Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.Peer-Reviewed Original ResearchConceptsInternational Collaborative Gaucher Group Gaucher RegistryType 1 Gaucher diseaseAvascular osteonecrosisRisk factorsDXA Z-scoresSurrogate markerZ-scoreDisease activityGaucher RegistryOdds ratioGaucher diseaseLow bone mineral densityOverall disease activityStrong risk factorPotential risk factorsBone mineral densityConditional logistic regressionSeverity of involvementNew risk factorsWhite blood cellsCase-control methodYear of birthGBA1 genotypeGD1 patientsRegistry patientsGenome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American Journal Of Hematology 2012, 87: 377-383. PMID: 22388998, PMCID: PMC3684025, DOI: 10.1002/ajh.23118.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCells, CulturedEpistasis, GeneticFemaleFibroblastsGaucher DiseaseGenome-Wide Association StudyGenotypeGermanyGlucosylceramidaseHomozygoteHumansJewsMacrophagesMaleMembrane ProteinsMiddle AgedMutation, MissensePhenotypePolymorphism, Single NucleotidePsychosineSeverity of Illness IndexConceptsGaucher diseaseType 1 Gaucher's diseaseMild Gaucher diseaseSevere disease categoryCandidate modifier genesGlucosylceramide-laden macrophagesAshkenazi Jewish patientsRisk allele ACultured skin fibroblastsEligible patientsMild diseaseOdds ratioSevere diseaseGBA1 mutationsPatientsJewish patientsDisease severityDisease categoriesCLN8 geneRisk allelesDiseaseN370S mutationSeveritySkin fibroblastsGenetic modifiers