Professor, Senior Consultant, Principal Investigator, MD, PhD
Stefano Romeo is Professor in Molecular and Clinical Medicine at the Institute of Medicine at the Sahlgrenska Academy. He earned his Medical Degree at Campus Biomedico University in Rome in 2001, Italy and completed his residency in Endocrinology and Metabolic Disease in 2006 at Sapienza University of Rome. He moved to the Wallenberg Laboratory in 2011 after an Italian PhD fellowship carried out at the University of Texas Southwestern Medical Center (2006-2009), Dallas, USA, and a Clinical Lectureship at the University of Cambridge, UK (2009-2011).
Dr Romeo’s main research focus is the role of genetic variants in modulating serum lipid levels and metabolic liver disease. His research field ranges from genetic association studies in large cohorts to molecular genetics of human mutations.
Since 2014, he has been responsible for the Lipid Clinic at the Department of Cardiology, Sahlgrenska University Hospital. The Lipid Clinic focuses on genetic testing and treatment of severe forms of hypercholesterolemia and hypertriglyceridemia. He is also a Faculty Member of the Unit of Human Nutrition at the Department of Medical and Surgical Science, University Magna Graecia, Catanzaro, Italy.
Dr Romeo received the Knut and Alice Wallenberg Academy fellowship in Medicine in 2017, the Novo Nordisk Foundation Excellence Project for Young Researchers within Endocrinology in 2014 and the Young Investigator Award from the European Atherosclerosis Society in 2008.
Main research
My research is focused on the human genetics of lipids and insulin resistance. At the University of Texas Southwestern Medical Center, I used a resequencing approach to show how common and rare mutations in angiopoietin-like proteins affect the metabolism of circulating triglycerides. I also performed a genome wide association study on the Dallas Heart Study population, which identified the patatin-like phospholipase domain-containing 3 (PNPLA3) I148M mutation as a determinant of hepatic steatosis. To date, this is the most widely replicated genetic mutation associated with this condition.
Together with my colleagues at the University of Cambridge, UK, I observed that the PNPLA3 148M mutation is associated with elevated transaminase levels (an index of hepatic damage) in obese adult and children but not in normal weight individuals. These findings suggest that obesity modulates signals arising from the genome, and indicate that the obese state is necessary to study traits highly correlated with obesity.
My research group at the Wallenberg Laboratory focuses on the role of genetic variants in modulating metabolic traits such as serum lipid levels, insulin resistance and liver fat accumulation. Our research field ranges from genetic association studies in large cohorts (including the Swedish Obese Subjects cohort) to molecular genetics of human mutations.
Since 2014, he has been responsible for the Lipid Clinic at the Department of Cardiology, Sahlgrenska University Hospital. The Lipid Clinic focuses on genetic testing and treatment of severe forms of hypercholesterolemia and hypertriglyceridemia. He is also a Faculty Member of the Unit of Human Nutrition at the Department of Medical and Surgical Science, University Magna Graecia, Catanzaro, Italy.
Dr Romeo received the Knut and Alice Wallenberg Academy fellowship in Medicine in 2017, the Novo Nordisk Foundation Excellence Project for Young Researchers within Endocrinology in 2014 and the Young Investigator Award from the European Atherosclerosis Society in 2008.
Group Members
Laboratory Group members:
- Andrea Caddeo, PhD student
- Ester Ciociola, Postdoctoral Fellow
- Rosellina Margherita Mancina, PhD, Postdoctoral Fellow
- Piero Pingitore, PhD, Postdoctoral Fellow
- Kavitha Sasidharan, Research Assistant
Lipid Clinic:
- Carola Gustafsson, Research assistant
- Lina Håkansson, Lipid Nurse
- Carlo Pirazzi, MD, PhD, Resident in Cardiology
- Joakim Sandstedt, MD, PhD, Resident in Clinical Chemistry
Key publications
Pingitore P, Dongiovanni P, Motta BM, Meroni M, Lepore SM, Mancina RM, Pelusi S, Russo C, Caddeo A, Rossi G, Montalcini T, Pujia A, Wiklund O, Valenti L*, Romeo S*.
PNPLA3 overexpression results in reduction of proteins predisposing to fibrosis.
Hum Mol Genet doi: 10.1093/hmg/ddw341 (2016). * corresponding authors
Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S.
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
J Clin Lipidol 10(4):816-23. doi: 10.1016/j.jacl.2016.02.015. (2016)
Mancina RM, Dongiovanni P, Petta S, Pingitore P, Meroni M, Rametta R, Borén J, Montalcini T, Pujia A, Wiklund O, Hindy G, Spagnuolo R, Motta BM, Pipitone RM, Craxì A, Fargion S, Nobili V, Käkelä P, Kärjä V, Männistö V, Pihlajamäki J, Reilly DF, Castro-Perez J, Kozlitina J*, Valenti L*, Romeo S*.
The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent.
Gastroenterology 150(5):1219-1230.e6. doi: 10.1053/j.gastro.2016.01.032. (2016) * corresponding authors
Dongiovanni P, Petta S, Mannisto V, Mancina RM, Pipitone R, Karja V, Maggioni M, Kakela P, Wiklund O, Mozzi E, Grimaudo S, Kaminska D, Rametta R, Craxi A, Fargion S, Nobili V, Romeo S*, Pihlajamaki J*, Valenti L*.
Statin use and non-alcoholic steatohepatitis in at risk individuals.
J Hepatol 63(3):705-12. doi: 10.1016/j.jhep.2015.05.006. (2015) * corresponding authors
Dongiovanni P, Petta S, Maglio C, Fracanzani AL, Pipitone R, Mozzi E, Motta BM, Kaminska D, Rametta R, Grimaudo S, Pelusi S, Montalcini T, Alisi A, Maggioni M, Kärjä V, Borén J, Käkelä P, Di Marco V, Xing C, Nobili V, Dallapiccola B, Craxi A, Pihlajamäki J, Fargion S, Sjöström L, Carlsson LM, Romeo S*, Valenti L*.
Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease.
Hepatology 61(2):506-14. (2015) * corresponding authors
Maglio C, Mancina RM, Motta BM, Stef M, Pirazzi C, Palacios L, Askaryar N, Borén J, Wiklund O, Romeo S.
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
J Intern Med doi: 10.1111/joim.12263 (2014)
Pirazzi C, Valenti L, Motta BM, Pingitore P, Hedfalk K, Mancina RM, Burza MA, Indiveri C, Ferro Y, Montalcini T, Maglio C, Dongiovanni P, Fargion S, Rametta R, Pujia A, Andersson L, Ghosal S, Levin M, Wiklund O, Iacovino M, Borén J, Romeo S.
PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells.
Hum Mol Genet 23:4077-85 (2014)
Pingitore P, Pirazzi C, Mancina RM, Motta BM, Indiveri C, Pujia A, Montalcini T, Hedfalk K, Romeo S.
Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function.
Biochim Biophys Acta 1841:574-80 (2014)
Pirazzi C, Adiels M, Burza MA, Mancina RM, Levin M, Ståhlman M, Taskinen MR, Orho-Melander M, Perman J, Pujia A, Andersson L, Maglio C, Montalcini T, Wiklund O, Borén J, Romeo S.
Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro.
J Hepatol 57:1276-82 (2012)
Romeo S, Sentinelli F, Cambuli VM, Incani M, Congiu T, Matta V, Pila S, Huang-Doran I, Cossu E, Loche S, Baroni MG.
The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life.
J Hepatol 53:335-8 (2010)
Romeo S, Yin W, Kozlitina J, Pennacchio LA, Boerwinkle E, Hobbs HH, Cohen JC.
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
J Clin Invest 119:70-9 (2009)
Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA, Boerwinkle E, Cohen JC, Hobbs HH.
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
Nat Genet 40:1461-5 (2008)
Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH, Cohen JC.
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.
Nat Genet 39:513-6 (2007)
