0000000000639976

AUTHOR

Christine Schmäl

showing 3 related works from this author

Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.

2013

Abstract Background Dysfunctions of serotonergic neurotransmission are supposed to be involved in the pathogenesis of psychiatric disorders such as major depressive disorder (MDD). The concentration of serotonin (5-hydroxytryptamine, 5-HT) in the synaptic cleft is essentially regulated by the 5-HT transporter (5-HTT). A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. Methods Genotyping of the 5-HTTLPR is time-consuming and technically challenging. Recently, a two-SNP haplotype was identified that tags the 5-HTTLPR at r 2 =0.775. This allows extraction of 5-HTTLPR genotype information from…

AdultMaleLinkage disequilibriumSynaptic cleftGenotypeSingle-nucleotide polymorphismGenome-wide association studyPolymorphism Single NucleotideGermanygenetics [Haplotypes]mental disordersGenotypegenetics [Serotonin Plasma Membrane Transport Proteins]medicineHumansGenetic Predisposition to Diseaseddc:610GeneticsSerotonin Plasma Membrane Transport ProteinsDepressive Disorder MajorSLC6A4 protein humanHaplotypegenetics [Depressive Disorder Major]Middle Agedmedicine.diseasePsychiatry and Mental healthClinical PsychologyHaplotypes5-HTTLPRCase-Control Studiesgenetics [Polymorphism Single Nucleotide]Major depressive disorderFemalePsychologyClinical psychologyGenome-Wide Association StudyJournal of affective disorders
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XRCC5 as a Risk Gene for Alcohol Dependence : Evidence from a Genome-Wide Gene-Set-Based Analysis and Follow-up Studies in Drosophila and Humans

2015

Genetic factors play as large a role as environmental factors in the etiology of alcohol dependence. Although genome-wide association studies (GWAS) enable systematic searches for loci not hitherto implicated in the etiology of alcohol dependence, many true findings may be missed due to correction for multiple testing. The aim of the present study was to circumvent this limitation by searching for biological system-level differences, and then following up these findings in humans and animals. Gene-set based analysis of GWAS data from 1333 cases and 2168 controls identified 19 significantly associated gene-sets of which five could be replicated in an independent sample. Clustered in these ge…

MaleRiskAdolescentMedizinGenome-wide association studyBiologyPolymorphism Single NucleotideWhite PeopleAnimals Genetically ModifiedRNA interferenceGermanyGenetic variationAnimalsHumansGene silencingGenetic Predisposition to DiseaseKu AutoantigenGeneGenetic associationPharmacologyGeneticsEthanolAlcohol dependenceDNA HelicasesCentral Nervous System DepressantsPhenotypeAlcoholismPsychiatry and Mental healthDrosophila melanogasterFemaleOriginal ArticleFollow-Up StudiesGenome-Wide Association Study
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Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster

2011

Alcohol dependence (AD) is an important contributory factor to the global burden of disease. The etiology of AD involves both environmental and genetic factors, and the disorder has a heritability of around 50%. The aim of the present study was to identify susceptibility genes for AD by performing a genome-wide association study (GWAS). The sample comprised 1333 male in-patients with severe AD according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and 2168 controls. These included 487 patients and 1358 controls from a previous GWAS study by our group. All individuals were of German descent. Single-marker tests and a polygenic score-based analysis to assess the …

PharmacologyGeneticsPsychiatry and Mental healthLinkage disequilibriumPolymorphism (computer science)Gene clusterMedicine (miscellaneous)SNPADH1BSingle-nucleotide polymorphismGenome-wide association studyBiologyHeritabilityAddiction Biology
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