ID

45663

Description

Principal Investigator: Joan O'Brien, MD, Scheie Eye Institute, University of Pennsylvania, PA, USA MeSH: Glaucoma, Open-Angle https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001312 The purpose of the POAAGG study is to investigate the genetic architecture of primary open-angle glaucoma (POAG) in African Americans. This population is up to eight times more likely to develop glaucoma than non-Hispanic whites, yet no large-scale genetics studies have specifically addressed this ethnic group. The POAAGG study aims to enroll 7765 patients, consisting of a discovery cohort of 5500 subjects (2000 cases and 3500 controls) and a validation cohort of 2265 subjects (1000 cases and 1265 controls). The study population consists of self-identified blacks (African Americans, African descent, or African Caribbean), 35 years or older, identified from the Philadelphia region. Subjects are recruited from the Scheie Eye Institute and its research sites in Philadelphia, PA, as well as from the Penn Medicine Biobank. Fellowship-trained glaucoma specialists classify each subject as a case, control, or glaucoma suspect based on specified criteria. As of 02/01/2017, a total of 8187 subjects have been recruited to the POAAGG study, including 2522 cases, 4545 controls, and 1120 suspects. A comprehensive genetic analysis of POAG, including a genome-wide association analysis, is currently underway. The GWAS was conducted on the Illumina Infinium Multi Ethnic Genotyping Array (MEGA), which contained custom content tailored to POAG and African Americans. A comprehensive genetic analysis of quantitative traits associated with POAG is also in progress. Over 90% of cases have full phenotypic information, including intraocular pressure, cup-to-disc ratio, central corneal thickness, retinal nerve fiber layer thickness, visual acuity, and visual fields.

Link

dbGaP-study=phs001312

Keywords

Versions (1)
  1. 3/29/23 3/29/23 - Chiara Middel
Copyright Holder

Joan O'Brien, MD, Scheie Eye Institute, University of Pennsylvania, PA, USA

Uploaded on

March 29, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001312 Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Inclusion criteria for POAAGG subjects includes age over 35 years and self-identification as Black (African-American, African descent, or African Caribbean). Exclusion criteria include a history of narrow angle, closed angle, neovascular, mixed mechanism, or pseudoexfoliation glaucoma; history of glaucoma secondary to eye surgery or secondary to severe ocular trauma; history of iritis, uveitis, or iridocyclitis; presence of Grave's disease with ocular manifestations, vascular occlusion causing neovascularization of the iris, optic nerve atrophy from other diagnoses, or advanced proliferative diabetic retinopathy.
Description

Elig.phs001312.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0001779
UMLS CUI [1,3]
C0036588
UMLS CUI [1,4]
C0020792
UMLS CUI [1,5]
C0085756
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0262926
UMLS CUI [2,3]
C0154947
UMLS CUI [2,4]
C0017605
UMLS CUI [2,5]
C0017609
UMLS CUI [2,6]
C0686361
UMLS CUI [2,7]
C4022815
UMLS CUI [2,8]
C0017601
UMLS CUI [2,9]
C0149893
UMLS CUI [2,10]
C0038901
UMLS CUI [2,11]
C0339594
UMLS CUI [2,12]
C0022081
UMLS CUI [2,13]
C0042164
UMLS CUI [2,14]
C0022073
UMLS CUI [2,15]
C0018213
UMLS CUI [2,16]
C0015411
UMLS CUI [2,17]
C0264995
UMLS CUI [2,18]
C0271110
UMLS CUI [2,19]
C0029124
UMLS CUI [2,20]
C0154830
UMLS CUI [2,21]
C0205179
POAG cases were defined as having an open iridocorneal angle and: (1) characteristic glaucomatous optic nerve findings in one or both eyes consisting of at least one of the following: notching, neuroretinal rim thinning, excavation, or a nerve fiber layer defect; (2) characteristic visual field defects on two consecutive reliable visual field tests in at least one eye, which were consistent with the observed optic nerve defects in that eye, as determined by fellowship-trained glaucoma specialists; and (3) all secondary causes of glaucoma excluded. Normal controls were defined as subjects older than 35, without: (1) high myopia (greater than -8.00 diopters); (2) high presbyopia (+8.00 diopters); (3) abnormal visual field; (4) IOP greater than 21 mmHg; (5) neuroretinal rim thinning, excavation, notching or nerve fiber layer defects; (6) optic nerves asymmetry; or (7) a cup-to-disc ratio difference between eyes greater than 0.2.
Description

Elig.phs001312.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0017612
UMLS CUI [1,2]
C1698493
UMLS CUI [1,3]
C1704788
UMLS CUI [2,1]
C0175566
UMLS CUI [2,2]
C0229238
UMLS CUI [2,3]
C0599878
UMLS CUI [2,4]
C0161398
UMLS CUI [2,5]
C3494921
UMLS CUI [2,6]
C5232580
UMLS CUI [2,7]
C5209222
UMLS CUI [2,8]
C3846158
UMLS CUI [3,1]
C3887875
UMLS CUI [3,2]
C0205448
UMLS CUI [3,3]
C1707491
UMLS CUI [3,4]
C0854021
UMLS CUI [3,5]
C0332290
UMLS CUI [3,6]
C0161398
UMLS CUI [4,1]
C0680251
UMLS CUI [4,2]
C0149893
UMLS CUI [5,1]
C2705716
UMLS CUI [5,2]
C0001779
UMLS CUI [5,3]
C1298908
UMLS CUI [5,4]
C0271183
UMLS CUI [5,5]
C0205082
UMLS CUI [5,6]
C0033075
UMLS CUI [5,7]
C0854021
UMLS CUI [5,8]
C0028840
UMLS CUI [5,9]
C3494921
UMLS CUI [5,10]
C5209222
UMLS CUI [5,11]
C5232580
UMLS CUI [5,12]
C3846158
UMLS CUI [5,13]
C0029130
UMLS CUI [5,14]
C0332514
UMLS CUI [5,15]
C0423471
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001312.v1.p1.1
Item
Inclusion criteria for POAAGG subjects includes age over 35 years and self-identification as Black (African-American, African descent, or African Caribbean). Exclusion criteria include a history of narrow angle, closed angle, neovascular, mixed mechanism, or pseudoexfoliation glaucoma; history of glaucoma secondary to eye surgery or secondary to severe ocular trauma; history of iritis, uveitis, or iridocyclitis; presence of Grave's disease with ocular manifestations, vascular occlusion causing neovascularization of the iris, optic nerve atrophy from other diagnoses, or advanced proliferative diabetic retinopathy.
boolean
C1512693 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C0036588 (UMLS CUI [1,3])
C0020792 (UMLS CUI [1,4])
C0085756 (UMLS CUI [1,5])
C0680251 (UMLS CUI [2,1])
C0262926 (UMLS CUI [2,2])
C0154947 (UMLS CUI [2,3])
C0017605 (UMLS CUI [2,4])
C0017609 (UMLS CUI [2,5])
C0686361 (UMLS CUI [2,6])
C4022815 (UMLS CUI [2,7])
C0017601 (UMLS CUI [2,8])
C0149893 (UMLS CUI [2,9])
C0038901 (UMLS CUI [2,10])
C0339594 (UMLS CUI [2,11])
C0022081 (UMLS CUI [2,12])
C0042164 (UMLS CUI [2,13])
C0022073 (UMLS CUI [2,14])
C0018213 (UMLS CUI [2,15])
C0015411 (UMLS CUI [2,16])
C0264995 (UMLS CUI [2,17])
C0271110 (UMLS CUI [2,18])
C0029124 (UMLS CUI [2,19])
C0154830 (UMLS CUI [2,20])
C0205179 (UMLS CUI [2,21])
Elig.phs001312.v1.p1.2
Item
POAG cases were defined as having an open iridocorneal angle and: (1) characteristic glaucomatous optic nerve findings in one or both eyes consisting of at least one of the following: notching, neuroretinal rim thinning, excavation, or a nerve fiber layer defect; (2) characteristic visual field defects on two consecutive reliable visual field tests in at least one eye, which were consistent with the observed optic nerve defects in that eye, as determined by fellowship-trained glaucoma specialists; and (3) all secondary causes of glaucoma excluded. Normal controls were defined as subjects older than 35, without: (1) high myopia (greater than -8.00 diopters); (2) high presbyopia (+8.00 diopters); (3) abnormal visual field; (4) IOP greater than 21 mmHg; (5) neuroretinal rim thinning, excavation, notching or nerve fiber layer defects; (6) optic nerves asymmetry; or (7) a cup-to-disc ratio difference between eyes greater than 0.2.
boolean
C0017612 (UMLS CUI [1,1])
C1698493 (UMLS CUI [1,2])
C1704788 (UMLS CUI [1,3])
C0175566 (UMLS CUI [2,1])
C0229238 (UMLS CUI [2,2])
C0599878 (UMLS CUI [2,3])
C0161398 (UMLS CUI [2,4])
C3494921 (UMLS CUI [2,5])
C5232580 (UMLS CUI [2,6])
C5209222 (UMLS CUI [2,7])
C3846158 (UMLS CUI [2,8])
C3887875 (UMLS CUI [3,1])
C0205448 (UMLS CUI [3,2])
C1707491 (UMLS CUI [3,3])
C0854021 (UMLS CUI [3,4])
C0332290 (UMLS CUI [3,5])
C0161398 (UMLS CUI [3,6])
C0680251 (UMLS CUI [4,1])
C0149893 (UMLS CUI [4,2])
C2705716 (UMLS CUI [5,1])
C0001779 (UMLS CUI [5,2])
C1298908 (UMLS CUI [5,3])
C0271183 (UMLS CUI [5,4])
C0205082 (UMLS CUI [5,5])
C0033075 (UMLS CUI [5,6])
C0854021 (UMLS CUI [5,7])
C0028840 (UMLS CUI [5,8])
C3494921 (UMLS CUI [5,9])
C5209222 (UMLS CUI [5,10])
C5232580 (UMLS CUI [5,11])
C3846158 (UMLS CUI [5,12])
C0029130 (UMLS CUI [5,13])
C0332514 (UMLS CUI [5,14])
C0423471 (UMLS CUI [5,15])
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