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Research Interests

Marina Ciullo’s research interests are to identify genetic variants influencing complex phenotypes and to clarify how these variations affect gene function. To do that the laboratory focuses on genetic studies of some isolated populations located in the Cilento region for which an extensive phenotype characterization as well as whole-genome genotyping and sequence-based data are available. Indeed, because of small number of founders and genetic drift, isolated populations represent a powerful strategy for the discovery of low-frequency and rare variants involved in complex traits. Through the use of different isolated populations, deriving from diverse progenitors and sharing well defined environments and life habits, we try to elucidate the genetics of the complex phenotypes caused by the interaction of multiple genes and the environment.


Genetic Park of Cilento and Vallo di Diano Project:

Short CV


    • 2003 Ph.D. Biology, University of Paris (Paris XI), France
    • 1993 Degree in Biological Sciences “magna cum laude”, University of Naples, Italy

Research appointments

  • 2010-present Research Scientist at Institute of Genetics and Biophysics “A. Buzzati-Traverso” (IGB-ABT), CNR, Naples, Italy
  • 2007-present Group leader of Genetics of Complex Traits Lab at IGB-ABT, CNR
  • 2006-2009 CNR Research Scientist (temporary position) at IGB-ABT, CNR
  • 2004-2006 Visiting Researcher (European Science Foundation fellow, Foreign Office fellow) at INSERM U535 « Génétique Epidémiologique et Structure des Populations Humaines » Villejuif, France
  • 2002-2006 Post-doc position in the Dr. M. Persico lab at IGB-ABT, CNR
  • 1999-2002 PhD student in the Dr. D. Piatier-Tonneau lab at the Unité de Génomique Fonctionnelle Biologie Systémique pour la Santé-CNRS, Villejuif, France


  • Member of the Steering Committee in International Consortia for genome-wide association studies such as VEGF Consortium, CKD-Gen Consortium, Genetic of Personality Consortium, CHARGE Consortium, KinGen Consortium, EchoGen Consortium, ReproGen Consortium.
  • Member of the Scientific Committee for the yearly “Graziella Persico” Lecture and Travel award
  • Member of the Scientific Committee of the 4th International Meeting on Genetics of Complex Diseases and Isolated Populations, June 2009 Trieste
Selected Publications
  • Choi SH, Ruggiero D, Sorice R, Song C, Nutile T, Vernon Smith A, Concas MP, Traglia M, Barbieri C, Ndiaye NC, Stathopoulou MG, Lagou V, Maestrale GB, Sala C, Debette S, Kovacs P, Lind L, Lamont J, Fitzgerald P, Tönjes A, Gudnason V, Toniolo D, Pirastu M, Bellenguez C, Vasan RS, Ingelsson E, Leutenegger AL, Johnson AD, DeStefano AL, Visvikis-Siest S, Seshadri S, Ciullo M. Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PLoS Genetics 2016 Feb 24;12(2):e1005874.
  • Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, et al. (including Ciullo M). Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016 Jan 21;7:10023.
  • Day FR, Ruth KS, Thompson DJ, Lunetta KL, et al. (including Ciullo M). Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genetics 2015 Sep 28. doi: 10.1038/ng.3412
  • Kato N, Loh M, Takeuchi F, Verweij N, Wang X, et al. (including Ciullo M). Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. Nat Genetics 2015 Sep 21.
  • Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T et al. (including Ciullo M) Directional dominance on stature and cognition in diverse human populations.- Nature 2015 July 1.
  • Genetics of personality consortium, et al (including Ciullo M). Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. JAMA Psychiatry. 2015 Jul 1;72(7):642-50.
  • Daniela Ruggiero, Stefania Nappo, Teresa Nutile, Rossella Sorice, Francesco Talotta, Emilia Giorgio, Celine Bellenguez, Anne-Louise Leutenegger, Giovanna L. Liguori, Marina Ciullo. Genetic Variants modulating CRIPTO Serum Levels identified by Genome-Wide Association Study in Cilento Isolates. PloS Genetics. 2015 Jan 28;11(1):e1004976. doi: 10.1371/journal.pgen.1004976. eCollection 2015 Jan.
  • Montagnese C, Nutile T, Marphatia AA, Grijalva-Eternod CS, Siervo M, Ciullo M*, Wells JC. Body composition, leg length and blood pressure in a rural Italian population: A test of the capacity-load model. Nutr Metab Cardiovasc Dis. 2014 May 28. pii: S0939-4753(14)00169-0. doi: 10.1016/j.numecd.2014.05.006. [Epub ahead of print] *corresponding author
  • Köttgen, E. Albrecht, A. Teumer, V. Vitart, J. Krumsiek, C. Hundertmark, G. Pistis, D. Ruggiero, C.M O’Seaghdha, T. Haller et al (including M. Ciullo as co-last author) Genome-Wide Association Analyses Identify 18 New Loci Associated With Serum Urate. Nat Genetics 2013 Feb;45(2):145-54. doi: 10.1038/ng.2500. Epub 2012 Dec 23
  • P. van der Harst, W. Zhang, I. V Mateo Leach, J. Sehmi, N. Verweij, D. S Paul, A. Rendon, H. Allayee, X. Li, A. Radhakrishnan, S.-T. Tan, C. A Albers, A. Al-Hussani, F.W Asselbergs, M. Ciullo et al. 75 genetic loci influencing the human red blood cell. Nature. 2012 Dec 20;492(7429):369-75. doi: 10.1038/nature11677. Epub 2012 Dec 5.
  • Collaborations
    • Dr Anne-Louise Leutenegger INSERM, Paris, France
    • Dr. Celine Bellenguez  INSERM, Lille, France;
    • Dr. Ettore Mosca and Dr. Luciano Milanesi, ITB-CNR, Milan, Italy
    • Prof. Sudha Seshadri, Boston University School of Medicine, Boston, USA
    • Dr. Sophie Visvikis-Siest, INSERM, Nancy, France
    • Dr. Mario Siervo, MRC-Human Nutrition Research, Cambridge, UK;
    • Dr. Jonathan Wells, UCL Institute of Child Health, London, UK;

    Keywords: Genetic epidemiology, Complex Traits, Founder Populations

    Marina Ciullo

    CNR Researcher (Ricercatore)

    +39 081 6132251

    Staff Members:

    Pasqualina Cennamo
    PhD Student (Dottorando)

    Daniela Ruggiero
    Fellow (Borsista)