2012
Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure
Gaál EI, Salo P, Kristiansson K, Rehnström K, Kettunen J, Sarin AP, Niemelä M, Jula A, Raitakari OT, Lehtimäki T, Eriksson JG, Widen E, Günel M, Kurki M, von und zu Fraunberg M, Jääskeläinen JE, Hernesniemi J, Järvelin MR, Pouta A, , Newton-Cheh C, Salomaa V, Palotie A, Perola M. Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure. PLOS Genetics 2012, 8: e1002563. PMID: 22438818, PMCID: PMC3305343, DOI: 10.1371/journal.pgen.1002563.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlood PressureChromosomes, Human, Pair 5Cohort StudiesFemaleFinlandGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntracranial AneurysmMaleMiddle AgedMuscle ProteinsMyocytes, Smooth MusclePolymorphism, Single NucleotideRisk FactorsTranscription FactorsZinc FingersConceptsSystolic blood pressureBlood pressureSystolic BPRisk factorsIntracranial aneurysmsElevated systolic blood pressurePopulation-based Finnish cohortsDiastolic blood pressureHigher systolic BPMean arterial pressureTraditional risk factorsVascular smooth muscle cellsStrong risk factorCommon risk factorsQuantitative outcome variablesVascular wall structureSmooth muscle cellsGenome-wide association studiesArterial pressureCerebral arteryPulse pressureFinnish cohortComplex diseasesMuscle cellsRisk alleles
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree