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Human Molecular Genetics, 2001, Vol. 10, No. 26 3037-3048
© 2001 Oxford University Press

Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q

Tiina Paunio1,2,+, Jesper Ekelund1,2, Teppo Varilo1,3, Alex Parker4, Iiris Hovatta1, Joni A. Turunen1,3, Kate Rinard4, Alessandro Foti4, Joseph D. Terwilliger5,6, Hannu Juvonen2, Jaana Suvisaari2, Ritva Arajärvi2, Jaana Suokas2, Timo Partonen2, Jouko Lönnqvist2, Joanne Meyer4 and Leena Peltonen1,3,7

1Department of Molecular Medicine and 2Mental Health and Alcohol Research, National Public Health Institute, Helsinki, Finland, 3Department of Medical Genetics, University of Helsinki, Finland, 4Millennium Pharmaceuticals, Inc., Cambridge, MA, USA, 5Department of Psychiatry and Columbia Genome Center, Columbia University, 6Division of Medical Genetics, New York State Psychiatric Institute, New York, NY, USA and 7Department of Human Genetics, UCLA, Los Angeles, CA, USA

We have previously carried out two genome-wide scans in samples of Finns ascertained for schizophrenia from national epidemiological registers. Here, we report data from a third genome scan in a nationwide Finnish schizophrenia study sample of 238 pedigrees with 591 affected individuals. Of the 238 pedigrees, 53 originated from a small internal isolate (IS) on the eastern border of Finland with a well established genealogical history and a small number of founders, who settled in the community 300 years ago. The total study sample of over 1200 individuals were genotyped, using 315 markers. In addition to the previously identified chromosome 1 locus, two new loci were identified on chromosomes 2q and 5q. The highest LOD scores were found in the IS families with marker D2S427 (Zmax = 4.43) and in the families originating from the late settlement region with marker D5S414 (Zmax = 3.56). In addition to 1q, 2q and 5q, some evidence for linkage emerged at 4q, 9q and Xp, the regions also suggested by our previous genome scans, whereas, in the nationwide study sample, the region at 7q failed to show further evidence of linkage. The chromosome 5q finding is of particular interest, since several other studies have also shown evidence for linkage in the vicinity of this locus.

+ To whom correspondence should be addressed at: Department of Molecular Medicine, National Public Health Institute, Biomedicum, PL104, 00251 Helsinki, Finland. Tel: +358 9 47448751; Fax: +358 9 47448480; Email: tiina.paunio@ktl.fi


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