A MULTI-CENTER STUDY TO MAP GENES FOR FUCHS DYSTROPHY
A MULTI-CENTER STUDY TO MAP GENES FOR FUCHS DYSTROPHY
批准号:
8171716
负责人:
SUDHA K IYENGAR
金额:
$0.99万
依托单位国家:
美国
项目类别:
财政年份:
2010
资助国家:
美国
项目状态:
已结题
起止时间:
2010-08-01 至 2011-07-31
关键词:
AffectAgeBiologyBlood specimenBullous KeratopathyCandidate Disease GeneCataract ExtractionChromosome MappingClinicalClinical DataComputer Retrieval of Information on Scientific Projects DatabaseCorneaCorneal EndotheliumCorneal dystrophyCounselingDNADataData CollectionDatabasesDescemet&aposs membraneDiseaseEdemaEpitheliumEsthesiaEtiologyEye diseasesFamilyFamily history ofForeign BodiesFuchs&apos Endothelial DystrophyFundingGap JunctionsGenesGeneticGenetic DeterminismGenetic MarkersGrantHeritabilityIndividualInheritedInstitutionKeratoplastyLeadMethodsMicroscopicModelingMolecularMolecular GeneticsOnline SystemsOphthalmologic Surgical ProceduresPainPhasePopulationPopulations at RiskResearchResearch PersonnelResourcesRiskRunningSamplingScanningSeveritiesSiblingsSiteSourceStagingTherapeutic InterventionThickUnited States National Institutes of HealthVisionbasecase controlgenetic analysisgenetic linkage analysisgenome-widegenome-wide linkageindexinginsightinstrumentnovelpressureprobandprogramssextrait
中文摘要
这个子项目是众多研究子项目之一
英文摘要
This subproject is one of many research subprojects utilizing the
resources provided by a Center grant funded by NIH/NCRR. The subproject and
investigator (PI) may have received primary funding from another NIH source,
and thus could be represented in other CRISP entries. The institution listed is
for the Center, which is not necessarily the institution for the investigator.
Fuchs endothelial corneal dystrophy (FECD: MIM136800) is a common eye disease, affecting approximately 1% of the general US population. Initially asymptomatic, individuals eventually present with decreased vision, foreign body sensation and pain upon waking. Slit lamp (microscopic) examination initially shows focal thickenings of Descemet's membrane known as corneal guttae, with subsequent stromal edema, epithelia edema and, in advanced stages, painful bullous keratopathy. FECD is the most common inherited disease in the USA leading to corneal transplantation. In addition individuals undergoing cataract surgery with FECD are at significant risk for corneal decompensation, requiring subsequent corneal transplantation. Molecular data on the genetic basis of corneal dystrophies is limited. With a significant population at risk, the identification of genes that may contribute to the dystrophy would provide very useful information for counseling, implementation of standard methods for therapeutic intervention, and ultimately gene modulation and/or therapy. In this study, we have used the network built by the active, multi-center NEI-funded Cornea Donor Study as the nexus to identify families with FECD, as well as unrelated FECD cases and controls, using the consortium model. We have completed the family recruitment phase of the project and are currently finishing up case-control recruitment. Family history, clinical and other demographic information is being collected using a standardized instrument. Histopathologic confirmation of severely affected index cases has been obtained. Blood samples are being collected for molecular genetic analyses. A Web-based database developed specifically for this project facilitates multi-site data collection. We found FECD to be strongly heritable in our family sample, whether defined as a binary trait or as a severity score. Central corneal thickness, adjusted for confounding factors including age, sex, ocular pressure and previous eye surgery, is also highly heritable. An initial association study on previously identified FECD candidate genes, run on a limited number of families, suggests that the major genetic determinants explaining the observed heritability are novel. We are preparing to conduct a genomewide linkage scan on the family sample, comprising 322 families containing at least 572 sibling pairs, including 333 affected sibling pairs. Model-free linkage analysis, using the SIBPAL program in S.A.G.E., will be conducted on genetic marker data derived from DNA samples in conjunction with the clinical data on FECD. In addition, we will perform a genomewide association analysis including approximately 500 unrelated cases (including probands of families) and 500 controls. We are nearing completion of the recruitment phase for unrelated cases and controls. We anticipate that this studythe first FECD study to include a large number of families with severe disease and unrelated individualswill lead to novel insights into the etiology of FECD and the biology of the corneal endothelium.
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Genetic causes of developmental speech sound disorder in families
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批准号:8721919
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项目类别:
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资助金额:$64.74万
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财政年份:2012
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负责人:SUDHA K IYENGAR
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依托单位:
Genetic causes of developmental speech sound disorder in families
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批准号:8446613
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项目类别:
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资助金额:$64.95万
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财政年份:2012
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负责人:SUDHA K IYENGAR
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依托单位:
Genetic causes of developmental speech sound disorder in families
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批准号:8554297
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项目类别:
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资助金额:$61.7万
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财政年份:2012
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负责人:SUDHA K IYENGAR
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依托单位:
FAMILY INVESTIGATION OF NEPHROPATHY AND DIABETES (FIND)
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批准号:8171719
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项目类别:
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资助金额:$0.99万
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财政年份:2010
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负责人:SUDHA K IYENGAR
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依托单位:
EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING
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批准号:8171717
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项目类别:
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资助金额:$0.99万
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财政年份:2010
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负责人:SUDHA K IYENGAR
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依托单位:
A MULTI-CENTER STUDY TO MAP GENES FOR FUCH'S DYSTROPHY
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批准号:7956481
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项目类别:
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资助金额:$0.97万
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财政年份:2009
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负责人:SUDHA K IYENGAR
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依托单位:
FAMILY INVESTIGATION OF NEPHROPATHY AND DIABETES (FIND)
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批准号:7956486
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项目类别:
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资助金额:$0.97万
-
财政年份:2009
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负责人:SUDHA K IYENGAR
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依托单位:
EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING
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批准号:7956482
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项目类别:
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资助金额:$0.97万
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财政年份:2009
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负责人:SUDHA K IYENGAR
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依托单位:
THE GENETIC BASIS OF COMPLEX TRAITS
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批准号:7723454
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项目类别:
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资助金额:$0.45万
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财政年份:2008
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负责人:SUDHA K IYENGAR
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依托单位:
A MULTI-CENTER STUDY TO MAP GENES FOR FUCH'S DYSTROPHY
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批准号:7723442
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项目类别:
-
资助金额:$0.91万
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财政年份:2008
-
负责人:SUDHA K IYENGAR
-
依托单位:
EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING
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批准号:7723443
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项目类别:
-
资助金额:$0.91万
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财政年份:2008
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负责人:SUDHA K IYENGAR
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依托单位:
FAMILY INVESTIGATION OF NEPHROPATHY AND DIABETES (FIND)
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批准号:7723452
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项目类别:
-
资助金额:$0.91万
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财政年份:2008
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负责人:SUDHA K IYENGAR
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依托单位:
GENETIC PREDISPOSITION TO DRUSEN FORMATION
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批准号:7723446
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项目类别:
-
资助金额:$0.91万
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财政年份:2008
-
负责人:SUDHA K IYENGAR
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依托单位:
GENETIC PREDISPOSITION TO DRUSEN FORMATION
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批准号:7600988
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项目类别:
-
资助金额:$0.51万
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财政年份:2007
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负责人:SUDHA K IYENGAR
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依托单位:
Diet and Lifestyle Factors Reducing Risk for Age-Related Eye Disease
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批准号:8204647
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项目类别:
-
资助金额:$59.21万
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财政年份:2007
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负责人:SUDHA K IYENGAR
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依托单位:
Diet and Lifestyle Factors Reducing Risk for Age-Related Eye Disease
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批准号:8531537
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项目类别:
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资助金额:$15.89万
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财政年份:2007
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负责人:SUDHA K IYENGAR
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依托单位:
Diet and Lifestyle Factors Reducing Risk for Age-Related Eye Disease
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批准号:8041782
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项目类别:
-
资助金额:$75.41万
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财政年份:2007
-
负责人:SUDHA K IYENGAR
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依托单位:
Diet and Lifestyle Factors Reducing Risk for Age-Related Eye Disease
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批准号:8386611
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项目类别:
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资助金额:$24.78万
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财政年份:2007
-
负责人:SUDHA K IYENGAR
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依托单位:
A MULTI-CENTER STUDY TO MAP GENES FOR FUCH'S DYSTROPHY
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批准号:7600984
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项目类别:
-
资助金额:$0.51万
-
财政年份:2007
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负责人:SUDHA K IYENGAR
-
依托单位:
EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING
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批准号:7600985
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项目类别:
-
资助金额:$0.51万
-
财政年份:2007
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负责人:SUDHA K IYENGAR
-
依托单位:
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