{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina 1.2M, Affymetrix 6.0, Affymetrix 6.0 - CHIAMO"],"study_type":["Genotypes & Phenotypes"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00000000121"],"host":["EGA"],"description":["EGA study EGAS00000000121"],"dataset_title":["Title not provided"],"category":["restricted"],"repository":["EGA"],"pubmed_abstract":["Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin in 1,024 Scottish individuals with type 2 diabetes with replication in two cohorts including 1,783 Scottish individuals and 1,113 individuals from the UK Prospective Diabetes Study. In a combined meta-analysis, we identified a SNP, rs11212617, associated with treatment success (n = 3,920, P = 2.9 × 10(-9), odds ratio = 1.35, 95% CI 1.22-1.49) at a locus containing ATM, the ataxia telangiectasia mutated gene. In a rat hepatoma cell line, inhibition of ATM with KU-55933 attenuated the phosphorylation and activation of AMP-activated protein kinase in response to metformin. We conclude that ATM, a gene known to be involved in DNA repair and cell cycle control, plays a role in the effect of metformin upstream of AMP-activated protein kinase, and variation in this gene alters glycemic response to metformin."],"pubmed_title":["Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes."],"pubmed_authors":["Zhou Kaixin K, Bellenguez Celine C, Spencer Chris C A CC, Bennett Amanda J AJ, Coleman Ruth L RL, Tavendale Roger R, Hawley Simon A SA, Donnelly Louise A LA, Schofield Chris C, Groves Christopher J CJ, Burch Lindsay L, Carr Fiona F, Strange Amy A, Freeman Colin C, Blackwell Jenefer M JM, Bramon Elvira E, Brown Matthew A MA, Casas Juan P JP, Corvin Aiden A, Craddock Nicholas N, Deloukas Panos P, Dronov Serge S, Duncanson Audrey A, Edkins Sarah S, Gray Emma E, Hunt Sarah S, Jankowski Janusz J, Langford Cordelia C, Markus Hugh S HS, Mathew Christopher G CG, Plomin Robert R, Rautanen Anna A, Sawcer Stephen J SJ, Samani Nilesh J NJ, Trembath Richard R, Viswanathan Ananth C AC, Wood Nicholas W NW, Harries Lorna W LW, Hattersley Andrew T AT, Doney Alex S F AS, Colhoun Helen H, Morris Andrew D AD, Sutherland Calum C, Hardie D Grahame DG, Peltonen Leena L, McCarthy Mark I MI, Holman Rury R RR, Palmer Colin N A CN, Donnelly Peter P, Pearson Ewan R ER"],"name_synonyms":["Hydroxymethylglutaryl-Coenzyme A Inhibitors, Hydroxymethylglutaryl CoA, study., HMG CoA Reductase, Hydroxymethylglutaryl CoA Reductase Inhibitors, Statins, Hydroxymethylglutaryl CoA Reductase Inhibitor, Hydroxymethylglutaryl-CoA Inhibitors, Reductase Inhibitor, Reductase Inhibitors, HMG-CoA reductase inhibitors, Hydroxymethylglutaryl-CoA Reductase, HMG-CoA Reductase, HMG-CoA, HMG CoA, HMG CoA Reductase Inhibitor, Statin, Hydroxymethylglutaryl-Coenzyme A, Hydroxymethylglutaryl-CoA, Inhibitors, Hydroxymethylglutaryl-CoA Reductase Inhibitor, HMG-CoA Reductase Inhibitor, Hydroxymethylglutaryl Coenzyme A, HMG-CoA Reductase Inhibitors, HMG CoA Reductase Inhibitors, HMG-CoA Statins"],"description_synonyms":["Hydroxymethylglutaryl-Coenzyme A Inhibitors, study, Hydroxymethylglutaryl CoA, wide/broad, Genomes, whole genome, broad, HMG CoA Reductase, Hydroxymethylglutaryl CoA Reductase Inhibitors, Statins, Hydroxymethylglutaryl CoA Reductase Inhibitor, Hydroxymethylglutaryl-CoA., Hydroxymethylglutaryl-CoA Inhibitors, Reductase Inhibitor, wide, Reductase Inhibitors, HMG-CoA reductase inhibitors, Hydroxymethylglutaryl-CoA Reductase, HMG-CoA Reductase, HMG-CoA, HMG CoA, HMG CoA Reductase Inhibitor, Statin, Hydroxymethylglutaryl-Coenzyme A, Hydroxymethylglutaryl-CoA, Inhibitors, Hydroxymethylglutaryl-CoA Reductase Inhibitor, HMG-CoA Reductase Inhibitor, Hydroxymethylglutaryl Coenzyme A, HMG-CoA Reductase Inhibitors, HMG CoA Reductase Inhibitors, HMG-CoA Statins"],"pubmed_title_synonyms":["Type 2 diabetes, T2DM - Type 2 Diabetes mellitus, Adult-Onset Diabetes Mellitus, Diabetes Type 2, type 2, Tefu, Adult-onset diabetes, Type 2 diabetes mellitus, ARABIDOPSIS THALIANA ATAXIA-TELANGIECTASIA MUTATED, Noninsulin Dependent, Adult-onset diabetes mellitus, CG6535, MODY, tef, Type 2 Diabetes Mellitus, DIABETES MELLITUS TYPE 02, atm, diabetes mellitus type 2, Maturity-onset diabetes, Noninsulin-dependent diabetes mellitus, Adult-Onset, atm/tefu, DmelCG6535, T2D, Adult-Onset Diabetes, C030026E19Rik, Non-Insulin-Dependent, Slow-Onset Diabetes Mellitus, Maturity-Onset, TEL1, Non-Insulin Dependent Diabetes Mellitus, Maturity Onset Diabetes, Type 2 Diabetes Mellitus Non-Insulin Dependent, non-insulin-dependent diabetes mellitus, Ketosis Resistant, dATM, Slow Onset, Maturity-Onset Diabetes Mellitus, TELO1, Maturity-Onset Diabetes, tel1, T2DM, AI256621, Type 2 Diabetes, Non-Insulin-Dependent Diabetes Mellitus, Type II Diabetes, common, Maturity Onset Diabetes Mellitus, Type 2, ataxia-telangiectasia mutated, adult-onset, Stable Diabetes Mellitus., ATATM, AT1, at1, atdc, Ketosis-Resistant Diabetes Mellitus, NIDDM, Noninsulin-Dependent Diabetes Mellitus, type II, Noninsulin-Dependent, Diabetes mellitus, non-insulin-dependent, Non-Insulin Dependent Diabetes, Maturity-onset diabetes mellitus, Noninsulin Dependent Diabetes Mellitus, Stable, Xatm, MODY (Maturity-onset diabetes of the young), ATDC, Diabetes Mellitus, ATA, telo1, ATC, ATD, ATE, Ketosis-Resistant, Type II, Non Insulin Dependent, ATM, Slow-Onset, Atm, Diabetes, Maturity Onset, Adult Onset"],"pubmed_abstract_synonyms":["Modb1, Genome-Wide Association, Adult-Onset Diabetes Mellitus, Diabetes Type 2, type 2, LA-6023, Rat, dimethyldiguanide, Adenosine 5' Phosphate, Materials, dAmph, tumor suppressor, APRTD, Laboratory, Adenylic Acid, Whole Genome Association Study, vif, tef, Norway Rat, Type 2 Diabetes Mellitus, regulation of cell cycle transition, Progress Reports, protein, A Genes, 5'-Adenosine monophosphate, CG30327, PAdo, diabetes mellitus type 2, Norway Rats, phosphorylation, Arrests, CG11478, Relative, Odds Ratios, 6-(D-(2-amino-2-phenylacetamido))-3, atm/tefu, rat, Cell Cycle-Transition Points, cell cycle regulator, damph, Roles, Summary Report, Mammals, ampicillin acid, AP, Adenosine-5'-monophosphoric acid, 1, Non-Insulin Dependent Diabetes Mellitus, Concepts, Maturity Onset Diabetes, aminobenzylpenicillin, Cell Cycle Transition Points, Norway rat, Kinase, Imidodicarbonimidic diamide, protein aggregate, Leprb, Slow Onset, Summary Reports, Risk Ratio, TELO1, DM - Diabetes mellitus, treatment, A, GWA Study, DmelCG42257, ampicillin anhydrous, 3-DIMETHYL-7-OXO-4-THIA-1-AZABICYCLO[3.2.0]HEPTANE-2-CARBOXYLIC ACID, Progress Report, sor Genes, N, Q, A-T mutated, adenosine phosphate, Dimethylbiguanidine, 5'-Adenylic acid, AT1, phosphate d'adenosine, Ketosis-Resistant Diabetes Mellitus, NIDDM, Genome-Wide Association Studies, at1, Laboratory Rat, N(1)-dimethylbiguanide, Progress, Noninsulin-Dependent, Diabetes mellitus, Field Reports, ampicilina, metformin, MODY (Maturity-onset diabetes of the young), ATA, Role Concepts, disease management, telo1, Therapies, ATC, ATD, ATE, Cell Cycle, ATP Phosphotransferases, Cell Cycle Arrest, Non Insulin Dependent, ATM, Atm, ATP, db, Therapy, Anhydrous ampicillin, 2'-Adenosine Monophosphate, Adenosine 3'-Phosphate, DM, (2S, hepatocarcinoma cell line, Adenosine Phosphate Dipotassium, Adult-onset diabetes mellitus, Ratios, N-dimethylguanylguanidine, Rattus, atm, Genome-Wide, 2'-Adenylic Acid, Noninsulin-dependent diabetes mellitus, Adenosine 3' Phosphate, Adult-Onset, OB-RGRP, Mus norvegicus, 3-dimethyl-7-oxo-4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid, Role Concept, N-dimethyl-, Rattus norwegicus, Investigative Report, Adult-Onset Diabetes, Genome Wide Association Study, metformine, CG6393, 2'-Adenylic, Role, fosfato de adenosina, Genetic Materials, 3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid, NOS, Ketosis Resistant, Whole Genome Association Analysis, D-(-)-6-(alpha-aminophenylacetamido)penicillanic acid, Metformin, metforminum, Maturity-Onset Diabetes Mellitus, Genetic Material, activation, 5R, dimethylbiguanide, Acid, Dmel_CG6393, Transphosphorylases, Arrest, vif Genes, Q Genes, Risk, metformina, HCl, Field, Type II Diabetes, Control, Adenosine 5'-Phosphate, N-dimethyldiguanide, Phosphaden, INSDC_feature:gene, 6R)-6-{[(2R)-2-AMINO-2-PHENYLETHANOYL]AMINO}-3, Type 2, Controls, 5'-O-phosphonoadenosine, rats, Treatments, ATATM, ampicillinum, Obr, Diabetes NOS, Noninsulin-Dependent Diabetes Mellitus, Adenosine, type II, Cycle-Transition Point, Report, non-insulin-dependent, Non-Insulin Dependent Diabetes, Material, hepatocellular carcinoma cell line, spindle cells, Cistron, Association Study, Ataxia telangiectasia mutated, Genetic Material., obl, Monophosphate, Slow-Onset, adenosini phosphas, Glucophage, DAMP, T2DM - Type 2 Diabetes mellitus, DmelCG8604, Tefu, norvegicus, amph, Phosphate Disodium, ARABIDOPSIS THALIANA ATAXIA-TELANGIECTASIA MUTATED, Metformin Hydrochloride, Noninsulin Dependent, Genome Wide Association Analysis, vif Gene, Cell Cycle Control, Adenosine 2' Phosphate, Gene, N(1), sor Gene, DIABETES MELLITUS TYPE 02, adenosine 5'-(dihydrogen phosphate), protein-containing complex, Maturity-onset diabetes, Damp, Dimethylguanylguanidine, Rattus sp. strain Wistar, DmelCG6535, GWA Studies, Investigative, Rats, C030026E19Rik, Non-Insulin-Dependent, Studies, Diabetes mellitus (disorder), Gene Products, DNA Damage Response, non-insulin-dependent diabetes mellitus, Rattus rattiscus, 5'-Adenylic, attenuated, 6R)-6-{[(2R)-2-amino-2-phenylacetyl]amino}-3, Phosphotransferase, Maturity-Onset Diabetes, tel1, brown rat, T2DM, study, 5'-AMP, Cross-Product Ratio, Risk Ratios, Rattus norvegicus, 2' Adenosine Monophosphate, Genetic, Adenylate, N-dimethylbiguanide, Non-Insulin-Dependent Diabetes Mellitus, GWA, 1-dimethylbiguanide, obese-like, Maturity Onset Diabetes Mellitus, liver cancer cell line, Transphosphorylase, adult-onset, Ratio, Genome Wide Association Scan, Study, Odds, LA 6023, ampicilline, N-dimethylimidodicarbonimidic diamide, Maturity-onset diabetes mellitus, Noninsulin Dependent Diabetes Mellitus, Stable, HCC cell line, Xatm, Diabetes Mellitus, 65K, Ado5'P, CG42257, Dmel_CG30327, Metformin HCl, Checkpoint, Ketosis-Resistant, 5'-Phosphate, snp, Cell Cycle-Transition, Investigative Reports, Diabetes, A Gene, diabetes, Adult Onset, Rattus norvegicus8, Type 2 diabetes, 2'-AMP, ADENOSINE MONOPHOSPHATE, cg11478, Cross-Product, hepatic cancer cell line, Cell Cycle-Transition Point, Adult-onset diabetes, Type 2 diabetes mellitus, protein complex, Proteins, Phosphorylations, MODY, CG6535, 5' Adenylic Acid, sor, Cistrons, 2'-Adenosine, Phosphotransferases, Cell, Cross-Product Ratios, diabetes mellitus (disease), Concept, ampicillin, AMP, 2.7.11.1, Amp, T2D, Checkpoints, native protein, Laboratory Rats, Research Reports, Protein, 5'-Adenylic Acid, Hydrochloride, Slow-Onset Diabetes Mellitus, Maturity-Onset, TEL1, CG8604, Type 2 Diabetes Mellitus Non-Insulin Dependent, Adenosine Phosphate, dATM, D-(-)-ampicillin, Cell Cycle Arrests, Q Gene, Cross Product Ratio, Adenosine 5'-phosphate, LEPROT, 6R)-6-{[(2R)-2-amino-2-phenylethanoyl]amino}-3, AI256621, Type 2 Diabetes, Genes, Phosphate Dipotassium, diabetes mellitus, ABPC, cell cycle control, Cell Cycle Controls, Kinases, adenosine-5'P, pA, Disodium, ataxia-telangiectasia mutated, Adenosine 2'-Phosphate, Genome Wide Association Studies, atdc, Cell Cycle Checkpoint, Protein Gene Products, Gene Proteins, Relative Odds, Adenosine Phosphate Disodium, Dipotassium, Therapeutic, Reports, Point, ATDC, Association Studies, Treatment, 2' Adenylic Acid, Norway, Type II, Summary, Stable Diabetes Mellitus, Maturity Onset, Adenylic acid, Field Report, Gunn rats"],"additional_accession":[]},"is_claimable":false,"name":"WTCCC2 Pharmacogenomic Response to Statins study","description":"A WTCCC2 project genome-wide study for pharmacogenomic response to statins (PR) in individuals from Scotland.\n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n","dates":{"updated":"2019-10-31 12:52:09"},"accession":"EGAS00000000121","cross_references":{"TAXONOMY":["9606"],"pubmed":["21186350"],"EGA":["EGAD00000000022","EGAD00000000021","EGAD00000000024","EGAD00000000023","EGAD00010000282","EGAC00001000205"]}}