Speurtocht naar genetische
varianten
Het NTR neemt via verschillende consortia
deel aan grote onderzoeken waarbinnen wordt gezocht naar genetische
varianten voor erfelijk bepaalde complexe aandoeningen en eigenschappen. Dit
zijn onder
meer ENGAGE (European Network for Genetic and Genomic Epidemiology;
zie links onderaan de pagina), EAGLE (EArly Genetics and Lifecourse
Epidemiology), BBMRI (Biobanking
and Biomolecular
Resources Research Infrastructure), CMSB (Centre for Medical Systems Biology), NCA (Neuroscience Campus Amsterdam), EMGO+ (Extramuraal Geneeskundig Onderzoek), PGC (Psychiatric GWAS Consortium) en genomEUtwin.
Sinds 2009 verscheen een groot aantal publicaties waarin genen zijn gevonden voor o.a. diabetes, rookverslaving, depressie, geboortegewicht en gewicht later in het leven.
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Aulchenko et al. for the ENGAGE Consortium. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 41(1):47-55, 2009
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Beek et al. Associations between ADH gene variants and alcohol phenotypes in Dutch adults. Twin Res Hum Genet 13(1):30-42, 2010
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Benyamin et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet 41(11):1173-5, 2009
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Bochdanovits et al. Joint reanalysis of 29 correlated SNPs supports the role of PCLO/Piccolo as a causal risk factor for major depressive disorder. Mol Psychiatry 14(7):650-2, 2009
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Bosker et al. Poor replication of candidate genes for major depressive disorder using genome-wide association data. Mol Psychiatry 2010, epub
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Demirkan et al. Genetic risk profiles for depression and anxiety in adult and elderly cohorts. Mol Psychiatry 2010, epub
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Dupuis J. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 42(2):105-16, 2010. Erratum in: 42(5):464
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Estrada et al. A genome-wide association study of northwestern Europeans involves the CNP signaling pathway in the etiology of human height variation. Hum Mol Genet:3516-24, 2009
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Ferreira et al. Sequence variants in three loci influence monocyte counts and erythrocyte volume. Am J Hum Genet 85(5):745-9, 2009
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Freathy et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet 42(5):430-5, 2010
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GIANT consortium. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 2010, in press
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't Hart LM, et al. Combined risk allele score of eight type 2 diabetes genes is associated with reduced first phase glucose stimulated insulin secretion during hyperglycaemic clamps.
Diabetes 59(1):287-92, 2010
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Lind et al. A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. Twin Res Hum Genet 13(1):10-29, 2010
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Liu Y et al. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Mol Psych 2010, epub
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McEvoy et al. Geographical structure and differential natural selection amongst North European populations. Genome Res 19(5):804-14, 2009
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Middeldorp et al. Anxiety and depression in children and adults: influence of serotonergic and neurotrophic genes? Genes, Brain, Behavior, 2010, epub
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Moor et al. Genome-wide association study of leisure-time exercise behavior in Dutch and American adults. Med Sci Sports Exerc 41(10): 1887-1895, 2009
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Pardo et al. Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. Eur J Hum Genet 17(6):802-10, 2009
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Perlis RH et al. Genome-wide Association Study of Suicide Attempts in Mood Disorder Patients. The American Journal of Psychiatry, 2010, in press
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Prokopenko et al. Variants in the melatonin receptor 1B gene (MTNR1B) influence fasting glucose levels, Nat Genet 41(1):77-81, 2009
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Simonis-Bik et al. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A and MTNR1B affect different aspects of pancreatic beta cell function.
Diabetes, 59(1):293-301, 2010
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Sullivan et al. Genome wide association for major depressive disorder: A possible role for the presynaptic protein piccolo. Mol Psychiatry 14:359–75, 2009
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Terracciano et al. Genome-wide association scan for five major dimensions of personality. Molecular Psychiatry, 15, 647–656 , 2010
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Teslovich et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466(7307): 707-13, 2010
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Thorgeirsson et al. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 42(5):448-53, 2010
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The Tobacco and Genetics Consortium. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet 42(5):441-7, 2010
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Vink et al. Genome-wide association study of smoking initiation and current smoking. Am J Hum Genet 84(3):367-79, 2009
Links
http://www.euengage.org/index.html
http://www.cmsb.nl/home/index.php
http://www.neurosciencecampus-amsterdam.nl/en/index.asp
http://www.genomeutwin.org/
http://wiki.genepi.org.au/display/EAGLE/EAGLE