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Cambridge Cardiovascular



Human complex trait genomics and genetics

I use genetic analysis of high-dimensional phenotypic and genetic datasets to unravel genetic predisposition to quantitative traits that are risk factors for cardiometabolic diseases - principally coronary artery disease and type 2 diabetes. The aim of my research is to advance understanding of biologic processes underlying disease etiology addressing genetic and physiologic influences, and to explore the use of this genetic information in clinical care.


Key publications: 

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.

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Sidore C, Busonero F, Maschio A, Porcu E, Naitza S, Zoledziewska M, Mulas A, Pistis G, Steri M, Danjou F, Kwong A, Ortega Del Vecchyo VD, Chiang CW, Bragg-Gresham J, Pitzalis M, Nagaraja R, Tarrier B, Brennan C, Uzzau S, Fuchsberger C, Atzeni R, Reinier F, Berutti R, Huang J, Timpson NJ, Toniolo D, Gasparini P, Malerba G, Dedoussis G, Zeggini E, Soranzo N, Jones C, Lyons R, Angius A, Kang HM, Novembre J, Sanna S, Schlessinger D, Cucca F, Abecasis GR. Nat Genet. 2015 Sep 14.

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. Yang J, Bakshi A, Zhu Z, Hemani G, Vinkhuyzen AA, Lee SH, Robinson MR, Perry JR, Nolte IM, van Vliet-Ostaptchouk JV, Snieder H; LifeLines Cohort Study, Esko T, Milani L, Mägi R, Metspalu A, Hamsten A, Magnusson PK, Pedersen NL, Ingelsson E, Soranzo N, Keller MC, Wray NR, Goddard ME, Visscher PM. Nat Genet. 2015 Oct;47(10):1114-20.

An interactive genome browser of association results from the UK10K cohorts project. Geihs M, Yan Y, Walter K, Huang J, Memari Y, Min JL, Mead D; UK10K Consortium, Hubbard TJ, Timpson NJ, Down TA, Soranzo N. Bioinformatics. 2015 Aug 26.

Alterations of a Cellular Cholesterol Metabolism Network Are a Molecular Feature of Obesity-Related Type 2 Diabetes and Cardiovascular Disease. Ding J, Reynolds LM, Zeller T, Müller C, Lohman K, Nicklas BJ, Kritchevsky SB, Huang Z, de la Fuente A, Soranzo N, Settlage RE, Chuang CC, Howard T, Xu N, Goodarzi MO, Chen YD, Rotter JI, Siscovick DS, Parks JS, Murphy S, Jacobs DR Jr, Post W, Tracy RP, Wild PS, Blankenberg S, Hoeschele I, Herrington D, McCall CE, Liu Y. Diabetes. 2015 Oct;64(10):3464-74.

Metabolomic identification of a novel pathway of blood pressure regulation involving hexadecanedioate. Menni C, Graham D, Kastenmüller G, Alharbi NH, Alsanosi SM, McBride M, Mangino M, Titcombe P, Shin SY, Psatha M, Geisendorfer T, Huber A, Peters A, Wang-Sattler R, Xu T, Brosnan MJ, Trimmer J, Reichel C, Mohney RP, Soranzo N, Edwards MH, Cooper C, Church AC, Suhre K, Gieger C, Dominiczak AF, Spector TD, Padmanabhan S, Valdes AM. Hypertension. 2015 Aug;66(2):422-9.

Nonadditive Effects of Genes in Human Metabolomics. Tsepilov YA, Shin SY, Soranzo N, Spector TD, Prehn C, Adamski J, Kastenmüller G, Wang-Sattler R, Strauch K, Gieger C, Aulchenko YS, Ried JS. Genetics. 2015 Jul;200(3):707-18.

MultiMeta: an R package for meta-analyzing multi-phenotype genome-wide association studies. Vuckovic D, Gasparini P, Soranzo N, Iotchkova V. Bioinformatics. 2015 Aug 15;31(16):2754-6.

Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis. Interleukin 1 Genetics Consortium. Lancet Diabetes Endocrinol. 2015 Apr;3(4):243-53.

More publications can be found through PubMed.

Professor of Human Genetics
Group Leader (Sanger Institute)
Professor Nicole  Soranzo
Not available for consultancy