Search results for "Association Studies Articles"

showing 3 items of 13 documents

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

2009

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 …

amyotrophic lateral sclerosisLinkage disequilibriumPopulationamyotrophic lateral sclerosis; genetics; GWASingle-nucleotide polymorphismGenome-wide association studyBiologyGWAPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineGenotypeGeneticsmedicineHumansPolymorphismAmyotrophic lateral sclerosiseducationMolecular BiologyGenetics (clinical)030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyGenomeSLA wide genome screeningGenome HumanAssociation Studies ArticlesCase-control studySingle NucleotideGeneral MedicineOdds ratiomedicine.diseaseSettore MED/26 - NEUROLOGIAAmyotrophic Lateral Sclerosis; genetics Case-Control Studies Genome; Human Genome-Wide Association Study Humans Polymorphism; Single NucleotideCase-Control Studies030217 neurology & neurosurgeryHumanGenome-Wide Association StudyHuman Molecular Genetics
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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible suscep…

2014

Item does not contain fulltext Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our disc…

genetics [Wnt3 Protein]Genome-wide association studyGenomeConserved sequenceMiceIntergenic regionMedizinische FakultätSALL1 protein humanGenetics (clinical)Conserved SequenceGeneticsgenetics [Wnt Proteins]Association Studies ArticlesGeneral Medicinegenetics [Transcription Factors]genetics [European Continental Ancestry Group]WNT3 protein humanReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]metabolism [Wnt3 Protein]Medical geneticsmedicine.medical_specialtygenetics [White People]WNT9B protein human-BiologyPolymorphism Single NucleotideWhite Peopleembryology [Genitalia]Wnt3 Proteinpathology [Bladder Exstrophy]metabolism [Wnt Proteins]genetics [Bladder Exstrophy]ddc:570GeneticsmedicineAnimalsHumansGenetic Predisposition to Diseaseddc:610GenitaliaMolecular BiologyGeneBase SequenceBladder ExstrophyCase-control studymedicine.diseasemetabolism [Genitalia]Bladder exstrophyWnt ProteinsReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Case-Control StudiesGenome-Wide Association StudyTranscription Factors
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Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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