Dr Aarno Palotie

Aarno's group is mainly involved in projects investigating the genetic predisposition of traits affecting the Central Nervous System, particularly migraine, epilepsy, schizophrenia and autism.

Aarno earned his MD and PhD degrees at the University Of Oulu, Finland. He served his residency in laboratory medicine and earned his speciality in Clinical Chemistry (Clinical pathology) at the University of Helsinki.

After his residency he founded and ran the diagnostic laboratory for molecular genetics at the Helsinki University Hospital and was Professor of Cell and Molecular Biology at the University of Helsinki. From 1998 to 2002 he was Professor of Pathology at the University Of California School Of Medicine, Los Angeles. From 2002 to 2008 he was Director of the Finnish Genome Center, an independent institute at the University of Helsinki. Since 2004 he has been a visiting Professor at the Broad Institute of MIT and Harvard. He also holds a position at the Institute for Molecular Medicine Finland (FIMM) in Helsinki.

Aarno has been a Senior Researcher at the Wellcome Trust Sanger Institute since Autumn 2007. Aarno has a long history of research in genetics of Mendelian and complex traits. This has included locus and variant identification in monogenic diseases belonging to the Finnish disease heritage and linkage and association studies in complex traits. Linked to his clinical specialty and clinical duties, Aarno has a history in developing and applying new techniques for molecular diagnostics, mutation detection, physical mapping and tissue arrays.

Currently his group is studying the genetic predisposition of traits affecting the Central Nervous System: migraine, epilepsy, schizophrenia and autism. Projects are based on the use of large, well-characterised special populations and family samples. The wealth of multiple large sample sets available enables the group to use different study designs for genome variant identification, verification and effect size estimation. In collaboration with several international groups, including the International Headache Genetics Consortium, Aarno's group used data from genome-wide association studies to identify the first robust variant associated with common forms of migraine. Aarno is the co-chair of the neurodevelopmental arm of the UK10K project, which aims to sequence the exomes of 3000 schizophrenia and autism cases.

Selected Publications

• Genome-wide association study reveals three susceptibility loci for common migraine in the general population.

  Chasman DI, Schürks M, Anttila V, de Vries B, Schminke U, Launer LJ, Terwindt GM, van den Maagdenberg AM, Fendrich K, Völzke H, Ernst F, Griffiths LR, Buring JE, Kallela M, Freilinger T, Kubisch C, Ridker PM, Palotie A, Ferrari MD, Hoffmann W, Zee RY and Kurth T

  Nature genetics 2011;43;7;695-8

  PUBMED: 21666692; PMC: 3125402; DOI: 10.1038/ng.856

• Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

  Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A and International Headache Genetics Consortium

  Nature genetics 2010;42;10;869-73

  PUBMED: 20802479; PMC: 2948563; DOI: 10.1038/ng.652

• An immune response network associated with blood lipid levels.

  Inouye M, Silander K, Hamalainen E, Salomaa V, Harald K, Jousilahti P, Männistö S, Eriksson JG, Saarela J, Ripatti S, Perola M, van Ommen GJ, Taskinen MR, Palotie A, Dermitzakis ET and Peltonen L

  PLoS genetics 2010;6;9

  PUBMED: 20844574; PMC: 2936545; DOI: 10.1371/journal.pgen.1001113

• Distinct variants at LIN28B influence growth in height from birth to adulthood.

  Widén E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T, Järvelin MR, Eriksson JG, Raitakari O, Salomaa V, Sovio U, Hartikainen AL, Pouta A, McCarthy MI, Osmond C, Kajantie E, Lehtimäki T, Viikari J, Kähönen M, Tyler-Smith C, Freimer N, Hirschhorn JN, Peltonen L and Palotie A

  American journal of human genetics 2010;86;5;773-82

  PUBMED: 20398887; PMC: 2869010; DOI: 10.1016/j.ajhg.2010.03.010

• Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease.

  McCarroll SA, Bradner JE, Turpeinen H, Volin L, Martin PJ, Chilewski SD, Antin JH, Lee SJ, Ruutu T, Storer B, Warren EH, Zhang B, Zhao LP, Ginsburg D, Soiffer RJ, Partanen J, Hansen JA, Ritz J, Palotie A and Altshuler D

  Nature genetics 2009;41;12;1341-4

  PUBMED: 19935662; PMC: 2804745; DOI: 10.1038/ng.490

• The genome-wide patterns of variation expose significant substructure in a founder population.

  Jakkula E, Rehnström K, Varilo T, Pietiläinen OP, Paunio T, Pedersen NL, deFaire U, Järvelin MR, Saharinen J, Freimer N, Ripatti S, Purcell S, Collins A, Daly MJ, Palotie A and Peltonen L

  American journal of human genetics 2008;83;6;787-94

  PUBMED: 19061986; PMC: 2668058; DOI: 10.1016/j.ajhg.2008.11.005

• Susceptibility loci for intracranial aneurysm in European and Japanese populations.

  Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Ohman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP and Günel M

  Nature genetics 2008;40;12;1472-7

  PUBMED: 18997786; PMC: 2682433; DOI: 10.1038/ng.240

• A high-density association screen of 155 ion transport genes for involvement with common migraine.

  Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L and Palotie A

  Human molecular genetics 2008;17;21;3318-31

  PUBMED: 18676988; PMC: 2566523; DOI: 10.1093/hmg/ddn227

• Consistently replicating locus linked to migraine on 10q22-q23.

  Anttila V, Nyholt DR, Kallela M, Artto V, Vepsäläinen S, Jakkula E, Wennerström A, Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Widén E, Terwilliger J, Merikangas K, Montgomery GW, Martin NG, Daly M, Kaprio J, Peltonen L, Färkkilä M, Wessman M and Palotie A

  American journal of human genetics 2008;82;5;1051-63

  PUBMED: 18423523; PMC: 2427232; DOI: 10.1016/j.ajhg.2008.03.003

• Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci.

  Perola M, Sammalisto S, Hiekkalinna T, Martin NG, Visscher PM, Montgomery GW, Benyamin B, Harris JR, Boomsma D, Willemsen G, Hottenga JJ, Christensen K, Kyvik KO, Sørensen TI, Pedersen NL, Magnusson PK, Spector TD, Widen E, Silventoinen K, Kaprio J, Palotie A, Peltonen L and GenomEUtwin Project

  PLoS genetics 2007;3;6;e97

  PUBMED: 17559308; PMC: 1892350; DOI: 10.1371/journal.pgen.0030097

• Finding disease candidate genes by liquid association.

  Li KC, Palotie A, Yuan S, Bronnikov D, Chen D, Wei X, Choi OW, Saarela J and Peltonen L

  Genome biology 2007;8;10;R205

  PUBMED: 17915034; PMC: 2246280; DOI: 10.1186/gb-2007-8-10-r205

• Trait components provide tools to dissect the genetic susceptibility of migraine.

  Anttila V, Kallela M, Oswell G, Kaunisto MA, Nyholt DR, Hamalainen E, Havanka H, Ilmavirta M, Terwilliger J, Sobel E, Peltonen L, Kaprio J, Farkkila M, Wessman M and Palotie A

  American journal of human genetics 2006;79;1;85-99

  PUBMED: 16773568; PMC: 1474123; DOI: 10.1086/504814

• PRKCA and multiple sclerosis: association in two independent populations.

  Saarela J, Kallio SP, Chen D, Montpetit A, Jokiaho A, Choi E, Asselta R, Bronnikov D, Lincoln MR, Sadovnick AD, Tienari PJ, Koivisto K, Palotie A, Ebers GC, Hudson TJ and Peltonen L

  PLoS genetics 2006;2;3;e42

  PUBMED: 16596167; PMC: 1420678; DOI: 10.1371/journal.pgen.0020042

• Segmental duplications flank the multiple sclerosis locus on chromosome 17q.

  Chen DC, Saarela J, Clark RA, Miettinen T, Chi A, Eichler EE, Peltonen L and Palotie A

  Genome research 2004;14;8;1483-92

  PUBMED: 15256512; PMC: 509257; DOI: 10.1101/gr.2340804

• Expression of colony-stimulating factor 1 receptor during prostate development and prostate cancer progression.

  Ide H, Seligson DB, Memarzadeh S, Xin L, Horvath S, Dubey P, Flick MB, Kacinski BM, Palotie A and Witte ON

  Proceedings of the National Academy of Sciences of the United States of America 2002;99;22;14404-9

  PUBMED: 12381783; PMC: 137896; DOI: 10.1073/pnas.222537099

• Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24.

  Saarela J, Schoenberg Fejzo M, Chen D, Finnilä S, Parkkonen M, Kuokkanen S, Sobel E, Tienari PJ, Sumelahti ML, Wikström J, Elovaara I, Koivisto K, Pirttilä T, Reunanen M, Palotie A and Peltonen L

  Human molecular genetics 2002;11;19;2257-67

  PUBMED: 12217954

• A susceptibility locus for migraine with aura, on chromosome 4q24.

  Wessman M, Kallela M, Kaunisto MA, Marttila P, Sobel E, Hartiala J, Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Färkkilä M, Peltonen L and Palotie A

  American journal of human genetics 2002;70;3;652-62

  PUBMED: 11836652; PMC: 384944; DOI: 10.1086/339078

• Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

  Virolainen E, Wessman M, Hovatta I, Niemi KM, Ignatius J, Kere J, Peltonen L and Palotie A

  American journal of human genetics 2000;66;3;1132-7

  PUBMED: 10712223; PMC: 1288147; DOI: 10.1086/302813

• Accurate determination of relative messenger RNA levels by RT-PCR.

  Stenman J, Finne P, Ståhls A, Grénman R, Stenman UH, Palotie A and Orpana A

  Nature biotechnology 1999;17;7;720-2

  PUBMED: 10409357; DOI: 10.1038/10942

• Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene.

  Paavola P, Horelli-Kuitunen N, Palotie A and Peltonen L

  Genomics 1999;55;1;122-5

  PUBMED: 9889007; DOI: 10.1006/geno.1998.5612

• Mapping ESTs by fiber-FISH.

  Horelli-Kuitunen N, Aaltonen J, Yaspo ML, Eeva M, Wessman M, Peltonen L and Palotie A

  Genome research 1999;9;1;62-71

  PUBMED: 9927485; PMC: 310701