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AB090. MOG1, the genetic modifier at 20q13, delays the age-at-onset of glaucoma by 8 to 10 years

Annals of Eye Science 2018年第1期 496-496页

作者： Vincent Raymond Pascal Belleau rose arseneault Stéphane Dubois Jean-Louis Anctil Gilles Côté Marcel Amyot Fahed Elian Michael AWalter Québec Glaucoma Network Département d’ophtalmologie Centre de rechrechr du CHU de QuébecQuébecQCCanada

Background:Primary open-angle glaucoma(POAG)is a genetically complex disorder caused primarily by gene-gene *** identify these interactions,we studied the CA family,a large French-Canadian pedigree in which the myocilin K423E mutation(MYOCK423E)causes autosomal dominant glaucoma with diagnoses ranging from juvenile-onset OAG(JOAG)to late adult-onset POAG in the heterozygotes(HTZ).To explain this extreme variability,we hypothesized that a second gene,called a modifier,was interacting with MYOC,the primary disease *** goals were(I)to map the modifier on the human genome and;(II)to characterize the symptoms affected genetically by the *** symptoms are called ***:Three hundred seventy-five CA members were studied using four quantitative endophenotypes:age of maximal intra-ocular pressures(IOPmax),IOPs progression,progression of cup to disk ratios and age-at-onset(AAO)defined as age at which ocular hypertension(OHT)was first detected with IOP≥22 ***-wide linkage analysis was performed by genotyping 408 genetic markers in 184 CA *** unbiased pedigree-based algorithm was designed to identify the individuals who were double-mutants,i.e.,these individuals carried one MYOCK423E mutation(i.e.,they were HTZ,affected or not)and they also carry simultaneously a DNA mutation within the ***:Out of the 375 CA family members investigated,156 were HTZ for the MYOCK423E mutation.120 HTZ were affected with OAG or OHT with treatment while the remaining 36 HTZ were *** ranged from 7 to 63 years old;4 individuals over 50 years old were still *** preceded optic nerve damage in>98%of the HTZ carriers,confirming that AAO reflected the true severity of the *** modifier showed strong inherited effects on 2 of the 4 endophenotypes:AAO and *** next mapped with very high confidence the modifier locus for AAO at chromosome *** genotyping with additional markers refined th

关键词： Blindness genomics complex genetic disorder gene-gene interactions biostatistics

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*** dissection of myocilin(MYOC)-induced glaucoma reveals that the modifier of glaucoma 1(MOG1)locus encodes a gene which prevents ocular hypertension

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Annals of Eye Science 2019年第1期 199-199页

作者： Vincent Raymond Pascal Belleau rose arseneault Jean-Louis Anctil Gilles Côté Marcel Amyot Patrick Laplante Laurent Lamalice Stéphane Dubois Fahed Elian Michael A.Walter Québec Glaucoma Network CHUL at CHU de Québec-UniversitéLaval Québec CityQCCanada Molecular Medicine UniversitéLavalQuébec CityQCCanada Cold Spring Harbor Laboratory NYUSA Department of Ophthalmology UniversitéLavalQuébec CityQCCanada Department of Ophthalmology Universitéde MontréalMontréalQCCanada Medical Genetics University of AlbertaEdmontonABCanada Ophthalmologists from Province of Québec QuébecQCCanada

Background:Pathogenic mechanisms leading to open-angle glaucoma(OAG)are genetically *** involve neuroinflammation,elevation of intra-ocular pressures(IOP)and optic nerve hypersensitivity to cellular *** mapped a locus at chromosome 20q13 that contains a modifier gene for glaucoma *** searching for its identity,we named this gene modifier of glaucoma 1(MOG1).The goal of this study is to characterize the mechanism by which MOG1 delays the age of onset of glaucoma when OAG is caused by mutations in the MYOC *** hypothesized that MOG1 mechanism may be linked to a specific endophenotype and thus dissected ocular phenotypes present in a large French-Canadian MYOC glaucoma ***:We studied 375 members of the CA pedigree in which autosomal dominant OAG is caused by the MYOCK423E *** this family,wild-type MOG1(normal form)delays the age-at-onset(AAO)of *** records of MYOCK423E carriers were reviewed to extract the values of four quantitative traits portraying four endophenotypes:(I)age of maximal intra-ocular pressure(IOP max),(II)IOP progression,(III)rate of optic nerve degeneration and,(IV)AAO defined as the age at which IOP≥22 mmHg or age at which optic disk degeneration was first *** were tested for their heritability.A three-stage algorithm was designed to detect double mutants who carry the MYOCK423E mutation and putative MOG1 *** traits values of double-mutants were then ***:We found 156 individuals who were heterozygotes(HTZ)for *** hundred and twenty of these were classified affected as they were OAG or had treatment for ocular hypertension(OHT)with IOP≥22 *** other 36 HTZ were *** two endophenotypes,AAO and IOP max,showed significant *** was the 1st symptom detected in 99%of the affecteds;it always preceded optic nerve *** of the affecteds ranged from 7 to 63 years old while rates of optic nerve degenera

关键词： Blindness glaucoma genetics modifier myocilin

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