Dr Inês Barroso | Senior Group Leader

Barroso, Inês

Inês is leader of the Metabolic Disease Group. She uses genetic and genomic approaches to understand the aetiology of common and rare forms of metabolic disease, as well as host genetics of infection.

I am interested in understanding the causes and mechanisms underlying common and rare forms of metabolic disease, with a particular focus on type 2 diabetes, obesity, and related quantitative traits, as well as rare syndromes of insulin resistance and early onset childhood obesity.

We use genome-wide association approaches to identify loci with a role in obesity and quantitative traits related to type 2 diabetes. We lead MAGIC (Meta-Analysis of Glucose and Insulin-related traits Consortium) and have been involved in other large consortia efforts, such as GIANT, that aim to increase power by performing meta-analyses across many different studies. We also use re-sequencing approaches to identify rare variants (mutations) that may underlie disease in affected individuals with extreme forms of disease, for example, severe early onset obesity. Lastly, to understand gene function we are using models, such as classical knockouts and CRISPR/Cas9 engineered mutants, to gain insights into disease mechanism.

Publications

  • Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.

    Payne F, Lim K, Girousse A, Brown RJ, Kory N et al.

    Proceedings of the National Academy of Sciences of the United States of America 2014;111;24;8901-6

  • Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

    Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S et al.

    Nature genetics 2013;45;5;513-7

  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

    Scott RA, Lagou V, Welch RP, Wheeler E, Montasser ME et al.

    Nature genetics 2012;44;9;991-1005

  • Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

    Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S et al.

    Nature genetics 2012;44;8;928-33

  • An activating mutation of AKT2 and human hypoglycemia.

    Hussain K, Challis B, Rocha N, Payne F, Minic M et al.

    Science (New York, N.Y.) 2011;334;6055;474

  • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

    Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N et al.

    Nature genetics 2010;42;2;105-16

  • Common variants near MC4R are associated with fat mass, weight and risk of obesity.

    Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH et al.

    Nature genetics 2008;40;6;768-75

  • Common variants in WFS1 confer risk of type 2 diabetes.

    Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL et al.

    Nature genetics 2007;39;8;951-3

  • A family with severe insulin resistance and diabetes due to a mutation in AKT2.

    George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S et al.

    Science (New York, N.Y.) 2004;304;5675;1325-8

  • Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.

    Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW et al.

    Nature 1999;402;6764;880-3

  • Lyplal1 is dispensable for normal fat deposition in mice.

    Watson RA, Gates AS, Wynn EH, Calvert FE, Girousse A et al.

    Disease models & mechanisms 2017

  • Genetic aetiology of glycaemic traits: approaches and insights.

    Wheeler E, Marenne G and Barroso I

    Human molecular genetics 2017;26;R2;R172-R184

  • Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

    Rocha NM, Bulger DA, Frontini A, Titheradge H, Gribsholt SB et al.

    eLife 2017;6

  • A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits.

    Asimit JL, Payne F, Morris AP, Cordell HJ and Barroso I

    European journal of human genetics : EJHG 2016

  • Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.

    Varga TV, Kurbasic A, Aine M, Eriksson P, Ali A et al.

    International journal of epidemiology 2016

  • Genome-wide association studies of quantitative glycaemic traits

    Barroso,I. and Scott,R.

    The Genetics of Type 2 Diabetes and Related Traits: Biology, Physiology and Translation 2016;63-89

  • Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

    Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A et al.

    JCI insight 2016;1;17;e88766

  • Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.

    Lotta LA, Sharp SJ, Burgess S, Perry JR, Stewart ID et al.

    JAMA 2016;316;13;1383-1391

  • The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

    Ehret GB, Ferreira T, Chasman DI, Jackson AU, Schmidt EM et al.

    Nature genetics 2016;48;10;1171-84

  • The genetic architecture of type 2 diabetes.

    Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V et al.

    Nature 2016;536;7614;41-7

  • Sugar-sweetened beverage consumption and genetic predisposition to obesity in 2 Swedish cohorts.

    Brunkwall L, Chen Y, Hindy G, Rukh G, Ericson U et al.

    The American journal of clinical nutrition 2016

  • A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.

    Scott RA, Freitag DF, Li L, Chu AY, Surendran P et al.

    Science translational medicine 2016;8;341;341ra76

  • Established BMI-associated genetic variants and their prospective associations with BMI and other cardiometabolic traits: The GLACIER Study.

    Ahmad S, Poveda A, Shungin D, Barroso I, Hallmans G et al.

    International journal of obesity (2005) 2016

  • Do Genetic Factors Modify the Relationship Between Obesity and Hypertriglyceridemia? Findings From the GLACIER and the MDC Studies.

    Ali A, Varga TV, Stojkovic IA, Schulz CA, Hallmans G et al.

    Circulation. Cardiovascular genetics 2016;9;2;162-71

  • Innate biology versus lifestyle behaviour in the aetiology of obesity and type 2 diabetes: the GLACIER Study.

    Poveda A, Koivula RW, Ahmad S, Barroso I, Hallmans G et al.

    Diabetologia 2016;59;3;462-71

  • The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.

    Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K et al.

    Genes and immunity 2016;17;1;46-51

  • A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits.

    Asimit JL, Panoutsopoulou K, Wheeler E, Berndt SI, GIANT consortium et al.

    Genetic epidemiology 2015;39;8;624-34

  • The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive Hematopoiesis and Pancreas Morphogenesis in Zebrafish.

    Bielczyk-Maczyńska E, Lam Hung L, Ferreira L, Fleischmann T, Weis F et al.

    PLoS genetics 2015;11;12;e1005677

  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

    Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R et al.

    Nature genetics 2015;47;12;1415-25

  • Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

    Kato N, Loh M, Takeuchi F, Verweij N, Wang X et al.

    Nature genetics 2015;47;11;1282-93

  • The UK10K project identifies rare variants in health and disease.

    UK10K Consortium, Walter K, Min JL, Huang J, Crooks L et al.

    Nature 2015;526;7571;82-90

  • Homozygous loss-of-function variants in European cosmopolitan and isolate populations.

    Kaiser VB, Svinti V, Prendergast JG, Chau YY, Campbell A et al.

    Human molecular genetics 2015;24;19;5464-74

  • Truncation of POC1A associated with short stature and extreme insulin resistance.

    Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A et al.

    Journal of molecular endocrinology 2015;55;2;147-58

  • Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry.

    Nettleton JA, Follis JL, Ngwa JS, Smith CE, Ahmad S et al.

    Human molecular genetics 2015;24;16;4728-38

  • Genetic studies of body mass index yield new insights for obesity biology.

    Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH et al.

    Nature 2015;518;7538;197-206

  • New genetic loci link adipose and insulin biology to body fat distribution.

    Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE et al.

    Nature 2015;518;7538;187-96

  • Conjunctival fibrosis and the innate barriers to Chlamydia trachomatis intracellular infection: a genome wide association study.

    Roberts Ch, Franklin CS, Makalo P, Joof H, Sarr I et al.

    Scientific reports 2015;5;17447

  • Rare coding variants and X-linked loci associated with age at menarche.

    Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY et al.

    Nature communications 2015;6;7756

  • Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity.

    Scott RA, Fall T, Pasko D, Barker A, Sharp SJ et al.

    Diabetes 2014;63;12;4378-87

  • Gene-Lifestyle Interactions in Complex Diseases: Design and Description of the GLACIER and VIKING Studies.

    Kurbasic A, Poveda A, Chen Y, Agren A, Engberg E et al.

    Current nutrition reports 2014;3;4;400-411

  • Genome-wide association studies of glycaemic traits: A MAGICal journey

    Florez,J.C.; and BARROSO,I.

    Frontiers in Diabetes 2014;23;42-57

  • Defining the role of common variation in the genomic and biological architecture of adult human height.

    Wood AR, Esko T, Yang J, Vedantam S, Pers TH et al.

    Nature genetics 2014;46;11;1173-86

  • Whole-exome sequencing of patients with severe disorders of insulin action

    Semple,R. and BARROSO,I.

    Frontiers in Diabetes 2014;23;87-101

  • Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.

    Pearce LR, Joe R, Doche ME, Su HW, Keogh JM et al.

    Endocrinology 2014;155;9;3219-26

  • Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

    Payne F, Colnaghi R, Rocha N, Seth A, Harris J et al.

    The Journal of clinical investigation 2014;124;9;4028-38

  • Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.

    Payne F, Lim K, Girousse A, Brown RJ, Kory N et al.

    Proceedings of the National Academy of Sciences of the United States of America 2014;111;24;8901-6

  • Common genetic variants do not associate with CAD in familial hypercholesterolemia.

    van Iperen EP, Sivapalaratnam S, Boekholdt SM, Hovingh GK, Maiwald S et al.

    European journal of human genetics : EJHG 2014;22;6;809-13

  • Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study.

    Varga TV, Sonestedt E, Shungin D, Koivula RW, Hallmans G et al.

    PLoS genetics 2014;10;6;e1004388

  • Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity.

    Dimas AS, Lagou V, Barker A, Knowles JW, Mägi R et al.

    Diabetes 2014;63;6;2158-71

  • Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study.

    Langenberg C, Sharp SJ, Franks PW, Scott RA, Deloukas P et al.

    PLoS medicine 2014;11;5;e1001647

  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

    DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium et al.

    Nature genetics 2014;46;3;234-44

  • Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.

    Blue Mountains Eye Study (BMES) and The Wellcome Trust Case Control Consortium 2 (WTCCC2)

    Human molecular genetics 2013;22;22;4653-60

  • KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.

    Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA et al.

    Cell 2013;155;4;765-77

  • Discovery and refinement of loci associated with lipid levels.

    Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S et al.

    Nature genetics 2013;45;11;1274-1283

  • Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

    Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kähler AK et al.

    Nature genetics 2013;45;10;1150-9

  • Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

    Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E et al.

    The Journal of clinical investigation 2013;123;7;3042-50

  • Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.

    Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU et al.

    PLoS genetics 2013;9;6;e1003500

  • Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.

    Tanaka T, Ngwa JS, van Rooij FJ, Zillikens MC, Wojczynski MK et al.

    The American journal of clinical nutrition 2013;97;6;1395-402

  • Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

    Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S et al.

    Nature genetics 2013;45;5;513-7

  • Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

    Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E et al.

    Nature genetics 2013;45;5;501-12

  • Large-scale association analysis identifies new risk loci for coronary artery disease.

    CARDIoGRAMplusC4D Consortium, Deloukas P, Kanoni S, Willenborg C, Farrall M et al.

    Nature genetics 2013;45;1;25-33

  • Human SH2B1 mutations are associated with maladaptive behaviors and obesity.

    Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM et al.

    The Journal of clinical investigation 2012;122;12;4732-6

  • Genomics: ENCODE explained.

    Ecker JR, Bickmore WA, Barroso I, Pritchard JK, Gilad Y and Segal E

    Nature 2012;489;7414;52-5

  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

    Scott RA, Lagou V, Welch RP, Wheeler E, Montasser ME et al.

    Nature genetics 2012;44;9;991-1005

  • Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

    Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV et al.

    Nature genetics 2012;44;9;981-90

  • Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

    Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S et al.

    Nature genetics 2012;44;8;928-33

  • A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

    Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N et al.

    Nature genetics 2012;44;6;659-69

  • Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

    Kirk J, Porter KM, Parker V, Barroso I, O'Rahilly S et al.

    Journal of inherited metabolic disease 2010;33 Suppl 3;S227-32

  • Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

    Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N et al.

    Nature genetics 2010;42;12;1077-85

  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

    Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G et al.

    Nature genetics 2010;42;11;937-48

  • Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

    Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L et al.

    Nature genetics 2010;42;11;949-60

  • Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

    Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH et al.

    Arteriosclerosis, thrombosis, and vascular biology 2010;30;11;2264-76

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height.

    Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN et al.

    Nature 2010;467;7317;832-8

  • Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.

    Fontaine-Bisson B, Renström F, Rolandsson O, MAGIC, Payne F et al.

    Diabetologia 2010;53;10;2155-62

  • Biological, clinical and population relevance of 95 loci for blood lipids.

    Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM et al.

    Nature 2010;466;7307;707-13

  • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

    Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C et al.

    Nature genetics 2010;42;7;579-89

  • The genetics of obesity: FTO leads the way.

    Fawcett KA and Barroso I

    Trends in genetics : TIG 2010;26;6;266-74

  • Analysis of TBC1D4 in patients with severe insulin resistance.

    Dash S, Langenberg C, Fawcett KA, Semple RK, Romeo S et al.

    Diabetologia 2010;53;6;1239-42

  • Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.

    Ingelsson E, Langenberg C, Hivert MF, Prokopenko I, Lyssenko V et al.

    Diabetes 2010;59;5;1266-75

  • Meta-analysis and imputation refines the association of 15q25 with smoking quantity.

    Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P et al.

    Nature genetics 2010;42;5;436-40

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD et al.

    Nature 2010;464;7289;713-20

  • Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

    Nica AC, Montgomery SB, Dimas AS, Stranger BE, Beazley C et al.

    PLoS genetics 2010;6;4;e1000895

  • Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

    Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G et al.

    Diabetes 2010;59;3;741-6

  • Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

    Perry JR, Weedon MN, Langenberg C, Jackson AU, Lyssenko V et al.

    Human molecular genetics 2010;19;3;535-44

  • Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.

    Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS et al.

    Nature genetics 2010;42;2;142-8

  • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

    Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N et al.

    Nature genetics 2010;42;2;105-16

  • Underlying genetic models of inheritance in established type 2 diabetes associations.

    Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I et al.

    American journal of epidemiology 2009;170;5;537-45

  • Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

    Southam L, Soranzo N, Montgomery SB, Frayling TM, McCarthy MI et al.

    Diabetologia 2009;52;9;1846-51

  • Common genetic variation in the melatonin receptor 1B gene (MTNR1B) is associated with decreased early-phase insulin response.

    Langenberg C, Pascoe L, Mari A, Tura A, Laakso M et al.

    Diabetologia 2009;52;8;1537-42

  • Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.

    Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK et al.

    EMBO molecular medicine 2009;1;5;280-7

  • A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

    Dash S, Sano H, Rochford JJ, Semple RK, Yeo G et al.

    Proceedings of the National Academy of Sciences of the United States of America 2009;106;23;9350-5

  • Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

    Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V et al.

    PLoS genetics 2009;5;6;e1000508

  • Genetic variation in LIN28B is associated with the timing of puberty.

    Ong KK, Elks CE, Li S, Zhao JH, Luan J et al.

    Nature genetics 2009;41;6;729-33

  • Genome-wide association study identifies eight loci associated with blood pressure.

    Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M et al.

    Nature genetics 2009;41;6;666-76

  • IRS2 variants and syndromes of severe insulin resistance.

    Bottomley WE, Soos MA, Adams C, Guran T, Howlett TA et al.

    Diabetologia 2009;52;6;1208-11

  • Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.

    Renström F, Payne F, Nordström A, Brito EC, Rolandsson O et al.

    Human molecular genetics 2009;18;8;1489-96

  • Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

    Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB et al.

    PLoS genetics 2009;5;4;e1000445

  • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

    Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM et al.

    Nature genetics 2009;41;1;25-34

  • Variants in MTNR1B influence fasting glucose levels.

    Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N et al.

    Nature genetics 2009;41;1;77-81

  • Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.

    Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J et al.

    Diabetes 2008;57;11;3161-5

  • The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals.

    Vimaleswaran KS, Luan J, Andersen G, Muller YL, Wheeler E et al.

    Journal of applied physiology (Bethesda, Md. : 1985) 2008;105;4;1352-8

  • Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations.

    Fawcett KA, Grimsey N, Loos RJ, Wheeler E, Daly A et al.

    Diabetes 2008;57;9;2527-33

  • Common variants near MC4R are associated with fat mass, weight and risk of obesity.

    Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH et al.

    Nature genetics 2008;40;6;768-75

  • Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

    Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL et al.

    Nature genetics 2008;40;5;638-45

  • Genome-wide association analysis identifies 20 loci that influence adult height.

    Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM et al.

    Nature genetics 2008;40;5;575-83

  • Whole genome-amplified DNA: insights and imputation.

    Teo YY, Inouye M, Small KS, Fry AE, Potter SC et al.

    Nature methods 2008;5;4;279-80

  • Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.

    Vimaleswaran KS, Franks PW, Barroso I, Brage S, Ekelund U et al.

    American journal of hypertension 2008;21;3;297-302

  • Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.

    Franks PW, Rolandsson O, Debenham SL, Fawcett KA, Payne F et al.

    Diabetologia 2008;51;3;458-63

  • Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.

    Florez JC, Jablonski KA, McAteer J, Sandhu MS, Wareham NJ et al.

    Diabetologia 2008;51;3;451-7

  • LDL-cholesterol concentrations: a genome-wide association study.

    Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K et al.

    Lancet (London, England) 2008;371;9611;483-91

  • Mendelian randomisation studies of type 2 diabetes: future prospects.

    Sandhu MS, Debenham SL, Barroso I and Loos RJ

    Diabetologia 2008;51;2;211-3

  • The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.

    Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V et al.

    Science (New York, N.Y.) 2007;318;5855;1469-72

  • The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals.

    Young EH, Wareham NJ, Farooqi S, Hinney A, Hebebrand J et al.

    International journal of obesity (2005) 2007;31;9;1437-41

  • Common variants in WFS1 confer risk of type 2 diabetes.

    Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL et al.

    Nature genetics 2007;39;8;951-3

  • TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population.

    Loos RJ, Franks PW, Francis RW, Barroso I, Gribble FM et al.

    Diabetes 2007;56;7;1943-7

  • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

    Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM et al.

    Science (New York, N.Y.) 2007;316;5826;889-94

  • Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations.

    Collins SC, Luan J, Thompson AJ, Daly A, Semple RK et al.

    Diabetologia 2007;50;3;555-62

  • Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.

    Tan K, Kimber WA, Luan J, Soos MA, Semple RK et al.

    Diabetes 2007;56;3;714-9

  • Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.

    Mesa JL, Loos RJ, Franks PW, Ong KK, Luan J et al.

    Diabetes 2007;56;3;884-9

  • PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.

    Franks PW, Ekelund U, Brage S, Luan J, Schafer AJ et al.

    Diabetologia 2007;50;3;569-73

  • Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

    Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G et al.

    The New England journal of medicine 2007;356;3;237-47

  • Comment on "A common genetic variant is associated with adult and childhood obesity".

    Loos RJ, Barroso I, O'rahilly S and Wareham NJ

    Science (New York, N.Y.) 2007;315;5809;187; author reply 187

  • PARL Leu262Val is not associated with fasting insulin levels in UK populations.

    Fawcett KA, Wareham NJ, Luan J, Syddall H, Cooper C et al.

    Diabetologia 2006;49;11;2649-52

  • Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes.

    Harding AH, Loos RJ, Luan J, O'Rahilly S, Wareham NJ and Barroso I

    Diabetologia 2006;49;11;2642-8

  • Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.

    Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D et al.

    Cell metabolism 2006;4;4;303-11

  • The Genetics of Type 2 Diabetes

    Stevenson,C., Barroso,I. and Wareham,N.;

    Nutritional Genomics: Impact on Health and Disease 2006;Chapter 13;222-65

  • Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes.

    Barroso I, Luan J, Sandhu MS, Franks PW, Crowley V et al.

    Diabetologia 2006;49;3;501-5

  • Complex disease: pleiotropic gene effects in obesity and type 2 diabetes.

    Barroso I

    European journal of human genetics : EJHG 2005;13;12;1243-4

  • Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.

    Franks PW, Luan J, Barroso I, Brage S, Gonzalez Sanchez JL et al.

    Diabetes 2005;54;9;2795-801

  • PPARGC1A genotype (Gly482Ser) predicts exceptional endurance capacity in European men.

    Lucia A, Gómez-Gallego F, Barroso I, Rabadán M, Bandrés F et al.

    Journal of applied physiology (Bethesda, Md. : 1985) 2005;99;1;344-8

  • Differentiating campomelic dysplasia from Cumming syndrome.

    Watiker V, Lachman RS, Wilcox WR, Barroso I, Schafer AJ and Scherer G

    American journal of medical genetics. Part A 2005;135;1;110-2

  • Genetics of Type 2 diabetes.

    Barroso I

    Diabetic medicine : a journal of the British Diabetic Association 2005;22;5;517-35

  • Genetic factors in type 2 diabetes: the end of the beginning?

    O'Rahilly S, Barroso I and Wareham NJ

    Science (New York, N.Y.) 2005;307;5708;370-3

  • A family with severe insulin resistance and diabetes due to a mutation in AKT2.

    George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S et al.

    Science (New York, N.Y.) 2004;304;5675;1325-8

  • Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.

    Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW et al.

    PLoS biology 2003;1;1;E20

  • Digenic inheritance of severe insulin resistance in a human pedigree.

    Savage DB, Agostini M, Barroso I, Gurnell M, Luan J et al.

    Nature genetics 2002;31;4;379-84

  • Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.

    Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW et al.

    Nature 1999;402;6764;880-3

Barroso, Inês