Leena Peltonen

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi Positional cloning of disease genes: advantages of genetic isolates
    L Peltonen
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095 7088, USA
    Hum Hered 50:66-75. 2000
  2. ncbi Genetics of the neuronal ceroid lipofuscinoses
    L Peltonen
    Department of Human Genetics, UCLA School of Medicine, Gonda Center, Los Angeles, California 90095 7088, USA
    Curr Opin Genet Dev 10:299-305. 2000
  3. ncbi Use of population isolates for mapping complex traits
    L Peltonen
    Department of Medical Genetics, University of Helsinki and National Public Health Institute, Finland
    Nat Rev Genet 1:182-90. 2000
  4. ncbi Molecular genetics of the Finnish disease heritage
    L Peltonen
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Hum Mol Genet 8:1913-23. 1999
  5. ncbi Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1
    William Hennah
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Hum Mol Genet 16:453-62. 2007
  6. pmc Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease
    Heidi O Nousiainen
    Department of Molecular Medicine, National Public Health Institute, Helsinki 00290, Finland
    Nat Genet 40:155-7. 2008
  7. pmc No evidence for shared etiology in two demyelinative disorders, MS and PLOSL
    Anna Maija Sulonen
    Finnish Institute for Molecular Medicine, FIMM, and National Public Health Institute, Biomedicum, Helsinki, Finland
    J Neuroimmunol 206:86-90. 2009
  8. pmc Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample
    Pia Soronen
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Biol Psychiatry 64:438-42. 2008
  9. pmc Association of variants in DISC1 with psychosis-related traits in a large population cohort
    Liisa Tomppo
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Arch Gen Psychiatry 66:134-41. 2009
  10. pmc Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder
    Ake T Lu
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1488-94. 2008

Detail Information

Publications169 found, 100 shown here

  1. ncbi Positional cloning of disease genes: advantages of genetic isolates
    L Peltonen
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095 7088, USA
    Hum Hered 50:66-75. 2000
    ....
  2. ncbi Genetics of the neuronal ceroid lipofuscinoses
    L Peltonen
    Department of Human Genetics, UCLA School of Medicine, Gonda Center, Los Angeles, California 90095 7088, USA
    Curr Opin Genet Dev 10:299-305. 2000
    ..Further work will be required to characterize the interactiving molecules and metabolic pathways involved in the pathogenesis of NCLs...
  3. ncbi Use of population isolates for mapping complex traits
    L Peltonen
    Department of Medical Genetics, University of Helsinki and National Public Health Institute, Finland
    Nat Rev Genet 1:182-90. 2000
    ..Despite the obvious genetic and environmental complications, geneticists have targeted several population isolates for mapping genes for complex diseases...
  4. ncbi Molecular genetics of the Finnish disease heritage
    L Peltonen
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Hum Mol Genet 8:1913-23. 1999
    ....
  5. ncbi Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1
    William Hennah
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Hum Mol Genet 16:453-62. 2007
    ..Notably, this and other converging lines of evidence underline the importance of DISC1-related functional pathways in the etiology of schizophrenia...
  6. pmc Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease
    Heidi O Nousiainen
    Department of Molecular Medicine, National Public Health Institute, Helsinki 00290, Finland
    Nat Genet 40:155-7. 2008
    ..Our finding of mutated GLE1 exposes a common pathway connecting the genes implicated in LCCS1, LCCS2 and LCCS3 and elucidates mRNA processing as a critical molecular mechanism in motoneuron development and maturation...
  7. pmc No evidence for shared etiology in two demyelinative disorders, MS and PLOSL
    Anna Maija Sulonen
    Finnish Institute for Molecular Medicine, FIMM, and National Public Health Institute, Biomedicum, Helsinki, Finland
    J Neuroimmunol 206:86-90. 2009
    ..To conclude, the DAP12-TREM2 complex unlikely has a role in genetic susceptibility of MS...
  8. pmc Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample
    Pia Soronen
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Biol Psychiatry 64:438-42. 2008
    ..Bipolar disorder and schizophrenia are hypothesized to share some genetic background...
  9. pmc Association of variants in DISC1 with psychosis-related traits in a large population cohort
    Liisa Tomppo
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Arch Gen Psychiatry 66:134-41. 2009
    ..There is an abundance of data from human genetic studies and animal models that implies a role for the disrupted in schizophrenia 1 gene (DISC1) in the etiology of schizophrenia and other major mental illnesses...
  10. pmc Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder
    Ake T Lu
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1488-94. 2008
    ..01 for C-G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders...
  11. ncbi Transcript profiles of dendritic cells of PLOSL patients link demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response
    Anna Kiialainen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290, Helsinki, Finland
    J Mol Med (Berl) 85:971-83. 2007
    ..The data underline the functional diversity of the molecules of the innate immune system and implies their significant contribution also in demyelinating CNS disorders, including those resulting in dementia...
  12. ncbi Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments
    Outi M Palo
    Department of Molecular Medicine, National Public Health Insitute, Helsinki, Finland
    Hum Mol Genet 16:2517-28. 2007
    ..Finding of alternative associating haplotypes in the same set of BPD families gives evidence for allelic heterogeneity within DISC1, eventually leading to heterogeneity in the clinical outcome as well...
  13. doi Mixture model clustering of phenotype features reveals evidence for association of DTNBP1 to a specific subtype of schizophrenia
    Jaana Wessman
    Department of Molecular Medicine, Helsinki, Finland
    Biol Psychiatry 66:990-6. 2009
    ..Possible explanations for this are that the genes might be relevant only to certain subtypes of the disease and/or only in certain populations...
  14. pmc Linkage analysis of schizophrenia controlling for population substructure
    Tiina Paunio
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Am J Med Genet B Neuropsychiatr Genet 150:827-35. 2009
    ..18). Thus the detailed genealogical information led us to identification of distinct linkage signals for schizophrenia susceptibility loci between the three analyses we performed...
  15. pmc Association of AKT1 with verbal learning, verbal memory, and regional cortical gray matter density in twins
    Olli P H Pietiläinen
    FIMM, Institute for Molecular Medicine Finland and National Public Health Institute, Biomedicum, Helsinki, Finland
    Am J Med Genet B Neuropsychiatr Genet 150:683-92. 2009
    ..The established association of the same allelic variant of AKT1 with both cognitive and neuroanatomical aberrations could suggest that AKT1 exerts its effect on verbal learning and memory via neural networks involving prefrontal cortex...
  16. doi Identification of susceptibility loci at 7q31 and 9p13 for bipolar disorder in an isolated population
    Outi M Palo
    FIMM, Institute for Molecular Medicine and National Institute for Health and Welfare, Helsinki, Finland
    Am J Med Genet B Neuropsychiatr Genet 153:723-35. 2010
    ..The loci on the centromeric region of 9p13 and the telomeric region of 7q31 may represent susceptibility loci for mood disorder in the Finnish population...
  17. pmc Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q
    Paivi Pajukanta
    Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 72:903-17. 2003
    ..1 region, we investigated a novel functional and positional candidate gene, helix/forkhead transcription factor (FOXC2), by sequencing and by genotyping of two single-nucleotide polymorphisms in the families...
  18. pmc Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses
    Liisa Tomppo
    Institute for Molecular Medicine Finland FIMM and National Public Health Institute, Helsinki, Finland
    Biol Psychiatry 65:1055-62. 2009
    ..Because both DISC1 and NDE1 display association in our study sample, we hypothesized that other genes interacting with DISC1 might also have a role in the etiology of schizophrenia...
  19. ncbi Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory
    Tyrone D Cannon
    Department of Psychology, 1285 Franz Hall, University of California Los Angeles, Los Angeles, CA 90095, USA
    Arch Gen Psychiatry 62:1205-13. 2005
    ..Chromosome 1q42 is among several genomic regions showing replicated evidence of linkage with schizophrenia, but the specific susceptibility mechanisms underlying this relationship remain to be identified...
  20. pmc Gender differences in genetic risk profiles for cardiovascular disease
    Kaisa Silander
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS ONE 3:e3615. 2008
    ..We aimed to estimate whether the genetic risk profiles of coronary heart disease (CHD), ischemic stroke and the composite end-point of CVD differ between the genders...
  21. doi Sex-specific influence of DRD2 on ADHD-type temperament in a large population-based birth cohort
    Emma S Nyman
    Public Health Genomics Unit, Institute for Molecular Medicine Finland FIMM, University of Helsinki and National Institute for Health and Welfare, Helsinki, Finland
    Psychiatr Genet 22:197-201. 2012
    ..Furthermore, these findings suggest that the putative role of low Persistence as an endophenotype for ADHD deserves further investigation...
  22. doi Data on schizotypy and affective scales are gender and education dependent--study in the Northern Finland 1966 Birth Cohort
    Jouko Miettunen
    Department of Psychiatry, Oulu University and Oulu University Hospital, Oulu, Finland Academy of Finland, Helsinki, Finland
    Psychiatry Res 178:408-13. 2010
    ..These differences should be taken into account when considering normal values in these scales. The findings indicate that commonly used student samples are likely to be biased when compared to community based samples...
  23. doi Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns
    Kaisa Valli-Jaakola
    Department of Medicine and Research Program for Molecular Medicine, University of Helsinki, Helsinki, Finland
    Obesity (Silver Spring) 16:2113-9. 2008
    ..In this study, we did not find association between the frequently studied ENPP1 K121Q variant, nor SNPs in the MCR or POMC genes and obesity or type 2 diabetes...
  24. pmc Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia
    Juho Wedenoja
    Institute for Molecular Medicine Finland FIMM, University of Helsinki and National Institute for Health and Welfare, Helsinki, Finland
    Biol Psychiatry 67:983-91. 2010
    ....
  25. pmc The genome-wide patterns of variation expose significant substructure in a founder population
    Eveliina Jakkula
    Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland FIMM, Helsinki, Finland
    Am J Hum Genet 83:787-94. 2008
    ..Further, the results provide interesting lessons concerning the impact of population history on the genome landscape of humans, as well as approaches to identify rare variants enriched in these subpopulations...
  26. pmc Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
    Carina von Schantz
    National Public Health Institute and FIMM, Institute for Molecular Medicine, Helsinki, Finland
    BMC Genomics 9:146. 2008
    ..Both mouse-models replicate the NCL phenotype and neuropathology; the Cln1-/- model presents with early onset, severe neurodegenerative disease, whereas the Cln5-/- model produces a milder disease with a later onset...
  27. pmc Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex
    Christina G S Palmer
    Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA, 90095, USA
    Schizophr Res 104:135-45. 2008
    ..Sex differences during fetal neurodevelopment should be investigated to fully elucidate the etiology of schizophrenia...
  28. pmc Allelic variants in HTR3C show association with autism
    Karola Rehnstrom
    Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, Helsinki, Finland
    Am J Med Genet B Neuropsychiatr Genet 150:741-6. 2009
    ..Based on the association analysis results in a previously identified linkage region, we propose that HTR3C represents a novel candidate locus for ASDs and should be tested in other populations...
  29. ncbi The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland
    Joni A Turunen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, P O Box 104, FI 00251, Helsinki, Finland
    Schizophr Res 91:27-36. 2007
    ..Furthermore, results do not support a major role for NRG1, but we cannot completely exclude a minor role of this gene in the Finnish population...
  30. pmc Combined effects of thrombosis pathway gene variants predict cardiovascular events
    Kirsi Auro
    0Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS Genet 3:e120. 2007
    ..These results suggest that variants in these four thrombosis genes contribute to arterial cardiovascular events at population level...
  31. ncbi Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts
    Mervi Alanne
    Department of Molecular Medicine, KTL National Public Health Institute, Biomedicum, Helsinki, Finland
    Hum Genet 122:355-65. 2007
    ..This observation should stimulate further investigations of the role of this gene and protein in the pathogenesis of CVD...
  32. pmc Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene
    Eveliina Jakkula
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 86:285-91. 2010
    ..This study also demonstrates the potential of special isolated populations in search for variants contributing to complex traits...
  33. ncbi ADHD candidate gene study in a population-based birth cohort: association with DBH and DRD2
    Emma S Nyman
    National Public Health Institute, Helsinki, Finland
    J Am Acad Child Adolesc Psychiatry 46:1614-21. 2007
    ..This study tests a series of allelic variants within such candidate genes to determine their potential influence on ADHD susceptibility...
  34. ncbi Sweet taste preferences are partly genetically determined: identification of a trait locus on chromosome 16
    Kaisu Keskitalo
    Department of Food Technology, University of Helsinki, Helsinki, Finland
    Am J Clin Nutr 86:55-63. 2007
    ..Humans have an innate preference for sweet taste, but the degree of liking for sweet foods varies individually...
  35. ncbi Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)
    Henna Haravuori
    Department of Molecular Medicine, National Public Health Institute, P O Box 104, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:183-7. 2004
    ..No mutations were identified in the coding sequence...
  36. pmc Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis
    Pirkka Pekka Laurila
    Public Health Genomics Unit, National Institute for Health and Welfare and Institute for Molecular Medicine, Helsinki, Finland
    Arterioscler Thromb Vasc Biol 30:346-52. 2010
    ..No detailed studies about the effect of APOA5 on atherosclerotic lesion formation have been conducted, nor has its potential interaction with USF1 been examined...
  37. pmc Critical immunological pathways are downregulated in APECED patient dendritic cells
    Nora Pöntynen
    National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Biomedicum, Helsinki, Finland
    J Mol Med (Berl) 86:1139-52. 2008
    ..Our observations support a role for AIRE in peripheral tolerance and are the first ones to show that AIRE has a critical role in DC responses to microbial stimuli in humans...
  38. ncbi Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
    Lisa Mee
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA
    Hum Mol Genet 14:1475-88. 2005
    ..The Drosophila melanogaster model confirmed these findings and provides evidence for the significance of the mutation both in vitro and in vivo...
  39. pmc Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
    Chiara Sabatti
    Department of Human Genetics and Los Angeles, Los Angeles, California 90095, USA
    Nat Genet 41:35-46. 2009
    ..The association observed between low-density lipoprotein and an infrequent variant in AR suggests the potential of such a cohort for identifying associations with both common, low-impact and rarer, high-impact quantitative trait loci...
  40. ncbi Family-based association study of DYX1C1 variants in autism
    Tero Ylisaukko-Oja
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Eur J Hum Genet 13:127-30. 2005
    ..Thus it seems unlikely that DYX1C1 gene would be involved in the genetic etiology of autism in Finnish patients...
  41. ncbi Search for cognitive trait components of schizophrenia reveals a locus for verbal learning and memory on 4q and for visual working memory on 2q
    Tiina Paunio
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Hum Mol Genet 13:1693-702. 2004
    ..Our results reveal initial information on the effect of the loci associated with schizophrenia in multiple studies, and emphasize the value of trait components in the search for susceptibility loci for complex diseases...
  42. pmc Acquired obesity and poor physical fitness impair expression of genes of mitochondrial oxidative phosphorylation in monozygotic twins discordant for obesity
    Linda Mustelin
    Department of Laboratory Medicine, Division of Clinical Physiology and Nuclear Medicine, Helsinki University Central Hospital, Helsinki, Finland
    Am J Physiol Endocrinol Metab 295:E148-54. 2008
    ..8 +/- 0.5 vs. 3.3 +/- 0.6, P < 0.01). This implies that acquired poor physical fitness is associated with defective expression of the oxidative pathway components in adipose tissue mitochondria...
  43. ncbi Analysis of four neuroligin genes as candidates for autism
    Tero Ylisaukko-Oja
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Eur J Hum Genet 13:1285-92. 2005
    ..014), and NLGN4 (DXS996, P=0.031). We conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism...
  44. ncbi Fine mapping of the multiple sclerosis susceptibility locus on 5p14-p12
    Hilde Monica F Riise Stensland
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    J Neuroimmunol 170:122-33. 2005
    ....
  45. pmc Pubertal timing and growth influences cardiometabolic risk factors in adult males and females
    Elisabeth Widen
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    Diabetes Care 35:850-6. 2012
    ....
  46. doi Drug delivery formulations of ordered and nonordered mesoporous silica: comparison of three drug loading methods
    Tarja Limnell
    Division of Pharmaceutical Technology, Faculty of Pharmacy, FIN 00014 University of Helsinki, Helsinki, Finland
    J Pharm Sci 100:3294-306. 2011
    ..The fast release was also maintained after tableting. Loading of IMC into the Syloid particles alone was sufficient to produce similar IMC release profiles, as in the case of MCM-41 with the excipients...
  47. pmc Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency
    Mikko Kuokkanen
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Am J Hum Genet 78:339-44. 2006
    ....
  48. ncbi USF1 and dyslipidemias: converging evidence for a functional intronic variant
    Jussi Naukkarinen
    Department of Molecular Medicine, National Public Health Institute, Finland
    Hum Mol Genet 14:2595-605. 2005
    ..Importantly, apolipoprotein E (APOE) is the most downregulated gene in the risk individuals, linking the potential risk alleles of USF1 with the impaired APOE-dependent catabolism of atherogenic lipoprotein particles...
  49. ncbi Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
    Anu Jalanko
    Department of Medical Genetics and Molecular Medicine, University of Helsinki and National Public Health Institute, Biomedicum Helsinki, Fin 00251 Helsinki, Finland
    Neurobiol Dis 18:226-41. 2005
    ..These findings make the Ppt1Deltaex4 mouse an interesting model for the inflammation-associated death of interneurons...
  50. ncbi Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder
    Jenny M Ekholm
    Department of Molecular Medicine, National Public Health Institute, 00251 Helsinki, Finland
    Hum Mol Genet 12:1907-15. 2003
    ..7. Since the identified chromosomal regions replicate earlier linkage findings in either bipolar disorder or other mental disorders, they should be considered good targets for further genetic analyses...
  51. pmc Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies
    Kati Komulainen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    PLoS Genet 2:e69. 2006
    ....
  52. pmc A follow-up study of chromosome 19q13 in multiple sclerosis susceptibility
    Alessandro Bonetti
    Molecular Neuroscience Programme, Biomedicum Helsinki, University of Helsinki, Helsinki University Central Hospital, Helsinki, Finland
    J Neuroimmunol 208:119-24. 2009
    ..Thus, we were not able to detect any statistically significant allelic associations. Re-sequencing based approaches may be required for elucidating the role chromosome 19q13 with MS...
  53. doi Impact of the dopamine receptor gene family on temperament traits in a population-based birth cohort
    Emma S Nyman
    Institute for Molecular Medicine Finland FIMM, Helsinki, Finland
    Am J Med Genet B Neuropsychiatr Genet 150:854-65. 2009
    ..The strongest evidence of association emerged from females. Our study supports the involvement of the dopamine pathway in temperament traits, in particular underlining the role of DRD2 in Novelty seeking, Harm avoidance and Persistence...
  54. ncbi Sialin expression in the CNS implicates extralysosomal function in neurons
    Nina Aula
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, 00290 Helsinki, Finland
    Neurobiol Dis 15:251-61. 2004
    ..These data demonstrate a nonlysosomal localization of sialin in neurons and would imply a role for sialin in the secretory processes of neuronal cells...
  55. pmc Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS
    Suvi P Kallio
    Finnish Institute for Molecular Medicine, Biomedicum, Helsinki, Finland
    Hum Mol Genet 18:1670-83. 2009
    ..These results suggest that the MS predisposing locus on 5p is more complex than assumed and exemplify power of population isolates in the identification of rare disease alleles...
  56. ncbi A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
    Outi Kopra
    Department of Medical Genetics and Molecular Medicine, University of Helsinki and National Public Health Institute, Biomedicum Helsinki PL, Finland
    Hum Mol Genet 13:2893-906. 2004
    ..Since the Cln5-/- mice do not exhibit significant brain atrophy, these mice could serve as models for studies on molecular processes associated with advanced aging...
  57. pmc Finding disease candidate genes by liquid association
    Ker Chau Li
    Department of Statistics, UCLA, 8125 Math Sciences Bldg, Los Angeles, California 90095 1554, USA
    Genome Biol 8:R205. 2007
    ..A novel approach to finding candidate genes by using gene expression data through liquid association is developed and used to identify multiple sclerosis susceptibility candidate genes...
  58. pmc A blood pressure genetic risk score is a significant predictor of incident cardiovascular events in 32,669 individuals
    Aki S Havulinna
    Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland
    Hypertension 61:987-94. 2013
    ..GRSs comprising bona fide BP-single nucleotide polymorphisms predicted CVD risk, consistent with a lifelong effect on BP of these variants collectively...
  59. ncbi Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
    Kaisu Nikali
    Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland
    Hum Mol Genet 14:2981-90. 2005
    ....
  60. ncbi Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS
    Anna Kiialainen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290 Helsinki, Finland
    Neurobiol Dis 18:314-22. 2005
    ..These findings provide a good starting point for the study of the molecular mechanisms of this inherited dementia and new evidence for the involvement of the immune system in neuronal degeneration...
  61. ncbi RHD maternal-fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order
    Peter Kraft
    Department of Epidemiology and Biostatistics, Harvard School of Public Health, University of California, Los Angeles, USA
    Eur J Hum Genet 12:192-8. 2004
    ..7, consistent with earlier estimates. Our extension of the MFG test has general application to family-based studies of maternal-genotype and MFG interaction effects...
  62. ncbi An association analysis of circadian genes in anxiety disorders
    Tessa Sipilä
    Research Program of Molecular Neurology, University of Helsinki, Helsinki, Finland
    Biol Psychiatry 67:1163-70. 2010
    ..We tested this hypothesis with a genetic association analysis...
  63. ncbi Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia
    Heidi E Lilja
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    J Lipid Res 45:1876-84. 2004
    ..008) with marker D10S546. Suggestive evidence for linkage also emerged for HDL-C on 2q31 and for TGs on 20q13.32. Finnish families ascertained for dyslipidemias thus suggest that 10q11, 2q31, and 20q13.32 harbor loci for HDL-C and TGs...
  64. ncbi The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories
    Teppo Varilo
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    Hum Mol Genet 12:51-9. 2003
    ..1 cM. Our results demonstrate the complexity of the concept of 'detectable LD' and emphasize the importance of understanding population history when designing a strategy for disease gene mapping...
  65. doi Functional variant disrupts insulin induction of USF1: mechanism for USF1-associated dyslipidemias
    Jussi Naukkarinen
    Institute for Molecular Medicine Finland FIMM, National Institute for Health and Welfare, University of Helsinki, Helsinki, Finland
    Circ Cardiovasc Genet 2:522-9. 2009
    ..Typical of complex disease-associated genes, neither the explicit mutations have been described nor the functional consequences for risk allele carriers been reported at the cellular or tissue level...
  66. ncbi Food neophobia shows heritable variation in humans
    Antti Knaapila
    Department of Food Technology, University of Helsinki, FI 00014, University of Helsinki, Helsinki, Finland
    Physiol Behav 91:573-8. 2007
    ..The results from both populations suggest that about two thirds of variation in food neophobia is genetically determined...
  67. ncbi No association between common variants in glyoxalase 1 and autism spectrum disorders
    Karola Rehnstrom
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland karola
    Am J Med Genet B Neuropsychiatr Genet 147:124-7. 2008
    ..We did not observe significant linkage or association between any SNP and ASDs. Therefore, we suggest that common variants in GLO1 are not significant susceptibility factors for ASDs in the Finnish population...
  68. ncbi Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families
    Tero Ylisaukko-Oja
    Department of Molecular Medicine, National Public Health Institute, University of Helsinki, 00251 Helsinki, Finland
    Ann Neurol 59:145-55. 2006
    ..The objective of this study was to search for potential susceptibility loci for autism, which are supported by two independent samples...
  69. pmc The SLC6A14 gene shows evidence of association with obesity
    Elina Suviolahti
    Department of Human Genetics, University of California, Los Angeles, USA
    J Clin Invest 112:1762-72. 2003
    ..003). The SLC6A14 gene is an interesting novel candidate for obesity because it encodes an amino acid transporter, which potentially regulates tryptophan availability for serotonin synthesis and thus possibly affects appetite control...
  70. pmc PRKCA and multiple sclerosis: association in two independent populations
    Janna Saarela
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS Genet 2:e42. 2006
    ....
  71. ncbi Haplotype analysis and identification of genes for a complex trait: examples from schizophrenia
    William Hennah
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Ann Med 36:322-31. 2004
    ....
  72. ncbi Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24
    Janna Saarela
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Hum Mol Genet 11:2257-67. 2002
    ..5 Mb. Thus, this study describes the restriction of an MS locus outside the HLA region into a segment approachable by molecular tools...
  73. pmc A susceptibility locus for migraine with aura, on chromosome 4q24
    Maija Wessman
    Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles 90095 7088, USA
    Am J Hum Genet 70:652-62. 2002
    ..000011). Multipoint parametric (HLOD = 4.45; P=.0000058) and nonparametric (NPL(all) = 3.43; P=.0007) analyses support linkage in this region. Statistically significant linkage was not observed in any other chromosomal region...
  74. pmc HLA-B maternal-fetal genotype matching increases risk of schizophrenia
    Christina G S Palmer
    Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 79:710-5. 2006
    ..Our approach demonstrates how genetic markers can be used to characterize the biology of prenatal risk factors of schizophrenia...
  75. pmc Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
    Annu Näkki
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    BMC Med Genet 11:50. 2010
    ..In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families...
  76. doi Assessment of the neuropeptide S system in anxiety disorders
    Jonas Donner
    Research Program of Molecular Neurology, Biomedicum Helsinki, Helsinki, Finland
    Biol Psychiatry 68:474-83. 2010
    ..We addressed here the role of NPS and NPSR1 as susceptibility genes for human anxiety disorders...
  77. pmc RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility
    Christina G S Palmer
    Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, 90095, USA
    Am J Hum Genet 71:1312-9. 2002
    ..This is the first candidate-gene study to explicitly test for and provide evidence of a maternal-fetal genotype incompatibility mechanism in schizophrenia...
  78. pmc Segmental duplications flank the multiple sclerosis locus on chromosome 17q
    Daniel C Chen
    Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Los Angeles, California 90095, USA
    Genome Res 14:1483-92. 2004
    ....
  79. ncbi Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients
    Joni A Turunen
    Folkhalsan Institute of Genetics, Folkhalsan Research Center, Biomedicum Helsinki C318b, University of Helsinki, P O Box 63, Haartmaninkatu 8, 00014, Helsinki, Finland
    Immunogenetics 58:331-8. 2006
    ..In conclusion, the AIRE gene does not seem to contribute to disease susceptibility in Finnish type 1 diabetic patients, whereas the insulin gene represents a notable risk factor for disease in this population...
  80. pmc Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci
    Markus Perola
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS Genet 3:e97. 2007
    ..To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant loci (http://www.genomeutwin.org/stature_gene_map.htm)...
  81. ncbi Prevalence and psychiatric comorbidity of attention-deficit/hyperactivity disorder in an adolescent Finnish population
    Susan L Smalley
    Semel Institute, University of California, Los Angeles, CA 90095, USA
    J Am Acad Child Adolesc Psychiatry 46:1575-83. 2007
    ..The purpose of the study was to estimate the prevalence of attention-deficit/hyperactivity disorder (ADHD) and its clinical characteristics in the Northern Finland Birth Cohort 1986...
  82. ncbi A candidate gene study in low HDL-cholesterol families provides evidence for the involvement of the APOA2 gene and the APOA1C3A4 gene cluster
    Heidi E Lilja
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Atherosclerosis 164:103-11. 2002
    ....
  83. ncbi Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia
    Hooman Allayee
    Department of Human Genetics, Gonda Genetics Research Center, University of California, Los Angeles 90095, USA
    Circ Res 90:926-31. 2002
    ..This is one of the first loci identified for apoB levels in humans and is the second major locus implicated in the genetic etiology of FCH...
  84. ncbi Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects
    William Hennah
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Hum Mol Genet 12:3151-9. 2003
    ..Our findings would also encourage more detailed analyses of the effect of DISC1 on the component-traits of schizophrenia...
  85. pmc Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families
    Aino Soro
    Department of Human Genetics, Gonda Neuroscience and Genetics Research Center, University of California, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 70:1333-40. 2002
    ..11, the latter representing a recently characterized region for type 2 diabetes. Besides these three loci, loci on chromosomes 2p and 3p showed linkage in the families with low HDL-C and a locus on 2ptel in the families with FCHL...
  86. ncbi Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1)
    Paivi Pajukanta
    Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Los Angeles, California 90095 7088, USA
    Nat Genet 36:371-6. 2004
    ..USF1 encodes a transcription factor known to regulate several genes of glucose and lipid metabolism...
  87. ncbi High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH
    J Aaltonen
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Genome Res 7:820-9. 1997
    ..These data will facilitate the final cloning of the APECED gene and any other novel gene in this complex genomic region...
  88. ncbi Identification of a variant associated with adult-type hypolactasia
    Nabil Sabri Enattah
    Department of Molecular Medicine, National Public Health Institute, Haartmaninkatu 8, PO Box 104, Fin 00251 Helsinki, Finland
    Nat Genet 30:233-7. 2002
    ..That the variant (C/T-13910) occurs in distantly related populations indicates that it is very old...
  89. pmc A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27
    Mari Auranen
    Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland
    Am J Hum Genet 71:777-90. 2002
    ....
  90. ncbi AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype
    Maria Halonen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Haartmaninkatu 8, FIN 00290 Helsinki, Finland
    J Clin Endocrinol Metab 87:2568-74. 2002
    ..We conclude that mutation of AIRE per se has little influence on the APECED phenotype, whereas, in contrast to earlier reports, HLA class II is a significant determinant...
  91. pmc MYO9B polymorphisms in multiple sclerosis
    Anu Kemppinen
    Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, FIMM, Helsinki, Finland
    Eur J Hum Genet 17:840-3. 2009
    ..Our results thereby do not support a major function of the tested MYO9B variants in MS...
  92. ncbi Isolates and their potential use in complex gene mapping efforts
    Teppo Varilo
    Department of Molecular Medicine, National Public Health Institute, Haartmaninkatu 8, 00290 Helsinki, Finland
    Curr Opin Genet Dev 14:316-23. 2004
    ..Conversely, ignoring genealogical makeup of the study population seems to disclose false negative and false positive associations, directing resources down the drain...
  93. ncbi Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease
    Niklas Pakkasjärvi
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    J Neurobiol 65:269-81. 2005
    ..These data provide valuable information about the molecular pathways putatively active in motoneuron diseases...
  94. ncbi Molecular background of the Finnish disease heritage
    L Peltonen
    Department of Human Molecular Genetics, University of Helsinki, National Public Health Institute, Finland
    Ann Med 29:553-6. 1997
    ..Detailed analyses of these disease genes and their function have provided new insights into the structure and function of defective proteins as well as into the biology of affected tissues...
  95. ncbi Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium
    P Pekkarinen
    National Public Health Institute and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Genomics 54:307-15. 1998
    ..These results lay the basis for the cloning of this novel dementia gene and for diagnostics in the Finnish population using haplotype analysis...
  96. ncbi Replication of 1q42 linkage in Finnish schizophrenia pedigrees
    J Ekelund
    National Public Health Institute, Department of Molecular Medicine, Helsinki, Finland
    Mol Psychiatry 9:1037-41. 2004
    ..This replicates the previous linkage finding in the same region and constitutes supportive evidence for a susceptibility gene in this region...
  97. ncbi Dissecting a population genome for targeted screening of disease mutations
    T Pastinen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, 00250 Helsinki, Finland
    Hum Mol Genet 10:2961-72. 2001
    ..Such precise information of the carrier frequencies could form the basis for targeted genetic screens in this population. Our approach describes a general paradigm for large-scale carrier-screening programs also in other populations...
  98. pmc Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    I Jarvela
    Department of Human Molecular Genetics, National Public Health Institute, Finland
    Am J Hum Genet 63:1078-85. 1998
    ..Surprisingly, the LPH gene was shown to lie outside the critical CLD region, excluding it as a causative gene for CLD. The LPH locus was found to reside >2 Mb from the critical CLD region...
  99. ncbi Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15
    J Schleutker
    Department of Medical Genetics, University of Turku, Finland
    Genomics 27:286-92. 1995
    ..Linkage disequilibrium facilitated further restriction of the critical chromosomal region to approximately 80 kb, well within the limits of positional cloning techniques...
  100. pmc Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus
    K Nikali
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Am J Hum Genet 56:1088-95. 1995
    ..The results showed the power of linkage disequilibrium in the locus assignment of diseases with very limited family materials...
  101. ncbi Linkage disequilibrium between the MBP tetranucleotide repeat and multiple sclerosis is restricted to a geographically defined subpopulation in Finland
    H Pihlaja
    Department of Neurolofy, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
    Genes Immun 4:138-46. 2003
    ....