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Overview

Dr Marta Futema

Lecturer in Cardiovascular Science
Researching genetic causes of inherited cardiovascular diseases
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Overview

Marta Futema is Lecturer in Cardiovascular Science at the Cardiology Research Centre at St George’s, University of London. Her research overarches genetics, bioinformatics and functional genomics approaches to understand causes of inherited cardiovascular diseases. She has a strong focus on genetic aetiology of Familial Hypercholesterolaemia (FH), from rare variants to polygenic risk scores. Her work has had an impact on the UK clinical guidelines on FH, the NICE Guidelines.

Dr Futema qualified in Medical Biotechnology from University of East London, followed by PhD in Cardiovascular Genetics from UCL Genetics Institute, University College London. She held two postdoctoral positions at UCL before taking up the independent research post at St George’s, in 2021. She remains as an honorary Senior Research Fellow at UCL.

Marta contributes to postgraduate teaching at St George’s, UCL and Queen Mary University of London, which includes supervision of PhD students. She is the module leader for Cardiovascular Genetics and Genomics (MSc Genomic Medicine (SGUL-KCL)).

List of publications:

My Google Scholar profile: https://scholar.google.com/citations?user=_SdMtWgAAAAJ&hl=en

Current h-index (Google Scholar) = 28; i10-index = 44

 

  1. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius OB Jacobsen, Gavin Arno, Elijah R Behr, Katherine A Benson, Marta Bertoli, Detlef Bockenhauer, Michael R Bowl, Kate Burley, Li F Chan, Patrick Chinnery, Peter Conlon, Marcos Costa, Alice E Davidson, Sally J Dawson, Elhussein Elhassan, Sarah E Flanagan, Marta Futema, Daniel P Gale, Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin, Sophie Hambleton, Amy R Hicks, Henry Houlden, Richard S Houlston, Sarah A Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Liskova, Hannah Mitchison, Heba Morsy, Andrew D Mumford, William G Newman, Ruxandra Neatu, Edel A O’Toole, Albert CM Ong, Alistair T Pagnamenta, Shamima Rahman, Neil Rajan, Peter N Robinson, Mina Ryten, Omid Sadeghi-Alavijeh, John A Sayer, Claire L Shovlin, Jenny C Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M van Eerde, James S Ware, Laura M Watts, Andrew R Webster, Sarah K Westbury, Sean L Zheng, Mark Caulfield, Damian Smedley

medRxiv 2023.12.20.23300294; doi: https://doi.org/10.1101/2023.12.20.23300294

 

  1. RYR2 variant identified in dilated cardiomyopathy and sudden death: results from the 100,000 Genomes Project

Ben-Haim Y, Bird M, Johnson D, Mohiddin S, Favaloro L, Dyrberg Andersen J, Sheppard MN, Pittman A, Futema M, Behr ER

JACC 2024 in press

 

  1. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration.

Lancet 2023 Dec 12:S0140-6736(23)01842-1.

 

  1. Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank

Gratton J, Humphries SE, Schmidt AF, Patel R, Sofat R, Finan C, Morris J, Hingorani AD, Futema M

BMJ Public Health 2023;1:e000021.

 

  1. Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank

Gratton J, Humphries SE and Futema M

Arterioscler Thromb Vasc Biol. 2023 Sep;43(9):1737-1742

 

  1. UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

Thompson DJ, Wells D, Selzam S, Peneva I, Moore R, Sharp K, Tarran WA, Beard EJ, Riveros-Mckay F, Palmer D, Seth P, Harrison J, Futema M, Genomics England Research Consortium, McVean G, Plagnol V, Donnelly P, Weale ME

medRxiv 2022.06.16.22276246; doi: https://doi.org/10.1101/2022.06.16.22276246

 

  1. A machine learning model to aid detection of familial hypercholesterolaemia

Gratton J, Futema M, Humphries SE, Hingorani AD, Finan C, Schmidt AF

JACC: Adv. 2023 Jun 2;4

 

  1. LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.

Gratton J, Finan C, Hingorani AD, Humphries SE, Futema M

Front Genet. 2022 Mar 31;13:845498

My CRediT: Conceptualization, Writing – Review & Editing, Supervision

 

  1. Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.

Zanoni P, Panteloglou G, Othman A, Haas JT, Meier R, Rimbert A, Futema M, Abou Khalil Y, Norrelykke SF, Rzepiela AJ, Stoma S, Stebler M, van Dijk F, Wijers M, Wolters JC, Dalila N, Huijkman NCA, Smit M, Gallo A, Carreau V, Philippi A, Rabès JP, Boileau C, Visentin M, Vonghia L, Weyler J, Francque S, Verrijken A, Verhaegen A, Van Gaal L, van der Graaf A, van Rosmalen BV, Robert J, Velagapudi S, Yalcinkaya M, Keel M, Radosavljevic S, Geier A, Tybjaerg-Hansen A, Varret M, Rohrer L, Humphries SE, Staels B, van de Sluis B, Kuivenhoven JA, von Eckardstein A.

Circ Res. 2022 Jan 7;130(1):80-95

My CRediT: Formal Analysis, Investigation, Writing – Review & Editing

  1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM.

Eur Heart J. 2021 Aug 21;42(32):3063-3073

My CRediT: Methodology, Formal Analysis, Visualisation, Writing – Review & Editing

  1. Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.

Lopes LR, Murphy D, Bugiardini E, Salem R, Jager J, Futema M, Majid Akhtar M, Savvatis K, Woodward C, Pittman AM, Hanna MG, Syrris P, Pitceathly RDS, Elliott PM.

Circ Genom Precis Med. 2021 Jun;14(3):e003388

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Futema M, Ramaswami U, Tichy L, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, De Leener A, Fastre E, Vrablik M, Freiberger T, Esterbauer H, Dieplinger H, Greber-Platzer S, Medeiros AM, Bourbon M, Mollaki V, Drogari E, Humphries SE.

Atherosclerosis. 2021 Feb;319:108-117

My CRediT: Conceptualization, Formal Analysis, Data Curation, Visualisation, Writing – Original Draft Preparation, Supervision

  1. The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.

Protonotarios A, Brodehl A, Asimaki A, Jager J, Quinn E, Stanasiuk C, Ratnavadivel S, Futema M, Akhtar MM, Gossios TD, Ashworth M, Savvatis K, Walhorn V, Anselmetti D, Elliott PM, Syrris P, Milting H, Lopes LR.

Can J Cardiol. 2021 Jun;37(6):857-866

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Mickiewicz A, Futema M, Ćwiklinska A, Kuchta A, Jankowski M, Kaszubowski M, Chmara M, Wasąg B, Fijałkowski M, Jaguszewski M, Humphries SE, Gruchała M.

Life (Basel). 2020 May 20;10(5):73

My CRediT: Methodology, Formal Analysis, Writing – Review & Editing

  1. Cryptic Splice-Altering Variants in MYBPC3Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

Lopes LR, Barbosa P, Torrado M, Quinn E, Merino A, Ochoa JP, Jager J, Futema M, Carmo-Fonseca M, Monserrat L, Syrris P, Elliott PM.

Circ Genom Precis Med. 2020 Jun;13(3):e002905

My CRediT: Formal Analysis, Writing – Review & Editing

  1. The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.

Mariano C, Alves AC, Medeiros AM, Chora JR, Antunes M, Futema M, Humphries SE, Bourbon M.

Clin Genet. 2020 Mar;97(3):457-466

My CRediT: Formal Analysis, Writing – Review & Editing

  1. RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.

Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suárez MP, Aguilera B, Molina P, Zorio E, Coarfa C, Robertson MJ, Cheedipudi SM, Ng KE, Delaney P, Hernández JP, Pastor F, Gimeno JR, McKenna WJ, Marian AJ, Syrris P.

Int J Cardiol. 2020 Mar 1;302:124-130

My CRediT: Methodology, Formal Analysis, Writing – Review & Editing

  1. Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Ramaswami U, Futema M, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, Vrablik M, Freiberger T, Dieplinger H, Greber-Platzer S, Hanauer-Mader G, Bourbon M, Drogari E, Humphries SE.

Atherosclerosis. 2020 Jan;292:178-187

My CRediT: Methodology, Formal Analysis, Visualisation, Writing – Original Draft Preparation

  1. Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.

Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ.

Int J Cardiol. 2020 May 15;307:101-108

My CRediT: Methodology, Formal Analysis, Writing – Review & Editing

  1. Prevalence of TTRvariants detected by whole-exome sequencing in hypertrophic cardiomyopathy.

Lopes LR, Futema M, Akhtar MM, Lorenzini M, Pittman A, Syrris P, Elliott PM.

Amyloid. 2019 Dec;26(4):243-247

My CRediT: Methodology, Formal Analysis, Writing – Review & Editing

  1. Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.

Hall CL, Sutanto H, Dalageorgou C, McKenna WJ, Syrris P and Futema M

Eur J Hum Genet. 2018 Sep;26(9):1312-1318

My CRediT: Conceptualization, Writing – Review & Editing, Supervision

  1. The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Fairoozy RH, Futema M, Vakili R, Abbaszadegan MR, Hosseini S, Aminzadeh M, Zaeri H, Mobini M, Humphries SE, Sahebkar A.

Sci Rep. 2017 Dec 6;7(1):17087

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Sharifi M, Higginson E, Bos S, Gallivan A, Harvey D, Li KW, Abeysekera A, Haddon A, Ashby H, Shipman KE, Cooper JA, Futema M, Roeters van Lennep JE, Sijbrands EJG, Labib M, Nair D, Humphries SE.

Atherosclerosis. 2017 Aug;263:405-411

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Futema M, Cooper JA, Charakida M, Boustred C, Sattar N, Deanfield J, Lawlor DA, Timpson NJ; UK10K Consortium, Humphries SE, Hingorani AD.

Atherosclerosis. 2017 May;260:47-55

My CRediT: Formal analysis, Investigation, Data Curation, Writing – Original Draft Preparation, Visualisation

  1. Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Durst R, Ibe UK, Shpitzen S, Schurr D, Eliav O, Futema M, Whittall R, Szalat A, Meiner V, Knobler H, Gavish D, Henkin Y, Ellis A, Rubinstein A, Harats D, Bitzur R, Hershkovitz B, Humphries SE, Leitersdorf E.

Atherosclerosis. 2017 Feb;257:55-63

My CRediT: Formal Analysis, Writing – Review & Editing

  1. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT, Humphries SE.

J Med Genet. 2017 Apr;54(4):217-223

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.

Mickiewicz A, Chmara M, Futema M, Fijalkowski M, Chlebus K, Galaska R, Bandurski T, Pajkowski M, Zuk M, Wasag B, Limon J, Rynkiewicz A, Gruchala M.

Atherosclerosis. 2016 Jun;249:52-8

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

ArulJothi KN, Whitthall RA, Futema M, Humphries SE, George M, Elangovan S, Nair DR, Devi A.

Clin Biochem. 2016 Jun;49(9):669-674

My CRediT: Formal Analysis, Writing – Review & Editing

  1. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Sharifi M, Walus-Miarka M, Idzior-Waluś B, Malecki MT, Sanak M, Whittall R, Li KW, Futema M, Humphries SE.

Metabolism. 2016 Mar;65(3):48-53

My CRediT: Formal Analysis, Writing – Review & Editing

  1. Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S.

Hum Mutat. 2016 Apr;37(4):364-70

My CRediT: Formal Analysis, Writing – Review & Editing

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

UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.

Nature. 2015 Oct 1;526(7571):82-90

My CRediT: Formal Analysis, Investigation, Writing – Review & Editing

  1. Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia? 

Futema M, Kumari M, Boustred C, Kivimaki M, Humphries SE.Atherosclerosis. 2015 Apr;239(2):295-8

My CRediT: Conceptualization, Formal analysis, Investigation, Data Curation, Writing – Original Draft Preparation, Visualisation

  1. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE.

Clin Chem. 2015 Jan;61(1):231-8

My CRediT: Conceptualization, Formal analysis, Investigation, Data Curation, Writing – Original Draft Preparation, Visualisation

  1. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N, UK10K Consortium Members

Nat Commun. 2014 Sep 16;5:4871

My CRediT: Formal Analysis, Visualisation, Writing – Review & Editing

  1. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M; Simon Broome Consortium, Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, Lench N, Nair DR, Soran H, Van Bockxmeer FM; UK10K Consortium, Humphries SE.

J Med Genet. 2014 Aug;51(8):537-44

My CRediT: Formal analysis, Investigation, Data Curation, Writing – Original Draft Preparation, Visualisation

  1. Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Futema M, Whittall RA, Kiley A, Steel LK, Cooper JA, Badmus E, Leigh SE, Karpe F, Neil HA; Simon Broome Register Group, Humphries SE.

Atherosclerosis. 2013 Jul;229(1):161-8

My CRediT: Methodology, Formal Analysis, Investigation, Data Curation, Writing – Original Draft Preparation

  1. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. 

Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE.

Lancet. 2013 Apr 13;381(9874):1293-301

My CRediT: Methodology, Formal Analysis, Investigation, Data Curation, Writing – Review & Editing

  1. Mutation detection in Croatian patients with familial hypercholesterolemia.

Pećin I, Whittall R, Futema M, Sertić J, Reiner Z, Leigh SE, Humphries SE. Ann Hum Genet. 2013 Jan;77(1):22-30

My CRediT: Methodology, Formal Analysis, Investigation

  1. Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Futema M, Plagnol V, Whittall RA, Neil HA; Simon Broome Register Group, Humphries SE; UK10K.

J Med Genet. 2012 Oct;49(10):644-9

My CRediT: Formal analysis, Investigation, Data Curation, Writing – Original Draft Preparation, Visualisation

 

REVIEWS:

  1. Genetic testing for familial hypercholesterolemia-past, present, and future.

Futema M*, Taylor-Beadling A, Williams M, Humphries SE.

J Lipid Res. 2021;62:100139

My CRediT: This is a review article, Writing – Original Draft Preparation

 

  1. Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Sharifi M, Futema M*, Nair D, Humphries SE.

Curr Cardiol Rep. 2019 Apr 22;21(6):43

My CRediT: This is a review article, Writing – Original Draft Preparation

  1. Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.

Futema M*, Bourbon M, Williams M, Humphries SE.

Atherosclerosis. 2018 Oct;277:457-463

My CRediT: This is a review article, Writing – Original Draft Preparation

 

  1. Genetic Architecture of Familial Hypercholesterolaemia.

Sharifi M, Futema M*, Nair D, Humphries SE.

Curr Cardiol Rep. 2017 May;19(5):44

My CRediT: This is a review article, Writing – Original Draft Preparation

 

  1. Child-Parent Familial Hypercholesterolemia Screening in Primary Care.

Hingorani AD, Futema M*, Humphries S.

N Engl J Med. 2017 Feb 2;376(5):499

My CRediT: This is a letter to the editor, Writing – Original Draft Preparation

 

  1. Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH).

Pears R, Griffin M, Futema M*, Humphries SE.

Curr Opin Lipidol (2015 Jun;26(3):162-8)

My CRediT: This is a review article, Writing – Original Draft Preparation

  1. The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.

Talmud PJ, Futema M*, Humphries SE.

Curr Opin Lipidol. 2014 Aug;25(4):274-81

My CRediT: This is a review article, Writing – Original Draft Preparation

AS A COLLABORATOR:

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N. ‘Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel’. Nat Commun. (2015 Sep 14;6:8111)

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