ID
45924
Description
Principal Investigator: Janey L. Wiggs, MD PhD, Massachusetts Eye and Ear, Harvard Medical School, Boston MA USA MeSH: Glaucoma,Exfoliation Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001053 The overall goal of our research is to elucidate the pathogenesis of exfoliation syndrome and the associated glaucoma, making it possible to implement effective screening and prevention strategies and to develop novel therapies. Cases genotyped for this project are from the Nurses Health Study (NHS), the Health Professionals Follow-up Study (HPFS), the Women's Genome Health Study (WGHS), the Massachusetts Eye and Ear Infirmary (MEEI), Mayo Clinic, the University of Iowa, the University of Miami and Duke University Medical Center. Exfoliation syndrome (XFS) is a common condition that is a major risk factor for high-tension open-angle glaucoma, pre-mature cataract formation, and increased risk of complications during cataract surgery. Previous studies suggest that exfoliation syndrome and the related glaucoma (XFG) are genetically complex, and one gene, LOXL1, has been identified as a major genetic risk factor. LOXL1 variants are found in up to 98% of affected patients; however, these same variants are also present in up to 80% of unaffected individuals, indicating that additional genetic and/or environmental factors are necessary for disease development. Samples genotyped for this study are a case set (1,096 samples) and 24 pedigrees (98 samples). Controls for association analyses are selected from the NEIGHBORHOOD study.
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Versions (1)
- 2/27/24 2/27/24 - Simon Heim
Copyright Holder
Janey L. Wiggs, MD PhD, Massachusetts Eye and Ear, Harvard Medical School, Boston MA USA
Uploaded on
February 27, 2024
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001053 NEI Exfoliation Genotyping Study
Subject ID, subject source, source subject ID, and consent group of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, and consent group of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Subject ID, family ID, father ID, mother ID, and superfamily variable of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Subject ID, sex, study site, affection status, and age at glaucoma diagnosis of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Sample ID, analyte type, body site, histological type, and tumor status of sample obtained from participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
Similar models
Subject ID, subject source, source subject ID, and consent group of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, and consent group of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Subject ID, family ID, father ID, mother ID, and superfamily variable of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Subject ID, sex, study site, affection status, and age at glaucoma diagnosis of participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
- Sample ID, analyte type, body site, histological type, and tumor status of sample obtained from participants with exfoliation syndrome and involved in the "National Eye Institute (NEI) Exfoliation Genotyping Study" project.
C0549184 (UMLS CUI [1,2])
C0009797 (UMLS CUI [1,3])
C0205257 (UMLS CUI [1,4])
C2700399 (UMLS CUI [1,5])
C0030761 (UMLS CUI [1,6])
C5418626 (UMLS CUI [2,1])
C0549184 (UMLS CUI [2,2])
C0009797 (UMLS CUI [2,3])
C0205257 (UMLS CUI [2,4])
C2700399 (UMLS CUI [2,5])
C0017431 (UMLS CUI [2,6])
C4553389 (UMLS CUI [2,7])
C0242481 (UMLS CUI [1,2])
C0027365 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])