik K et al. | β | 2013 | β |
| The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway. | 't Hart LM et al. | β | 2013 | β |
| The development of genome-wide association studies and their application to complex diseases, including lupus. | Bentham J et al. | β | 2013 | β |
| The emerging global epidemic of type 1 diabetes. | Tuomilehto J | β | 2013 | β |
| The genetics of diabetic nephropathy. | Brennan E et al. | β | 2013 | β |
| The genetics of innate immunity sensors and human disease. | Pothlichet J et al. | β | 2013 | β |
| The Idd13 congenic interval defines the number of merocytic dendritic cells, aΒ novel trait associated with autoimmune diabetes susceptibility. | Pelletier AN et al. | β | 2013 | β |
| The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases. | Manchia M et al. | β | 2013 | β |
| The Missing Heritability in T1D and Potential New Targets for Prevention. | Pierce BG et al. | β | 2013 | β |
| The pancreatic Ξ² cell and type 1 diabetes: innocent bystander or active participant? | Soleimanpour SA et al. | β | 2013 | β |
| The potential role of dendritic cells in the therapy of Type 1 diabetes. | Lee CN et al. | β | 2013 | β |
| The PTPN22 1858T allele but not variants in the proximal promoter region of IL-21 gene is associated with the susceptibility to type 1 diabetes and the presence of autoantibodies in a Brazilian cohort. | Mainardi-Novo DT et al. | β | 2013 | β |
| The unfolded protein response and gastrointestinal disease. | Kaser A et al. | β | 2013 | β |
| Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus. | Ochoa E et al. | β | 2013 | β |
| TORC1-regulated protein kinase Npr1 phosphorylates Orm to stimulate complex sphingolipid synthesis. | Shimobayashi M et al. | β | 2013 | β |
| Transmission disequilibrium analysis of 31 type 1 diabetes susceptibility loci in Finnish families. | Laine AP et al. | β | 2013 | β |
| Type 1 diabetes: prospective cohort studies for identification of the environmental trigger. | RΓΈnningen KS | β | 2013 | β |
| Type 1 diabetes: translating mechanistic observations into effective clinical outcomes. | Herold KC et al. | β | 2013 | β |
| Type 2 diabetes mellitus--an autoimmune disease? | Velloso LA et al. | β | 2013 | β |
| Understanding type 1 diabetes: etiology and models. | Acharjee S et al. | β | 2013 | β |
| Using genetic prediction from known complex disease Loci to guide the design of next-generation sequencing experiments. | Jostins L et al. | β | 2013 | β |
| Validation of reported genetic risk factors for periodontitis in a large-scale replication study. | Schaefer AS et al. | β | 2013 | β |
| Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA). | Omoyinmi E et al. | β | 2012 | β |
| A survey of copy-number variation detection tools based on high-throughput sequencing data. | Xi R et al. | β | 2012 | β |
| Autoimmunity: insights from human genomics. | Raychaudhuri S et al. | β | 2012 | β |
| Breaking free from the chains of pathway annotation: de novo pathway discovery for the analysis of disease processes. | Lehne B et al. | β | 2012 | β |
| Comparative genetics: synergizing human and NOD mouse studies for identifying genetic causation of type 1 diabetes. | Driver JP et al. | β | 2012 | β |
| From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era. | Baxter AG et al. | β | 2012 | β |
| Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. | Traylor M et al. | β | 2012 | β |
| Genetics of type 2 diabetes in East Asian populations. | Cho YS et al. | β | 2012 | β |
| Human genetics offers an emerging picture of common pathways and mechanisms in autoimmunity. | Voight BF et al. | β | 2012 | β |
| Humoral autoimmunity in type 1 diabetes: prediction, significance, and detection of distinct disease subtypes. | Pietropaolo M et al. | β | 2012 | β |
| Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems. | Mercader JM et al. | β | 2012 | β |
| IL12RB2 gene is associated with the age of type 1 diabetes onset in Croatian family Trios. | PehliΔ M et al. | β | 2012 | β |
| Influence of type 1 diabetes genes on disease progression: similarities and differences between countries. | Lempainen J et al. | β | 2012 | β |
| Novel biomarkers in type 1 diabetes. | Jin Y et al. | β | 2012 | β |
| Protein tyrosine phosphatases and type 1 diabetes: genetic and functional implications of PTPN2 and PTPN22. | Cerosaletti K et al. | β | 2012 | β |
| Risk for myasthenia gravis maps to a (151) ProβAla change in TNIP1 and to human leukocyte antigen-B*08. | Gregersen PK et al. | β | 2012 | β |
| Type 1 diabetes therapy beyond T cell targeting: monocytes, B cells, and innate lymphocytes. | Wong FS et al. | β | 2012 | β |
| What will diabetes genomes tell us? | Mohlke KL et al. | β | 2012 | β |