2011
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk
Yasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernesniemi J, Schaller K, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 19707-19712. PMID: 22106312, PMCID: PMC3241810, DOI: 10.1073/pnas.1117137108.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesDiscovery cohortDisease-related lociReplication cohortSignificant associationEndothelin receptor type AGenomic regionsChromosome 12q22Genetic evidenceIndependent Japanese cohortsIntracranial aneurysm formationRisk lociA geneEvidence of associationAssociation studiesEndothelin pathwayAneurysm formationEndothelin signalingCardiovascular disordersJapanese cohortLociCohortCommon variantsGenetic factorsTreatment of IA
2010
Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms
Akiyama K, Narita A, Nakaoka H, Cui T, Takahashi T, Yasuno K, Tajima A, Krischek B, Yamamoto K, Kasuya H, Hata A, Inoue I. Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms. Journal Of Human Genetics 2010, 55: 656-661. PMID: 20613766, DOI: 10.1038/jhg.2010.82.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide single nucleotide polymorphismsAssociation studiesSusceptibility lociGenome-wide association studiesGenetic susceptibility lociActin remodelingSusceptibility genesGenetic effectsGenetic variantsNucleotide polymorphismsLociJapanese populationCase-control subjectsGenesPathwayPolymorphismPopulationRemodelingFurther investigationSex effectsVariantsGenome-wide association study of intracranial aneurysm identifies three new risk loci
Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics 2010, 42: 420-425. PMID: 20364137, PMCID: PMC2861730, DOI: 10.1038/ng.563.Peer-Reviewed Original ResearchMeSH KeywordsCell CycleCell ProliferationCohort StudiesEuropeFemaleGenome-Wide Association StudyGenotypeHemorrhageHumansIntracranial AneurysmJapanMaleModels, GeneticOdds RatioPolymorphism, Single Nucleotide
2009
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal Of Medical Genetics Part A 2009, 149A: 2569-2572. PMID: 19876906, DOI: 10.1002/ajmg.a.33063.Peer-Reviewed Original ResearchAbnormalities, MultipleArachnoid CystsBlood Specimen CollectionChromosome MappingChromosomes, Human, Pair 11DNADNA Copy Number VariationsFamilyFemaleGenome, HumanGenome-Wide Association StudyGenotypeHomozygoteHumansIntellectual DisabilityLissencephalyLod ScoreMalePedigreePhenotypePolymorphism, Single NucleotideSyndrome
2008
Susceptibility loci for intracranial aneurysm in European and Japanese populations
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von und zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Öhman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics 2008, 40: 1472-1477. PMID: 18997786, PMCID: PMC2682433, DOI: 10.1038/ng.240.Peer-Reviewed Original Research
2006
Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia
Yasuno K, Ando S, Misumi S, Makino S, Kulski JK, Muratake T, Kaneko N, Amagane H, Someya T, Inoko H, Suga H, Kanemoto K, Tamiya. Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 144B: 250-253. PMID: 17066476, DOI: 10.1002/ajmg.b.30443.Peer-Reviewed Original ResearchMeSH KeywordsAllelesFemaleGenetic Predisposition to DiseaseHumansIon ChannelsLogistic ModelsMaleMembrane Transport ProteinsMitochondrial ProteinsMitochondrial Uncoupling ProteinsModels, GeneticNerve Tissue ProteinsNeuronsPolymorphism, Single NucleotideSchizophreniaSoftwareUncoupling Protein 1Uncoupling Protein 2ConceptsNeuronal UCPsCase-control studyPathophysiology of schizophreniaHomozygous risk allelesLogistic regression analysisNeuroprotective effectsTag SNPsBrain tissueModest associationRisk allelesSchizophreniaOxidative stressMitochondrial uncoupling protein (UCP) geneMitochondrial dysfunctionImportant involvementSynergistic interactionUncoupling Protein GeneGenetic etiologySignificant synergistic interactionMultifactor dimensionality reduction methodRegression analysisMultiple comparisonsUCP2Synergistic associationAssociation