Genetic background of common diseases

Research

Rapidly expanded information of human genome has facilitated detailed genome-wide analyses of the genetic risk elements in common diseases, representing common health problems. Research groups of the Department of Molecular Medicine aim to characterize genetic risk factors in cardiovascular and neuropsychiatric diseases.

Utilizing unique study samples of Finland we have, in the collaboration with experts in clinical medicine, epidemiology, statistical genetics and biocomputing, identified total of 16 loci in hyperlipidemias, cardiovascular diseases, psychiatric diseases and multiple sclerosis. In the case of lactose intolerance, familial combined hyperlipidemia and multiple sclerosis we have been able to identify DNA variants associated with the disease. The identified variants will be tested for their significance in the large population cohorts of NPHI. In a large European twin study, funded by EU, we aim to define the role of genetic and life style risk factors for the appearance and severity of common diseases.

Research Group

Palotie Leena, professor
Perola Markus, MD, Ph.D., docent
Paunio Tiina, MD, Ph.D., docent
Loukola Anu, Ph.D.
Saarela Janna, MD, Ph.D.
Silander Kaisa, Ph.D.
Varilo Teppo, MD, Ph.D., docent

• Stefansson H, Rujescu D, Cichon S, Pietiläinen OP et al. (2008) Large recurrent microdeletions associated with schizophrenia. Nature Jul 30. PubMed.
  
• Pietiläinen KH, Naukkarinen J, Rissanen A, Saharinen J, Ellonen P, Keränen H, Suomalainen A, Götz A, Suortti T, Yki-Järvinen H, Oresic M, Kaprio J, Peltonen L. (2008) Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity. PLoS Med. 5(3):e51. PubMed
  
• 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, Peltonen L. (2006) PRKCA and multiple sclerosis: association in two independent populations. PLoS Genet. 2(3):e42. PubMed
  
• Pajukanta P, Lilja HE, Sinsheimer JS, Cantor RM, Lusis AJ, Gentile M, Duan XJ, Soro-Paavonen A, Naukkarinen J, Saarela J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nat Genet. 36(4):371-376. PubMed
  
• Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T, Sinsheimer JS, Peltonen L, Järvelä I. (2002) A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet. 71(4):777-90. PubMed
  
• Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I. (2002) Identification of a variant associated with adult-type hypolactasia. Nat Genet 30(2):233-7. PubMed
  
• Peltonen L, McKusick VA. (2001) Genomics and medicine. Dissecting human disease in the postgenomic era. Science 291(5507):1224-9. PubMed
  
• Paunio T, Ekelund J, Varilo T, Parker A, Hovatta I, Turunen JA, Rinard K, Foti A, Terwilliger JD, Juvonen H, Suvisaari J, Arajarvi R, Suokas J, Partonen T, Lönnqvist J, Meyer J, Peltonen L. (2001) Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet 10(26):3037-48. PubMed
  
• Pajukanta P, Cargill M, Viitanen L, Nuotio I, Kareinen A, Perola M, Terwilliger JD, Kempas E, Daly M, Lilja H, Rioux JD, Brettin T, Viikari JS, Ronnemaa T, Laakso M, Lander ES, Peltonen L. (2000) Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet 67(6):1481-93. PubMed
  
• Peltonen L, Palotie A, Lange K. (2000) Use of population isolates for mapping complex traits. Nat Rev Genet. 1(3):182-90. PubMed
  

• Kati Kristiansson - Genetics of cardiovascular disease: a candidate gene study of USF1, 2008 (Supervised by Professor Leena Peltonen-Palotie and Docent Markus Perola)
• Jussi Naukkarinen - Molecular background of common dyslipidemias, 2008 (Supervised by Professor Leena Peltonen-Palotie)
• Sampo Sammalisto - Search for genetic variants influencing human height, 2008 (Supervised by Professor Leena Peltonen-Palotie and Docent Markus Perola)
  
• Kirsi Auro - Candidate gene studies on cardiovascular traits, 2007 (Supervised by Docent Markus Perola and Professor Leena Peltonen-Palotie)
• Anna Kiialainen - Pathogenic mechanisms of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), 2007 (Supervised by Professor  Leena Peltonen-Palotie and Docent Outi Kopra)

Additional information

Professor Leena Palotie
(e-mail: firstname.lastname@ktl.fi)

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