Publications: Dr Eirini Marouli

Papadopoulou A, Litkowski EM, Graff M, Wang Z, Smit RAJ, Chittoor G, Dinsmore I, Josyula NS et al. ( 2025 ) . Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height . npj Genomic Medicine vol. 10 , ( 1 )

Dee W, Ibrahim RA, Marouli E ( 2024 ) . Histopathological domain adaptation with generative adversarial networks: Bridging the domain gap between thyroid cancer histopathology datasets . PLOS ONE vol. 19 , ( 12 )

Richard D, Muthuirulan P, Young M, Yengo L, Vedantam S, Marouli E, Bartell E, Consortium G et al. ( 2024 ) . Functional genomics of human skeletal development and the patterning of height heritability . Cell vol. 188 , ( 1 ) 15 - 32.e24 .

Ellervik C, Boulakh L, Teumer A, Marouli E, Kuś A, Hesgaard HB, Heegaard S, Blankers L et al. ( 2024 ) . Thyroid Function, Diabetes, and Common Age-Related Eye Diseases: A Mendelian Randomization Study . Thyroid vol. 34 , ( 11 ) 1414 - 1423 .

Papadopoulou A, Harding D, Slabaugh G, Marouli E, Deloukas P ( 2024 ) . Prediction of atrial fibrillation and stroke using machine learning models in UK Biobank . Heliyon vol. 10 , ( 7 )

Babajide O, Kjaergaard AD, Deng W, Kuś A, Sterenborg RBTM, Åsvold BO, Burgess S, Teumer A et al. ( 2024 ) . The role of thyroid function in borderline personality disorder and schizophrenia: a Mendelian Randomisation study . Borderline Personality Disorder and Emotion Dysregulation vol. 11 , ( 1 )

Sterenborg RBTM, Steinbrenner I, Li Y, Bujnis MN, Naito T, Marouli E, Galesloot TE, Babajide O et al. ( 2024 ) . Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications . Nature Communications vol. 15 , ( 1 )

Slabaugh G, Beltran L, Rizvi H, Deloukas P, Marouli E ( 2023 ) . Applications of machine and deep learning to thyroid cytology and histopathology: a review . Frontiers in Oncology vol. 13 ,

Papadopoulou A, Åsvold BO, Burgess S, Kuś A, Medici M, Sterenborg R, Teumer A, Deloukas P et al. ( 2023 ) . Height, Autoimmune Thyroid Disease, and Thyroid Cancer: A Mendelian Randomization Study . Thyroid vol. 33 , ( 12 ) 1476 - 1482 .

Willems SM, Ng NHJ, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G et al. ( 2023 ) . Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization . Wellcome Open Research vol. 8 ,

Willems SM, Ng NHJ, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G et al. ( 2023 ) . Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization . Wellcome open research vol. 8 ,

Hawkes G, Yengo L, Vedantam S, Marouli E, Beaumont RN, Consortium TG, Tyrrell J, Weedon MN et al. ( 2023 ) . Identification and analysis of individuals who deviate from their genetically-predicted phenotype . PLOS Genetics vol. 19 , ( 9 )

L Y, S V, E M, J S, E B, S S, M G, AU E et al. ( 2023 ) . A saturated map of common genetic variants associated with human height .

Kanai M, Andrews SJ, Cordioli M, Stevens C, Neale BM, Daly M, Ganna A, Chwialkowska K et al. ( 2023 ) . A second update on mapping the human genetic architecture of COVID-19 . Nature vol. 621 , ( 7977 ) e7 - e26 .

Sterenborg R, Steinbrenner I, Li Y, Bujnis M, Naito T, Marouli E, Consortium T, Kottgen A et al. ( 2023 ) . Multi-Trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications . Endocrine Abstracts

Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2023 ) . Author Correction: The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 618 , ( 7965 ) e19 - e20 .

Baronas JM, Bartell E, Eliasen A, Doench JG, Yengo L, Vedantam S, Marouli E, Consortium G et al. ( 2023 ) . Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci . Cell Genomics vol. 3 , ( 5 )

Kafyra M, Kalafati IP, Dimitriou M, Grigoriou E, Kokkinos A, Rallidis L, Kolovou G, Trovas G et al. ( 2023 ) . Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults . Journal of Personalized Medicine vol. 13 , ( 2 )

Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF et al. ( 2022 ) . Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis . Genome Biology vol. 23 , ( 1 )

Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU et al. ( 2022 ) . A saturated map of common genetic variants associated with human height . Nature vol. 610 , ( 7933 ) 704 - 712 .

Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL et al. ( 2022 ) . A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids . American Journal of Human Genetics vol. 109 , ( 8 ) 1366 - 1387 .

Raghavan S, Huang J, Tcheandjieu C, Huffman JE, Litkowski E, Liu C, Ho Y-LA, Hunter-Zinck H et al. ( 2022 ) . A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program . PLOS Genetics vol. 18 , ( 6 )

Wielscher M, Mandaviya PR, Kuehnel B, Joehanes R, Mustafa R, Robinson O, Zhang Y, Bodinier B et al. ( 2022 ) . DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases . Nature Communications vol. 13 , ( 1 )

Kjaergaard AD, Teumer A, Marouli E, Deloukas P, Kuś A, Sterenborg R, Åsvold BO, Medici M et al. ( 2022 ) . Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study . Human Molecular Genetics vol. 31 , ( 15 ) 2548 - 2559 .

Hawe JS, Wilson R, Schmid KT, Zhou L, Lakshmanan LN, Lehne BC, Kühnel B, Scott WR et al. ( 2022 ) . Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function . Nature Genetics vol. 54 , ( 1 ) 18 - 29 .

Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2021 ) . The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 600 , ( 7890 ) 675 - 679 .

Marouli E, Yusuf L, Kjaergaard AD, Omar R, Kuś A, Babajide O, Sterenborg R, Åsvold BO et al. ( 2021 ) . Thyroid Function and the Risk of Alzheimer's Disease: A Mendelian Randomization Study . Thyroid vol. 31 , ( 12 ) 1794 - 1799 .

Xie T, Gorenjak V, Stathopoulou MG, Dadé S, Marouli E, Masson C, Murray H, Lamont J et al. ( 2021 ) . Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects . BMC Medical Genomics vol. 14 , ( 1 )

Sulc J, Sonrel A, Mounier N, Auwerx C, Marouli E, Darrous L, Draganski B, Kilpeläinen TO et al. ( 2021 ) . Composite trait Mendelian randomization reveals distinct metabolic and lifestyle consequences of differences in body shape . Communications Biology vol. 4 , ( 1 )

Papadopoulou A, Musa H, Sivaganesan M, McCoy D, Deloukas P, Marouli E ( 2021 ) . COVID-19 susceptibility variants associate with blood clots, thrombophlebitis and circulatory diseases . PLoS ONE vol. 16 , ( 9 September )

van Blokland IV, Lanting P, Ori APS, Vonk JM, Warmerdam RCA, Herkert JC, Boulogne F, Claringbould A et al. ( 2021 ) . Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility . PLOS ONE vol. 16 , ( 8 )

Ellervik C, Mora S, Kuś A, Åsvold B, Marouli E, Deloukas P, Sterenborg RBTM, Teumer A et al. ( 2021 ) . Effects of Thyroid Function on Hemostasis, Coagulation, and Fibrinolysis: A Mendelian Randomization Study . Thyroid vol. 31 , ( 9 ) 1305 - 1315 .

Niemi MEK, Karjalainen J, Liao RG, Neale BM, Daly M, Ganna A, Davis L, Lee S et al. ( 2021 ) . Mapping the human genetic architecture of COVID-19 . Nature vol. 600 , ( 7889 ) 472 - 477 .

Kuś A, Kjaergaard AD, Marouli E, Del Greco MF, Sterenborg RBTM, Chaker L, Peeters RP, Bednarczuk T et al. ( 2021 ) . Thyroid Function and Mood Disorders: A Mendelian Randomization Study . Thyroid vol. 31 , ( 8 ) 1171 - 1181 .

Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V et al. ( 2021 ) . Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry . American Journal of Human Genetics vol. 108 , ( 4 ) 564 - 582 .

Mensah-Kane J, Schmidt AF, Hingorani AD, Finan C, Chen Y, van Duijvenboden S, Orini M, Lambiase PD et al. ( 2021 ) . No Clinically Relevant Effect of Heart Rate Increase and Heart Rate Recovery During Exercise on Cardiovascular Disease: A Mendelian Randomization Analysis . Frontiers in Genetics vol. 12 ,

Kjaergaard AD, Marouli E, Papadopoulou A, Deloukas P, Kuś A, Sterenborg R, Teumer A, Burgess S et al. ( 2021 ) . Thyroid function, sex hormones and sexual function: a Mendelian randomization study . European Journal of Epidemiology vol. 36 , ( 3 ) 335 - 344 .

Kuś A, Marouli E, Del Greco M. F, Chaker L, Bednarczuk T, Peeters RP, Teumer A, Medici M et al. ( 2020 ) . Variation in Normal Range Thyroid Function Affects Serum Cholesterol Levels, Blood Pressure, and Type 2 Diabetes Risk: A Mendelian Randomization Study . Thyroid vol. 31 , ( 5 ) 721 - 731 .

Marouli E, Kus A, Del Greco M F, Chaker L, Peeters R, Teumer A, Deloukas P, Medici M ( 2020 ) . Thyroid Function Affects the Risk of Stroke via Atrial Fibrillation: A Mendelian Randomization Study . The Journal of Clinical Endocrinology & Metabolism vol. 105 , ( 8 )

Ng N, Willems SM, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G et al. ( 2019 ) . Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation .

Huang T, Wang T, Zheng Y, Ellervik C, Li X, Gao M, Fang Z, Chai JF et al. ( 2019 ) . Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study . JAMA network open vol. 2 , ( 9 ) e1910915 - e1910915 .

Murphy AM, Smith CE, Murphy LM, Follis JL, Tanaka T, Richardson K, Noordam R, Lemaitre RN et al. ( 2019 ) . Potential Interplay between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome to Modulate Insulin Resistance and Diabetes Risk: Insights from a Meta-Analysis of 19 005 Individuals . Molecular Nutrition and Food Research vol. 63 , ( 22 )

Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2019 ) . Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity . Nature Genetics vol. 51 , ( 7 ) 1191 - 1192 .

Group MRODCW, Huang T, Sun D, Heianza Y, Bergholdt HK, Gao M, Fang Z, Ding M et al. ( 2019 ) . Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies . Clinical Chemistry vol. 65 , ( 6 ) 751 - 760 .

Marouli E, Del Greco MF, Astley CM, Yang J, Ahmad S, Berndt SI, Caulfield MJ, Evangelou E et al. ( 2019 ) . Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease . Communications Biology vol. 2 , ( 1 )

Marouli E, Del Greco MF, Astley CM, Yang J, Ahmad S, Berndt SI, Caulfield MJ, Evangelou E et al. ( 2019 ) . Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease . Commun Biol vol. 2 , ( 1 )

Xie T, Gorenjak V, Stathopoulou MG, Dadé S, Marouli E, Masson C, Murray H, Lamont J et al. ( 2019 ) . Epigenome-Wide Association Study (EWAS) of Blood Lipids in Healthy Population from STANISLAS Family Study (SFS) . International Journal of Molecular Sciences vol. 20 , ( 5 )

Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL et al. ( 2019 ) . Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution . Nature Genetics vol. 51 , ( 3 ) 452 - 469 .

Erzurumluoglu AM, Liu M, Jackson VE, Barnes DR, Datta G, Melbourne CA, Young R, Batini C et al. ( 2019 ) . Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci . Molecular Psychiatry vol. 25 , ( 10 ) 2392 - 2409 .

Brazel DM, Jiang Y, Hughey JM, Turcot V, Zhan X, Gong J, Batini C, Weissenkampen JD et al. ( 2018 ) . Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use . Biological Psychiatry

Hackinger S, Prins B, Mamakou V, Zengini E, Marouli E, Brčić L, Serafetinidis I, Lamnissou K et al. ( 2018 ) . Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia . Translational Psychiatry vol. 8 , ( 1 )

Murphy AM, Murphy L, Smith CE, Follis J, Tanaka T, Helminen M, Lemaitre R, Voortman T et al. ( 2017 ) . Meta‐Analysis of 19,005 Individuals Identifies Interplay Between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome, to Modulate Insulin Resistance and Diabetes Risk . The FASEB Journal . vol. 31 ,

Pulit SL, Stoneman C, Morris AP, Wood AR, Glastonbury CA, Tyrrell J, Yengo L, Ferreira T et al. ( 2018 ) . Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry . Human Molecular Genetics vol. 28 , ( 1 ) 166 - 174 .

Mamakou V, Hackinger S, Zengini E, Tsompanaki E, Marouli E, Serafetinidis I, Prins B, Karabela A et al. ( 2018 ) . Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study . BMC Psychiatry vol. 18 , ( 1 )

Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H et al. ( 2018 ) . Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes . Nature Genetics vol. 50 , ( 4 ) 559 - 571 .

Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2017 ) . Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity . Nature Genetics vol. 50 , ( 1 ) 26 - 41 .

Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2017 ) . Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity . Nat Genet vol. 50 , ( 5 ) 766 - 767 .

Marouli E, Kanoni S, Mamakou V, Hackinger S, Southam L, Prins B, Rentari A, Dimitriou M et al. ( 2017 ) . Evaluating the glucose raising effect of established loci via a genetic risk score . PLoS One vol. 12 , ( 11 ) Article 0186669 , e0186669 - e0186669 .

Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C et al. ( 2017 ) . Exome-wide association study of plasma lipids in >300,000 individuals . Nature Genetics vol. 49 , ( 12 ) 1758 - 1766 .

Nelson CP, Goel A, Butterworth AS, Kanoni S, Webb TR, Marouli E, Zeng L, Ntalla I et al. ( 2017 ) . Association analyses based on false discovery rate implicate new loci for coronary artery disease . Nature Genetics vol. 49 , ( 9 ) 1385 - 1391 .

Saleheen D, Zhao W, Young R, Nelson CP, Ho W, Ferguson JF, Rasheed A, Ou K et al. ( 2017 ) . Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions . Circulation vol. 135 , ( 24 ) 2336 - 2353 .

Webb TR, Erdmann J, Stirrups KE, Stitziel NO, Masca NGD, Jansen H, Kanoni S, Nelson CP et al. ( 2017 ) . Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease . J Am Coll Cardiol vol. 69 , ( 7 ) 823 - 836 .

Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y et al. ( 2017 ) . Rare and low-frequency coding variants alter human adult height . Nature vol. 542 , ( 7640 ) 186 - 190 .

Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C et al. ( 2016 ) . SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function . Journal of the American Society of Nephrology vol. 28 , ( 3 ) 981 - 994 .

Loley C, Alver M, Assimes TL, Bjonnes A, Goel A, Gustafsson S, Hernesniemi J, Hopewell JC et al. ( 2016 ) . No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis . Sci Rep vol. 6 , 35278 - 35278 .

MUNROE PB ( 2016 ) . Trans-ancestry meta-analyses identify novel rare and common variants associated with blood pressure and hypertension . Nature Genetics

MUNROE PB ( 2016 ) . The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals . Nature Genetics

Stitziel NO, Stirrups KE, Masca NGD, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR et al. ( 2016 ) . Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease . New England Journal of Medicine vol. 374 , ( 12 ) 1134 - 1144 .

Stitziel NO, Stirrups KE, Masca NGD, Erdmann J, Ferrario PG, Koenig IR, Weeke PE, Webb TR et al. ( 2016 ) . Coding Variation in <i>ANGPTL4</i>, <i>LPL</i>, and <i>SVEP1</i> and the Risk of Coronary Disease (vol 374, pg 1134, 2016) . NEW ENGLAND JOURNAL OF MEDICINE vol. 374 , ( 19 ) 1898 - 1898 .

Marouli E, Kanoni S, Dimitriou M, Kolovou G, Deloukas P, Dedoussis G ( 2015 ) . Lifestyle may modify the glucose-raising effect of genetic loci. A study in the Greek population . Nutrition Metabolism and Cardiovascular Diseases vol. 26 , ( 3 ) 201 - 206 .

Agiannitopoulos K, Bakalgianni A, Marouli E, Zormpa I, Manginas A, Papamenzelopoulos S, Lamnissou K ( 2015 ) . Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease . Journal of Clinical Laboratory Analysis vol. 30 , ( 3 ) 204 - 207 .

Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert M-F et al. ( 2015 ) . Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility . Nature Communications vol. 6 , ( 1 )