2024
Update in genetic and epigenetic causes of hypertension
Mani A. Update in genetic and epigenetic causes of hypertension. Cellular And Molecular Life Sciences 2024, 81: 201. PMID: 38691164, PMCID: PMC11062952, DOI: 10.1007/s00018-024-05220-4.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsEpigenesis, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypertensionConceptsGenome-wide association studiesProtein-coding sequencesGWAS-identified lociGWAS-identified genesHuman Genome ProjectEpigenetic mechanism of actionActual genesGenome ProjectAssociation studiesGenetic variationPolygenic formsGenetic basisGenetic variantsEpigenetic mechanismsHeritable diseaseEpigenetic causesPolygenic causeGenesLociPotential targetMechanism of actionManagement of blood pressurePRDM6SequenceVariants
2021
Identification of homozygous mutations for hearing loss
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A. Identification of homozygous mutations for hearing loss. Gene 2021, 778: 145464. PMID: 33524517, PMCID: PMC7987747, DOI: 10.1016/j.gene.2021.145464.Peer-Reviewed Original ResearchConceptsAutosomal recessive nonsyndromic deafnessWhole-exome sequencingEfficacy of WESHomozygous mutationGenetic screeningSanger sequencingCause of deafnessConsanguineous unionsNew pathogenic mutationsCommon sensory disorderMissense mutationsHigh prevalenceSensory disordersHomozygous missense mutationIranian populationEarly screeningNovel therapeuticsSingle gene disordersExome sequencingMajor genetic componentESRRB genePathogenic mutationsSpectrum of genesFuture genetic screeningRecessive fashion
2019
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Tóth M, Belfort-DeAguiar R, Kibbey RG, Mani A. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. Nature Genetics 2019, 51: 1233-1243. PMID: 31358993, PMCID: PMC6675645, DOI: 10.1038/s41588-019-0470-3.Peer-Reviewed Original ResearchConceptsEarly-onset atherosclerosisMetabolic syndromeMetabolic syndrome traitsWhole-exome sequence analysisAttractive therapeutic targetPlatelet hyperactivationInsulin levelsPlasma insulinPlasma levelsInsulin sensitivityInsulin secretionTherapeutic targetPlatelet activationDisease mechanismsSyndrome traitsAtherosclerosisFunction mutationsSyndromeNovel lossInsulinMutationsSecretion
2017
Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT
Ziki M, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A. Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT. Clinical Genetics 2017, 93: 741-751. PMID: 28407228, PMCID: PMC5640462, DOI: 10.1111/cge.13036.Peer-Reviewed Original ResearchConceptsLong QT syndromeSCN10A mutationsWhole-exome sequencingVoltage-gated sodium channel geneCongenital long QT syndromeHistory of palpitationsQT prolonging medicationsLife-threatening complicationsIdiopathic long QT syndromeProtein-altering mutationsSodium channel geneConfirmatory Sanger sequencingMutation burden analysisGenetic programAtrial fibrillationIdentifiable causeProlonged QTChannel genesMutation carriersArrhythmia genesQT syndromeGenesLQTS genesFrameshift mutationGenetic causeApplication of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingSudden cardiac deathCardiovascular diseaseClinical diagnosisExome sequencingCardiac deathInherited cardiovascular diseaseCentre of careNovel candidate genesValuable screening toolAdult patientsRisk stratificationPrimary insultCardiac functionGenetic testingScreening toolDiagnosisCVD genesGenetic causeCardiovascular geneticsGenetic panelSuccess rateExome databasesPotential disease associationsPatients
2016
Metabolic syndrome
Ziki M, Mani A. Metabolic syndrome. Current Opinion In Lipidology 2016, 27: 162-171. PMID: 26825138, PMCID: PMC5141383, DOI: 10.1097/mol.0000000000000276.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMetabolic SyndromeConceptsMetabolic traitsGenome-wide association studiesCognate pathwaysDiverse traitsMultifactorial heritabilityDisease genesAssociation studiesGenetic studiesTraitsGenetic investigationsCommon variantsDisease mechanismsGenetic causeGenetic risk factorsHomogenous populationDisease pathophysiologyQuantitative distributionGenesVariantsHeritabilityExtreme endsSubstantial progressKindredsPathwayLarge effect
2015
The Protective Effect of Transcription Factor 7-Like 2 Risk Allele rs7903146 against Elevated Fasting Plasma Triglyceride in Type 2 Diabetes: A Meta-Analysis
Wang S, Song K, Srivastava R, Fathzadeh M, Li N, Mani A. The Protective Effect of Transcription Factor 7-Like 2 Risk Allele rs7903146 against Elevated Fasting Plasma Triglyceride in Type 2 Diabetes: A Meta-Analysis. Journal Of Diabetes Research 2015, 2015: 468627. PMID: 26576435, PMCID: PMC4631899, DOI: 10.1155/2015/468627.Peer-Reviewed Original ResearchMeSH KeywordsAllelesDiabetes Mellitus, Type 2FastingGenetic Predisposition to DiseaseHumansTranscription Factor 7-Like 2 ProteinTriglyceridesConceptsType 2 diabetesTranscription factor 7Rs7903146 variantNondiabetic subjectsMinor alleleHeterozygote comparison modelHDL-C levelsLower plasma triglyceride levelsTCF7L2 rs7903146 polymorphismFactor 7Plasma lipid levelsPlasma triglyceride levelsVariant rs7903146Metabolic syndromeRs7903146 polymorphismPlasma lipidsTG levelsTriglyceride levelsPlasma triglyceridesLipid levelsProtective effectLower riskElectronic databasesType 2Meta-Analysis