2025
Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients
Ribeiro A, Coutinho E, Syed N, Bastos M, Bacelar C, Costa C, Freitas P, Gomes L, Agapito A, Fonseca F, Amaral D, Carvalho D, Sampaio M, Pereira B, Antunes A, Leite V, Castro J, Barros L, Pina R, Martins S, Martinho M, Martins D, Luiz H, Mirante A, Lopes L, Limbert C, Pereira C, Gomes M, Cardoso H, Dinis I, Paiva S, Gonçalves C, Saraiva L, Lemos M. Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients. The Journal Of Clinical Endocrinology & Metabolism 2025, dgaf377. PMID: 40554621, DOI: 10.1210/clinem/dgaf377.Peer-Reviewed Original ResearchVariants of Uncertain SignificanceGH deficiencyWhole-exome sequencingGrowth hormoneGH-deficient patientsSevere short statureProportion of patientsHypothalamic-pituitary developmentMulticentre cohortDigenic mutationsShort statureGenetic spectrumExome sequencingPortuguese cohortRecurrent mutationsNF1 genePatientsGenetic architectureGenetic mutationsGenetic causeSanger sequencingGenetic heterogeneityGenetic basisCohortCausative factorsTargeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
Chapman N, Navas P, Dorschner M, Mehaffey M, Wigg K, Price K, Naumova O, Kerr E, Guger S, Lovett M, Grigorenko E, Berninger V, Barr C, Wijsman E, Raskind W. Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts. PLOS ONE 2025, 20: e0324006. PMID: 40424442, PMCID: PMC12112411, DOI: 10.1371/journal.pone.0324006.Peer-Reviewed Original ResearchConceptsEvidence of associationLarge-scale sequencing studiesCis-acting regulatory regionsGenome-wide association studiesAggregating rare variantsRare exonic variantsDetected significant evidenceSingle nucleotide polymorphismsGenomic variationDeleterious variantsAssociated with reduced performanceAssociation studiesLarge-effectRegulatory elementsTranscriptional regulationRegulatory regionsQuantitative phenotypesCandidate genesExonic variantsChromosome 6Sequencing studiesSingle variantsCoding exonsMultiple traitsGenetic basisDecoding human brain evolution: Insights from genomics
Liu Y, Li M, Segal A, Zhang M, Sestan N. Decoding human brain evolution: Insights from genomics. Current Opinion In Neurobiology 2025, 92: 103033. PMID: 40334295, DOI: 10.1016/j.conb.2025.103033.Peer-Reviewed Original ResearchConceptsHuman brain evolutionNonhuman primatesBrain evolutionHigh-throughput functional screeningSingle-cell resolutionAdvanced cognitive abilitiesGenetic basisCognitive abilitiesFunctional screeningGenetic changesGenetic underpinningsBrain featuresLiving relativesHuman-specific featuresComprehensive atlasGenomic profilingHuman brainFunctional specializationMolecular levelIdentifying Genetic Variants for Brain Connectivity Using Ball Covariance Ranking and Aggregation
Dai W, Zhang H. Identifying Genetic Variants for Brain Connectivity Using Ball Covariance Ranking and Aggregation. Journal Of The American Statistical Association 2025, ahead-of-print: 1-19. DOI: 10.1080/01621459.2025.2450837.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsDetect single nucleotide polymorphismsGene-based analysisControlling false discovery rateControlling false discoveriesSNP setsFunctional connectivityFalse discovery rateGenetic architectureNovel genesGenetic basisNucleotide polymorphismsGenetic variantsUK Biobank dataPsychiatric disordersDiscovery rateBrain functionFalse discoveriesBiobank dataCorrelations of neural activityBrain regionsBiological etiologyBrain connectivityEQTLNeural activityChapter 14 Molecular biology, genetic, and epigenetics of kidney tumor
Kazemi R, Rezaeian A, Deyhimfar R, Taheri D. Chapter 14 Molecular biology, genetic, and epigenetics of kidney tumor. 2025, 209-221. DOI: 10.1016/b978-0-443-27302-5.00003-6.Peer-Reviewed Original ResearchDNA damage repair genesKidney cancer developmentRenal cell carcinomaTumor suppressor genePlanning therapeutic strategiesRenal tumorsUrothelial carcinomaWilms tumorCell carcinomaRenal sarcomaKidney tumorsClinical manifestationsUrological cancersKidney cancerPredisposing genesSuppressor geneTherapeutic strategiesCancer developmentTumorRepair genesCancerCarcinomaKidneyGenetic basisGenetic changes
2024
Sex-stratified Genomic Structural Equation Models of Posttraumatic Stress Inform PTSD Etiology: L'utilisation de la modélisation génomique par équations structurelles stratifiée par sexe du stress post-traumatique pour expliquer l'étiologie du TSPT
Moo-Choy A, Stein M, Gelernter J, Wendt F. Sex-stratified Genomic Structural Equation Models of Posttraumatic Stress Inform PTSD Etiology: L'utilisation de la modélisation génomique par équations structurelles stratifiée par sexe du stress post-traumatique pour expliquer l'étiologie du TSPT. The Canadian Journal Of Psychiatry 2024, 70: 117-126. PMID: 39654303, PMCID: PMC11629358, DOI: 10.1177/07067437241301016.Peer-Reviewed Original ResearchGenome-wide association studiesGenome-wide significant lociSignificant lociMultivariate genome-wide association studyIndividuals of European ancestryPosttraumatic stress disorderGenomic structural equation modelingPosttraumatic stressUK Biobank (UKBAssociation studiesGenetic basisSymptom combinationsEtiological differencesSex-specific patternsEuropean ancestryAssociation dataPosttraumatic stress disorder diagnosisPosttraumatic stress disorder symptomsSex differencesLociInvestigation of sex differencesGeneticsSymptom etiologyModel of maleTraumatic eventsCase report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali
Bamba S, Sidibé L, Diallo S, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé M, Diarra S, Maiga A, Traoré O, Diallo S, Mefoung S, Touré A, Koné A, Jeffries L, Guinto C, Mis E, Fischbeck K, Khokha M, Lakhani S, Landouré G. Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers In Genetics 2024, 15: 1412442. PMID: 39624497, PMCID: PMC11609193, DOI: 10.3389/fgene.2024.1412442.Peer-Reviewed Original ResearchWhole-exome sequencingGenetic basisIdentified rare variantsIn silico prediction analysisCompound heterozygous variantsPutative variantsIn silico toolsACMG criteriaExome sequencingProtein structureNovel variantsEpileptic encephalopathyAssess pathogenicityHeterozygous variantsRare variantsHomozygous variantSub-Saharan AfricaDisease mechanismsAssociated with earlier onsetRefractory to antiepileptic medicationsResistant to treatmentGroup of neurological disordersMalian familyEarly-onset seizuresPotential clinical implicationsMassively parallel approaches for characterizing noncoding functional variation in human evolution
Rong S, Root E, Reilly S. Massively parallel approaches for characterizing noncoding functional variation in human evolution. Current Opinion In Genetics & Development 2024, 88: 102256. PMID: 39217658, PMCID: PMC11648527, DOI: 10.1016/j.gde.2024.102256.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCis-regulatory elementsFunction of cis-regulatory elementsImpact of sequence variantsHigh-throughput approachNoncoding variationGenome functionNoncoding regionsSequence variantsPhenotypic consequencesCRISPR screensGenetic basisGenetic variantsGenetic differencesDiverse phenotypesGene expressionRegulatory functionsHuman evolutionFunctional variationGenomeUnique phenotypePhenotypeRegulatory impactModel systemVariantsGenesCombining short- and long-read sequencing unveils geographically structured diversity in Borrelia miyamotoi
Hoornstra D, Kuleshov K, Fingerle V, Hepner S, Wagemakers A, Strube C, Castillo-Ramírez S, Bockenstedt L, Telford S, Sprong H, Platonov A, Margos G, Hovius J. Combining short- and long-read sequencing unveils geographically structured diversity in Borrelia miyamotoi. IScience 2024, 27: 110616. PMID: 39262806, PMCID: PMC11388275, DOI: 10.1016/j.isci.2024.110616.Peer-Reviewed Original ResearchComparative whole-genome sequencingCombination of IlluminaLong-read sequencingGenetically distinct populationsGenome assemblyPacBio platformPlasmid typesCore plasmidHuman pathogensGenetic basisDistinct populationsExpression sitesPlasmidGeographical originIxodes speciesGenomeIsolatesTick-borne human pathogenVector competenceStructural diversityNorth AmericaBorrelia miyamotoiPacBioIlluminaVirulenceAdvancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
Franceschini N, Feldman D, Berg J, Besse W, Chang A, Dahl N, Gbadegesin R, Pollak M, Rasouly H, Smith R, Winkler C, Gharavi A, Group N, Ars E, Bekheirnia M, Bier L, Bleyer A, Fuller L, Halbritter J, Harris P, Kiryluk K, Knoers N, Kopp J, Kramer H, Lagas S, Lieske J, Lu W, Mannon R, Markowitz G, Moe O, Nadkarni G, Nast C, Parekh R, Pei Y, Reed K, Rehm H, Richards D, Roberts M, Sabatello M, Salant D, Sampson M, Sanna-Cherchi S, Santoriello D, Sedor J, Sneddon T, Watnick T, Wilfond B, Williams W, Wong C. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group. American Journal Of Kidney Diseases 2024, 84: 751-766. PMID: 39033956, PMCID: PMC11585423, DOI: 10.1053/j.ajkd.2024.05.010.Peer-Reviewed Original ResearchGenetic testingAllied health professionalsImplementation of genetic testingModified Delphi processChronic kidney diseaseScreening of kidney diseasesHealth professionalsWorking GroupKidney diseaseGenetic risk factorsDelphi processWorking group of expertsNational Kidney FoundationPolygenic causeDisease of multiple causesClinical decisionsRisk factorsGroup of expertsCause of kidney diseaseKidney FoundationGenetic basisMultiple causesGroup consensusGenetic causeMonogenic disordersJoint modeling of human cortical structure: Genetic correlation network and composite-trait genetic correlation
Shen J, Zhang Y, Zhu Z, Cheng Y, Cai B, Zhao Y, Zhao H. Joint modeling of human cortical structure: Genetic correlation network and composite-trait genetic correlation. NeuroImage 2024, 297: 120739. PMID: 39009250, PMCID: PMC11367654, DOI: 10.1016/j.neuroimage.2024.120739.Peer-Reviewed Original ResearchGenetic networksComplex traitsGenetic architecture of complex traitsArchitecture of complex traitsGenome-wide association analysisGenetic correlationsGenetic architectureGenetic variationAssociation analysisGenetic basisPhenotypic similarityGenetic effectsFunctional variationRight hemisphereBrain regionsUK BiobankCortical thicknessTraitsCortical measuresCorrelation networkSignificant pairsHeritabilitySimilarity matrixBrainBrain lobesUnilateral focal palmoplantar keratoderma associated with a postzygotic variant in PIK3CA and activation of the PI3K/AKT/mTOR pathway.
Gong Z, Peng S, Wang H, Jiang X, Ke X, Lin Z. Unilateral focal palmoplantar keratoderma associated with a postzygotic variant in PIK3CA and activation of the PI3K/AKT/mTOR pathway. European Journal Of Dermatology 2024, 34: 287-293. PMID: 39015962, DOI: 10.1684/ejd.2024.4704.Peer-Reviewed Original ResearchConceptsFocal palmoplantar keratodermaLaser capture microdissectionIdentified missense variantsPalmoplantar keratodermaWhole-exome sequencingMissense variantsGenomic DNASomatic variantsGenetic basisSanger sequencingMolecular dockingPostzygotic variantsBiological processesPI3K/AKT/mTOR pathwayPhenotypic heterogeneityEpidermal nevusPatient's peripheral bloodCongenital overgrowth disorderVariantsPIK3CASequencePeripheral bloodPI3K/Akt/mTOR signalingAffected epidermisOvergrowth disorderUpdate 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 ResearchConceptsGenome-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 pressurePRDM6SequenceVariantsA noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children
de Smith A, Wahlster L, Jeon S, Kachuri L, Black S, Langie J, Cato L, Nakatsuka N, Chan T, Xia G, Mazumder S, Yang W, Gazal S, Eng C, Hu D, Burchard E, Ziv E, Metayer C, Mancuso N, Yang J, Ma X, Wiemels J, Yu F, Chiang C, Sankaran V. A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. Cell Genomics 2024, 4: 100526. PMID: 38537633, PMCID: PMC11019360, DOI: 10.1016/j.xgen.2024.100526.Peer-Reviewed Original ResearchHispanic/Latino childrenNon-Hispanic white individualsHigher risk of acute lymphoblastic leukemiaRisk of acute lymphoblastic leukemiaNoncoding regulatory variantsFine-mapping analysisAcute lymphoblastic leukemia riskAcute lymphoblastic leukemiaEvidence of selectionIndigenous American ancestryReduced enhancer activityRisk allele frequenciesIncreased ALL riskRegulatory variantsHispanic/Latino individualsPro-B CellsHispanic/Latino populationRacial/ethnic groupsDownstream enhancerGenetic basisLeukemia riskWhite individualsAllele frequenciesAmerican ancestryALL riskBayesian mixed model inference for genetic association under related samples with brain network phenotype
Tian X, Wang Y, Wang S, Zhao Y, Zhao Y. Bayesian mixed model inference for genetic association under related samples with brain network phenotype. Biostatistics 2024, 25: 1195-1209. PMID: 38494649, PMCID: PMC11639157, DOI: 10.1093/biostatistics/kxae008.Peer-Reviewed Original ResearchSample relatednessGenetic studiesGenetic association studiesRisk genetic variantsImaging genetics studiesPopulation structureAssociation studiesQuantitative phenotypesQuantitative geneticsGenetic basisGenetic variantsGenetic associationGenetic contributionPhenotypeRelatednessConnectivity traitsNetwork phenotypesConnectivity phenotypesMarkov chain Monte CarloMixed-effects modelsPedigreeGeneticsBiological structuresTraitsHuman Connectome ProjectLoss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation
Jiang X, Yang C, Wang Z, Liang L, Gong Z, Huang S, Xu Z, Zhang B, Pei X, Cai L, Wang H, Lin Z. Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. British Journal Of Dermatology 2024, 191: 107-116. PMID: 38489583, DOI: 10.1093/bjd/ljae108.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsMNT-1 cellsMinigene assaySkin hyperpigmentationGlomuvenous malformationsSkin lesionsUpregulation of microphthalmia-associated transcription factorSmall interfering RNA assaysMicrophthalmia-associated transcription factorDonor splice siteGeneralized skin hyperpigmentationWhole-exome sequencingProportion of stage IIIPhosphorylated p70S6KHyperpigmented skin disordersHyperpigmented skin lesionsSplice siteSplicing alterationsGenetic basisGenetic heterogeneityTranscription factorsSanger sequencingUnrelated familiesPremelanosome proteinSkin melanogenesisThe genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Hale A, Boudreau H, Devulapalli R, Duy P, Atchley T, Dewan M, Goolam M, Fieggen G, Spader H, Smith A, Blount J, Johnston J, Rocque B, Rozzelle C, Chong Z, Strahle J, Schiff S, Kahle K. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact. Fluids And Barriers Of The CNS 2024, 21: 24. PMID: 38439105, PMCID: PMC10913327, DOI: 10.1186/s12987-024-00513-z.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidOverview of genesEtiology of HCPathogenesis of HCChoroid plexus cauterizationEndoscopic third ventriculostomyIncreased intracranial pressureGenetic architectureGenetic basisImpact of geneticsVentricular shuntSurgical treatmentThird ventriculostomyPhenotypic heterogeneityHeterogeneous diseasePharmacological treatmentGenetic syndromesMolecular pathogenesisIntracranial pressureHydrocephalusTherapeutic measuresGenesGeneticsBrain injuryPathway
2023
Genome-wide analyses reveal shared genetic architecture and novel risk loci between opioid use disorder and general cognitive ability
Holen B, Kutrolli G, Shadrin A, Icick R, Hindley G, Rødevand L, O'Connell K, Frei O, Parker N, Tesfaye M, Deak J, Jahołkowski P, Dale A, Djurovic S, Andreassen O, Smeland O. Genome-wide analyses reveal shared genetic architecture and novel risk loci between opioid use disorder and general cognitive ability. Drug And Alcohol Dependence 2023, 256: 111058. PMID: 38244365, PMCID: PMC11831617, DOI: 10.1016/j.drugalcdep.2023.111058.Peer-Reviewed Original ResearchGenetic basisBivariate causal mixture modelRisk lociGenome-wide analysisNovel risk lociNegative genetic correlationSpecific genetic lociUnderlying molecular mechanismsGenetic risk architectureSpecific genetic variantsGenetic architectureGenetic lociBiological functionsMolecular mechanismsGenetic relationshipsLociGenetic correlationsGenetic variantsGenetic overlapRisk architectureConjunctional FDRNew insightsRecent studiesBiological substratesGenesExamination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects.
Casanova N, Camp S, Gonzalez-Garay M, Batai K, Garman L, Montgomery C, Ellis N, Kittles R, Bime C, Hsu A, Holland S, Lussier Y, Karnes J, Sweiss N, Maier L, Koth L, Moller D, Kaminski N, Garcia J. Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects. European Journal Of Respiratory Medicine 2023, 5: 359-371. PMID: 38390497, PMCID: PMC10883688, DOI: 10.31488/ejrm.137.Peer-Reviewed Original ResearchExpression quantitative trait lociGenome-wide association studiesEQTL SNPsGenome-wide association study cohortsInnate immunityQuantitative trait lociAllograft rejection pathwayGWAS SNPsIndependent sarcoidosis cohortTrait lociAssociation studiesGenetic basisComplicated sarcoidosisSNPsHLA regionAfrican AmericansSarcoidosis riskSeverity of sarcoidosisGranulomatous inflammatory diseaseMHC class IISystemic granulomatous inflammatory diseaseEuropean AmericansSarcoidosis cohortVariants/genesPoolUneven burden of cardiac amyloidosis in people of African descent — global imbalance in resources and access
Madu E, Mezue K. Uneven burden of cardiac amyloidosis in people of African descent — global imbalance in resources and access. BMC Global And Public Health 2023, 1: 15. PMID: 39681929, PMCID: PMC11622854, DOI: 10.1186/s44263-023-00016-3.Peer-Reviewed Original ResearchTTR-CABlack populationHealthcare financing mechanismsPublic health budgetsCardiac amyloidosisGlobal health equityAt-risk populationsHeart failureHealth literacyHealth equityHealth workersTransthyretin cardiac amyloidosisHealth budgetDiastolic heart failureImprove accessPoor awarenessWest African ancestryDisease RegistryCenters of excellenceInternational Center of ExcellenceUneven burdenFinancial remunerationCaribbean populationGenetic basisAfrican ancestry
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