Päivi Pajukanta

Additional information

Päivi Pajukanta

Dr. Pajukanta and her research group focus on genetics of common cardiovascular disorders with a particular interest in the premature coronary heart disease (CHD), familial lipid disorders, such as familial combined hyperlipidemia (FCHL) and decreased high-density lipoprotein (HDL)-cholesterol, as well as obesity. Dr. Pajukanta's recent work include the mapping of the first locus identified for the FCHL disorder on chromosome 1q21 and the subsequent identification of the gene for this complex trait on chromosome 1q21. Her other accomplishments include identification of a gene for obesity by positional cloning as well as several genome-wide scans for complex cardiovascular disorders. In these genome scans, multiple chromosomal regions linked to cardiovascular traits have been identified. In future the Dr. Pajukanta's research group will concentrate on fine mapping these chromosomal regions using linkage, association and gene expression analyses to identify the underlying genes and their causative functional variants. To aid in this process methods of molecular medicine, biostatistics, systems biology and bioinformatics will be utilized to accelerate the identification of genes for complex cardiovascular traits. The characterization of genes for complex cardiovascular traits has a great potential to develop more accurate diagnostic tools, earlier detection, preventive interventions, and biology-based targeted therapeutic strategies.

Selected publications

  1. P Pajukanta, I Nuotio, JD Terwilliger, KVK Porkka, K Ylitalo, J Pihlajamäki, AJ Suomalainen, A-C Syvänen, T Lehtimäki, JSA Viikari, M Laakso, M-R Taskinen, C Ehnholm, and L Peltonen. Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nature Genetics, 1998:18:369-373.

  2. P Pajukanta, JD Terwilliger, M Perola, T Hiekkalinna, I Nuotio, P Ellonen, M Parkkonen, J Hartiala, K Porkka, M Laakso, J Viikari, C Ehnholm, M-R Taskinen, and L Peltonen. Genome wide scan for familial combined hyperlipidemia genes in Finnish families suggesting multiple susceptibility loci influencing triglyceride, cholesterol and apolipoprotein B levels. The American Journal of Human Genetics, 1999:64:1453-1463.

  3. P Pajukanta, M Cargill, L Viitanen, I Nuotio, A Kareinen, M Perola, JD Terwilliger, E Kempas, M Daly, H Lilja, JD Rioux, T Brettin, JSA Viikari, T Rönnemaa, M Laakso, ES Lander, and L Peltonen Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. The American Journal of Human Genetics, 2000:67:1481-1493.

  4. A Soro, P Pajukanta, HE Lilja, K Ylitalo, JSA Viikari, M-R Taskinen, and L Peltonen. Genome scans provide evidence for low HDL-C loci on chromosomes 8q23, 16q24.1-24.2 and 20q13.11 in Finnish families. The American Journal of Human Genetics, 2002: 70:1333-1340.

  5. P Pajukanta, H Allayee, KL. Krass, A Kuraishy, A Soro, HE Lilja, R Mar, M-R Taskinen, I Nuotio, M Laakso, JI Rotter, TWA de Bruin, RM Cantor, AJ Lusis and L Peltonen. A Combined Analysis of Genome Scans of Dutch and Finnish Families Reveals a Susceptibility Locus for High-density lipoprotein cholesterol on Chromosome 16q. The American Journal of Human Genetics, 2003:72:903-917.

  6. E Suviolahti, LJ Oksanen, M Öhman, RM Cantor, M Ridderstråle, T Tuomi, J Kaprio, A Rissanen, P Mustajoki, P Jousilahti, E Vartiainen, K Silander, R Kilpikari, V Salomaa, L Groop, K Kontula, L Peltonen and P Pajukanta . The SLC6A14 gene shows evidence of association with obesity. The Journal of Clinical Investigation, 2003:112:1762-1772.

  7. P Pajukanta, HE Lilja, J. Sinsheimer, RM Cantor, AJ. Lusis, M Gentile, X Joyce Duan, A Soro-Paavonen, J Naukkarinen, J Saarela, M Laakso, C Ehnholm, M-R Taskinen and L Peltonen. Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nature Genetics, 2004:36:371-376.

  8. Cantor RM, Chen GK, Pajukanta P, Lange K. Association testing in a linked region using large pedigrees. The American Journal of Human Genetics, 2005:76:538-542.

  9. Huertas-Vazquez A, Aguilar-Salinas C, Lusis AJ, Cantor RM, Canizales-Quinteros S, Lee JC, Mariana-Nuñez L, Metha R, Riba-Ramirez L, Jokiaho A, Tusie-Luna T and Pajukanta P. Familial Combined Hyperlipidemia in Mexicans: Association with Upstream Transcription Factor 1 and Linkage on Chromosome 16q24.1. Arteriosclerosis Thrombosis and Vascular Biology. 2005:25:1985-1991.

  10. Dastani Z, Quiogue L, Plaisier C, Engert JC, Marcil M, Genest J and Pajukanta P. Evidence for a gene influencing HDL-C on chromosome 4q31.21. Arteriosclerosis Thrombosis and Vascular Biology, 2006:26:392-397.

  11. Weissglas-Volkov D, Huertas-Vazquez A, Suviolahti E, Lee J, Plaisier C, Canizales-Quinteros S, Tusie-Luna T, Aguilar-Salinas C, Taskinen M-R, Pajukanta P. Common hepatic nuclear factor 4 alpha variants are associated with high serum lipid levels and the metabolic syndrome. Diabetes, 2006:55:1970-1977.

  12. Lee JC, Weissglas-Volkov D, Kyttälä M, Sinsheimer JS, Jokiaho A, de Bruin TWA, van Greevenbroek MMJ, Lusis AJ, Brennan M-L, van der Kallen CJH, Hazen SL, Pajukanta P. USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. Whites with coronary artery disease. Arteriosclerosis Thrombosis and Vascular Biology, 2007:27:2222-2227.

  13. Péterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH. Mutations in the novel LMF1 gene cause combined lipase deficiency and severe hypertriglyceridemia. Nature Genetics, 2007:39:1483-1487.

  14. Sinsheimer JS, Plaisier C, Huertas-Vazquez A, Aguilar-Salinas C, Tusie-Luna T, Pajukanta P, Lange K. Estimating Ethnic Admixture from Pedigree Data. The American Journal of Human Genetics, 2008:82:748-755.

  15. JC Lee, D Weissglas-Volkov, M Kyttälä, Z Dastani, RM Cantor, EM Sobel, C Plaisier, JC Engert, MMJ van Greevenbroek, JP Kane, MJ Malloy, CR Pullinger, A Huertaz-Vazquez, CA Aguilar-Salinas, T Tusie- Luna, TWA de Bruin, BE Aouizerat, C van der Kallen, CM Croce, RI Aqeilan, M Marcil, JSA Viikari, T Lehtimäki, OT Raitakari, J Kuusisto, M Laakso, M-R Taskinen, J Genest, P Pajukanta. WW domain-containing oxidoreductase is associated with low plasma HDL-C levels. The American Journal of Human Genetics, 2008:83:180-192.

  16. CL Plaisier, M Kyttälä, D Weissglas-Volkov, JS Sinsheimer, A Huertas-Vazquez, L Riba, S Ramírez-Jiménez, TWA de Bruin, T Tusié-Luna, BE Aouizerat, CR Pullinger, MJ Malloy, JP Kane, I Cruz-Bautista, MF Herrera, C Aguilar-Salinas, J Kuusisto, M Laakso, M-R Taskinen, CJH van der Kallen, P Pajukanta. Galanin preproprotein is associated with elevated plasma triglycerides. Arteriosclerosis Thrombosis and Vascular Biology, 2009:29:147-152