ID

45154

Descrizione

Principal Investigator: Louis R. Pasquale, MD, Harvard Medical School, Boston, MA, USA MeSH: Glaucoma, Open-Angle,Low Tension Glaucoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000308 *Background Information:* Primary open-angle glaucoma (POAG) is an age-related, intraocular pressure (IOP)-dependent progressive optic neuropathy that ultimately leads to irreversible blindness. Vision loss from POAG is a condition of public health significance. Current evidence suggests that POAG is a polygenetic disease modified by environmental influences. Despite the fact that a positive family history of disease is an important risk factor for POAG, conventional linkage and candidate gene approaches have revealed less than 5% of the genetic component of the disease. Furthermore, there is no consensus on environment risk factors for POAG. Elevated IOP is the only modifiable risk factor for POAG; yet, lowering IOP slows, but does not halt the disease process. *Study Objectives:* The overall goal of our research is to elucidate the pathogenesis of POAG so that cost-effective disease detection and primary prevention strategies can be implemented. The primary aim of the *Glau*coma *G*ene *En*vironment Initiative (GLAUGEN), funded by the Human Genome Research Institute (NHGRI), is to discover genetic loci associated with POAG. The secondary aim of GLAUGEN, funded by NHGRI and the National Eye Institute, is to discover gene environment interactions in POAG. *Methods and study populations:* For this study, we have assembled cases and controls from three studies: the Nurses' Health Study (*NHS*), the Health Professionals Follow-up Study (*HPFS*) and the Genetic Etiologies of POAG (*GEP*) project based at Massachusetts Eye and Ear Infirmary (MEEI). This case-control group includes 1057 unrelated cases and 1272 controls. Members of the NHS and HPFS also have repeated environmental exposure data collected prior to a diagnosis of POAG. NHS - The Nurses Health Study started in 1976 under the direction of Dr. Frank E. Speizer. With funding from the NIH, registered nurses from 11 US states were invited to complete a detailed questionnaire regarding lifestyle and health biennially. Initially, 121,000 women responded to the baseline questionnaire. Currently, Dr. Susan Hankinson serves as the program director for the NHS. HPFS - The Health Professionals Follow-up Study began in 1986 under the direction of Drs. Walter Willett and Meir Stampfer. Under the auspices of the NIH, they enlisted 51,529 male health professionals from throughout the US to complete similarly designed biennial questionnaires. Beginning in 1990, questions regarding ocular health were added to biennial questionaires completed by health professionals participating in the NHS and HPFS. This allowed us to formulate (PI: S. Hankinson; NEI) and maintain (PI: L. Pasquale; NEI) a cohort at risk for POAG derived from the respective general cohorts who were under ophthalmic care. We then developed a definition of POAG that allowed us to identify cases from a population that was geographically dispersed. The centerpiece of this definition is the presence of reproducible visual field loss consistent with nerve fiber layer (NFL) dropout (the NFL contains the axons that comprise the optic nerve) on reliable tests. Reproducible visual field loss occurred in the context of anterior segment findings that did not suggest a secondary cause of elevated IOP and posterior segment findings that did not suggest a secondary cause of visual field loss. We selected controls from the cohort at risk for POAG on the basis of age, gender and time period when cases were identified. GEP - The Genetic Etiologies of POAG was initiated in 1996 with funding from the National Eye Institute under the direction of Dr. Janey Wiggs. The purpose of this work was to discover novel genetic loci associated with POAG. In the GEP, cases were derived predominantly from the Glaucoma Service at MEEI. The majority of cases had an examination by a glaucoma specialist and met the definition for POAG used in NHS and HPFS. Cases with only one reliable visual field consistent with NFL dropout were included if there was a cup-disc ratio of 0.7 or more. The majority of controls were patients who presented to the MEEI comprehensive ophthalmology service for routine eye examination or from spouses of MEEI patients with secondary forms of glaucoma. Other controls were identified from regional glaucoma screenings held throughout Massachusetts. Members of GEP have detailed ocular phenotype data but limited information on environmental exposures. This study is part of the Gene Environment Association Studies initiative (GENEVA, http://www.genevastudy.org) funded by the trans-NIH Genes, Environment, and Health Initiative (GEI). The overarching goal is to identify novel genetic factors that contribute to primary open-angle glaucoma through large-scale genome-wide association studies of three well-characterized cohorts of cases and controls, some in matched pairs. Genotyping was performed at the Broad Institute of MIT and Harvard, a GENEVA genotyping center. Data cleaning and harmonization were performed at the GEI-funded GENEVA Coordinating Center at the University of Washington.

collegamento

dbGaP study = phs000308

Keywords

versioni (2)
  1. 09/09/22 09/09/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titolare del copyright

Louis R. Pasquale, MD, Harvard Medical School, Boston, MA, USA

Caricato su

12 ottobre 2022

DOI

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Licenza

Creative Commons BY 4.0
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dbGaP phs000308 The Glaucoma Genes and Environment (GLAUGEN) Study

Inglese

Eligibility Criteria

5 moduli  
Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

*Case inclusion criteria:*
Descrizione

Elig.phs000308.v1.p1.1

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
Age ≥ 40 years old.
Descrizione

Elig.phs000308.v1.p1.2

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0001779
European-derived Caucasian or Hispanic Caucasian.
Descrizione

Elig.phs000308.v1.p1.3

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0221786
UMLS CUI [1,2]
C0019576
Slit lamp exam findings did not reveal secondary causes for elevated intraocular pressure (IOP). Specifically cases showed no signs of exfoliation syndrome, pigment dispersion syndrome, uveitis or trauma on slit lamp examination when the diagnosis of POAG was made. Subsequent discovery of these signs after a diagnosis of POAG was made does not exclude a subject.
Descrizione

Elig.phs000308.v1.p1.4

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0419360
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C0234708
UMLS CUI [1,4]
C0175668
UMLS CUI [1,5]
C0206368
UMLS CUI [1,6]
C1271398
UMLS CUI [1,7]
C0042164
UMLS CUI [1,8]
C3714660
UMLS CUI [2,1]
C1298908
UMLS CUI [2,2]
C0680251
UMLS CUI [2,3]
C0011900
UMLS CUI [2,4]
C0332282
UMLS CUI [2,5]
C0011900
UMLS CUI [2,6]
C0234708
For cases, the filtration apparatus was open to the filtering portion of the trabecular meshwork for at least 180 degrees. Alternatively, there was evidence that the pupils were pharmacologically dilated without an elevation of IOP.
Descrizione

Elig.phs000308.v1.p1.5

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0681850
UMLS CUI [1,2]
C0016107
UMLS CUI [1,3]
C1947951
UMLS CUI [1,4]
C0175566
UMLS CUI [1,5]
C2070141
UMLS CUI [1,6]
C2070126
UMLS CUI [2,1]
C3887511
UMLS CUI [2,2]
C0205464
UMLS CUI [2,3]
C0026961
UMLS CUI [2,4]
C0332288
UMLS CUI [2,5]
C0234708
There was visual field (VF) loss (on reliable VFs) consistent with nerve fiber layer loss. A reliable and abnormal VF consistent with glaucoma was defined according tothe following considerations: <ol type="a">
Descrizione

Elig.phs000308.v1.p1.6

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3887875
UMLS CUI [1,2]
C0332290
UMLS CUI [1,3]
C1517945
UMLS CUI [1,4]
C1720466
UMLS CUI [2,1]
C3858758
UMLS CUI [2,2]
C0205161
UMLS CUI [2,3]
C0042826
UMLS CUI [2,4]
C0332290
UMLS CUI [2,5]
C0017601
UMLS CUI [2,6]
C1704788
A reliable visual field was defined by fixation loss &#8804; 33%, false positive rate &#8804; 20% and false negative rate &#8804; 20%.
Descrizione

Elig.phs000308.v1.p1.7

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1704788
UMLS CUI [1,2]
C3858758
UMLS CUI [1,3]
C0042826
For automated perimetry there was no requirement for the type of perimeter used except that the perimeter must have an age-matched controlled database that allows for the equivalent of a total deviation and pattern deviation plot. Thus Dicon and Octopus perimetry data were acceptable.
Descrizione

Elig.phs000308.v1.p1.8

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C3697854
UMLS CUI [1,3]
C0182215
UMLS CUI [1,4]
C0332300
UMLS CUI [1,5]
C0009932
UMLS CUI [1,6]
C0242356
Goldmann visual fields (GVFs) were acceptable unless the perimetrist regarded the test as unreliable.
Descrizione

Elig.phs000308.v1.p1.9

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C2070119
UMLS CUI [1,2]
C1879533
UMLS CUI [2,1]
C0332300
UMLS CUI [2,2]
C0750591
UMLS CUI [2,3]
C0456984
UMLS CUI [2,4]
C0749770
The VF defect must be regarded as consistent with nerve fiber layer loss (loss not consistent with choroidal-retinal pathology, chiasmal disease or post-chiasmal lesions).
Descrizione

Elig.phs000308.v1.p1.10

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3887875
UMLS CUI [1,2]
C0332290
UMLS CUI [1,3]
C1720466
UMLS CUI [1,4]
C1517945
The VFs were graded in a standardized manner using the pattern deviation plot.
Descrizione

Elig.phs000308.v1.p1.11

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0042826
UMLS CUI [1,2]
C1273712
UMLS CUI [1,3]
C1720055
For automated VFs, the pattern deviation plot or its equivalent was stratified into superior and inferior paracentral, nasal step, Bjerrum area and temporal wedge regions. A cluster of 3 or more point that were -5dB reduced from normal constitute the minimal change consistent with nerve fiber layer pathology. In the superior Bjerrum area, the superior-most points were disregarded because they could be influenced by the lid position. Each VF was graded on a Glaucoma VF Review Sheet.
Descrizione

Elig.phs000308.v1.p1.12

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0205554
UMLS CUI [1,2]
C0042826
UMLS CUI [1,3]
C1514983
UMLS CUI [1,4]
C1720055
UMLS CUI [1,5]
C0271197
UMLS CUI [1,6]
C4699227
UMLS CUI [1,7]
C0271200
UMLS CUI [1,8]
C0230007
UMLS CUI [2,1]
C1704332
UMLS CUI [2,2]
C0392756
UMLS CUI [2,3]
C0205451
UMLS CUI [2,4]
C0439497
UMLS CUI [2,5]
C0332290
UMLS CUI [2,6]
C1720466
UMLS CUI [2,7]
C0030664
UMLS CUI [3,1]
C0430869
UMLS CUI [3,2]
C0332196
UMLS CUI [3,3]
C1282910
UMLS CUI [3,4]
C0205146
UMLS CUI [3,5]
C4054723
UMLS CUI [3,6]
C0015426
UMLS CUI [4,1]
C0042826
UMLS CUI [4,2]
C0441800
UMLS CUI [4,3]
C0017601
The VF loss was not explained by choroidal-retinal disease mimicking nerve fiber layer loss (such as retinitis pigmentosa) or other optic nerve disease (such as optic nerve drusen or ischemic optic neuropathy).
Descrizione

Elig.phs000308.v1.p1.13

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C3887875
UMLS CUI [1,3]
C0008521
UMLS CUI [1,4]
C0035309
UMLS CUI [1,5]
C0205394
UMLS CUI [1,6]
C0029132
For GVFs, the investigator stratified the field into similar regions to assess whether the VF contained defects consistent with NFL loss.
Descrizione

Elig.phs000308.v1.p1.14

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1514983
UMLS CUI [1,2]
C3887875
UMLS CUI [1,3]
C0332290
UMLS CUI [1,4]
C1720466
UMLS CUI [1,5]
C1517945
If the patient had other reasons to have VF loss, such as a cerebrovascular accident (CVA), then only the segment of the pattern deviation plot that was not affected by the CVA was used to determine whether the participant met criterion for a case.
Descrizione

Elig.phs000308.v1.p1.15

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3887875
UMLS CUI [1,2]
C0392360
UMLS CUI [1,3]
C0007820
UMLS CUI [1,4]
C0220825
UMLS CUI [1,5]
C0205146
UMLS CUI [1,6]
C1720055
UMLS CUI [1,7]
C4489377
UMLS CUI [1,8]
C0678226
UMLS CUI [1,9]
C0007820
The VF loss was reproduced on a subsequent reliable VF in the same region. For example, if the 1st VF shows a superior nasal step, then the subsequent VF must also showed a superior nasal step. In the GEP, in lieu of a subsequent VF, the cup to dic ratio (CDR) could be used for confirmation if the CDR was greater than or equal to 0.7 in the eye showing loss. When multiple VFs were available and the latest available VF did not show minimal criteria for a NFL defect then the patient was excluded as a POAG case.
Descrizione

Elig.phs000308.v1.p1.16

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3887875
UMLS CUI [1,2]
C2367557
UMLS CUI [2,1]
C1298908
UMLS CUI [2,2]
C2367557
UMLS CUI [2,3]
C0423471
UMLS CUI [2,4]
C0521091
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C2367557
UMLS CUI [3,3]
C1298908
UMLS CUI [3,4]
C3887875
Cases in GEP all had less than 8 diopters of myopia. There was no refractive error inclusion/exclusion criterion for cases in NHS and HPFS.
Descrizione

Elig.phs000308.v1.p1.17

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0439092
UMLS CUI [1,3]
C0205454
UMLS CUI [1,4]
C0439484
UMLS CUI [1,5]
C0027092
UMLS CUI [2,1]
C1298908
UMLS CUI [2,2]
C1512693
UMLS CUI [2,3]
C0680251
UMLS CUI [2,4]
C0034951
*Control inclusion criteria:*
Descrizione

Elig.phs000308.v1.p1.18

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
Age &#8805; 40 years old.
Descrizione

Elig.phs000308.v1.p1.19

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0001779
European-derived Caucasian or Hispanic Caucasian.
Descrizione

Elig.phs000308.v1.p1.20

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0221786
UMLS CUI [1,2]
C0019576
UMLS CUI [1,3]
C0043157
Because the study also aimed for the discovery of gene environment interactions in POAG, controls from NHS and HPFS (where extensive environmental exposure data was available) were allowed to have a family history of glaucoma in 1st degree relatives (parent, sibling or child) or 2nd degree relatives (aunts, uncles, and cousins). Controls from GEP with a family history of glaucoma in 1st degree relatives were excluded, but they could have a 2nd degree relative with glaucoma.
Descrizione

Elig.phs000308.v1.p1.21

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C0470187
UMLS CUI [1,3]
C0014412
UMLS CUI [1,4]
C1511726
UMLS CUI [1,5]
C1517194
UMLS CUI [1,6]
C1519210
UMLS CUI [1,7]
C0522476
UMLS CUI [1,8]
C0017601
UMLS CUI [1,9]
C1512693
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1298908
UMLS CUI [2,3]
C0470187
UMLS CUI [2,4]
C0014412
UMLS CUI [2,5]
C1511726
UMLS CUI [2,6]
C1517194
UMLS CUI [2,7]
C1519210
UMLS CUI [2,8]
C0522476
UMLS CUI [2,9]
C0017601
UMLS CUI [2,10]
C0680251
There were no specific criteria for exclusion based on refractive status for participants in the NHS and HPFS. In the GEP, participants with more than 8 diopters of myopia were excluded.
Descrizione

Elig.phs000308.v1.p1.22

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C0470187
UMLS CUI [1,4]
C0014412
UMLS CUI [1,5]
C1511726
UMLS CUI [1,6]
C0205172
UMLS CUI [1,7]
C0205454
UMLS CUI [1,8]
C0439484
UMLS CUI [1,9]
C0027092
For controls in GEP, it was required that slit lamp exam findings did not reveal a secondary cause for elevated intraocular pressure. Specifically, there were no signs of exfoliation syndrome, pigment dispersion syndrome, uveitis or ocular trauma on slit lamp examination. Controls in NHS and HPFS did not report a diagnosis of glaucoma or IOP &gt; 25 mm Hg in either eye in the biennial questionnaires (but there is a remote possibility that some participants had slit lamp signs of pigment dispersion syndrome, exfoliation syndrome, uveitis or prior ocular trauma as these were not assessed in the biennial questionnaires).
Descrizione

Elig.phs000308.v1.p1.23

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C1298908
UMLS CUI [1,4]
C5394538
UMLS CUI [1,5]
C0175668
UMLS CUI [1,6]
C0206368
UMLS CUI [1,7]
C1271398
UMLS CUI [1,8]
C0042164
UMLS CUI [1,9]
C3714660
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0009932
UMLS CUI [2,3]
C0034394
UMLS CUI [2,4]
C1298908
UMLS CUI [2,5]
C2700446
UMLS CUI [2,6]
C5394538
For controls in GEP, slit lamp exam showed &gt; 0.25 for the corneal thickness anterior chamber depth at the peripheral cornea with the van Herick technique. Subjects with shallower anterior chamber depth with the van Herick technique had gonioscopy showing the filtration apparatus to be open to the filtering portion of the trabecular meshwork for at least 180 degrees. For controls in NHS and HPFS, there was no exclusion criterion on the basis of anterior chamber depth.
Descrizione

Elig.phs000308.v1.p1.24

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0429492
UMLS CUI [1,4]
C4698035
UMLS CUI [1,5]
C0018071
UMLS CUI [1,6]
C0016107
UMLS CUI [1,7]
C1947951
UMLS CUI [1,8]
C0175566
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1298908
UMLS CUI [2,3]
C0680251
UMLS CUI [2,4]
C0429492
For controls in GEP, participants with IOP &gt; 21 mm Hg in either eye by applanation tonometry were excluded. In NHS and HPFS, only controls who denied a report that they were aware of an IOP &gt; 25 mm Hg in either eye were included; otherwise, there was no exclusion criterion on the basis of IOP.
Descrizione

Elig.phs000308.v1.p1.25

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C0680251
UMLS CUI [1,3]
C0234708
UMLS CUI [1,4]
C0430862
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1512693
UMLS CUI [2,3]
C1298908
UMLS CUI [2,4]
C2700446
UMLS CUI [2,5]
C0234708
For controls in GEP, the CDR was less than 0.7 in both eyes and the CDR asymmetry was less than 0.2 on fundus examination of the optic nerve. In NHS and HPFS, there was no inclusion/exclusion criterion on the basis of optic nerve appearance.
Descrizione

Elig.phs000308.v1.p1.26

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C0423471
UMLS CUI [1,3]
C0205216
UMLS CUI [1,4]
C0332514
UMLS CUI [1,5]
C1444586
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1298908
UMLS CUI [2,3]
C1512693
UMLS CUI [2,4]
C0680251
UMLS CUI [2,5]
C0029130
UMLS CUI [2,6]
C0700364
*Exclusions in cases and controls:*
Descrizione

Elig.phs000308.v1.p1.27

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
People of Asian or African decent were excluded.
Descrizione

Elig.phs000308.v1.p1.28

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0027567
UMLS CUI [1,2]
C0003988
People under the age of 40 years old were excluded.
Descrizione

Elig.phs000308.v1.p1.29

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0001779
Potential cases in whom the most recent available VF is reliable and normal in both eyes were excluded; these were ineligible regardless of prior VF findings and regardless of the disc appearance.
Descrizione

Elig.phs000308.v1.p1.30

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0332185
UMLS CUI [1,2]
C0042826
UMLS CUI [1,3]
C0205307
Patients with significant retinal vascular disease (such as retinal venous occlusive disease or proliferative diabetic retinopathy treated with pan-retinal photocoagulation) that could produce VF defects were excluded.
Descrizione

Elig.phs000308.v1.p1.31

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0750502
UMLS CUI [1,3]
C0154833
UMLS CUI [1,4]
C3887875
Note #1. There were no exclusions for IOP among POAG cases because POAG occurs across the entire spectrum of IOP (A World Glaucoma Society consensus statement, ARVO 2007). Cases of "normal tension glaucoma" will be analyzed together with "high tension" open-angle glaucoma as there is no epidemiologic evidence that clearly separates these two populations.
Descrizione

Elig.phs000308.v1.p1.32

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3842396
UMLS CUI [1,2]
C0152136
UMLS CUI [1,3]
C0017612
Note #2. There is a wide spectrum of CDRs associated glaucomatous optic neuropathy owing to the variation in disc size and shape that exists in the population. Thus, there were no *a priori* disc structural criteria for POAG if there were no supporting VF data.
Descrizione

Elig.phs000308.v1.p1.33

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0029127
UMLS CUI [1,2]
C0243161
UMLS CUI [1,3]
C0332288
UMLS CUI [1,4]
C0042826
UMLS CUI [1,5]
C1511726
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Similar models

Eligibility Criteria

5 moduli
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000308.v1.p1.1
Item
*Case inclusion criteria:*
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000308.v1.p1.2
Item
Age &#8805; 40 years old.
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000308.v1.p1.3
Item
European-derived Caucasian or Hispanic Caucasian.
boolean
C0221786 (UMLS CUI [1,1])
C0019576 (UMLS CUI [1,2])
Elig.phs000308.v1.p1.4
Item
Slit lamp exam findings did not reveal secondary causes for elevated intraocular pressure (IOP). Specifically cases showed no signs of exfoliation syndrome, pigment dispersion syndrome, uveitis or trauma on slit lamp examination when the diagnosis of POAG was made. Subsequent discovery of these signs after a diagnosis of POAG was made does not exclude a subject.
boolean
C0419360 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C0234708 (UMLS CUI [1,3])
C0175668 (UMLS CUI [1,4])
C0206368 (UMLS CUI [1,5])
C1271398 (UMLS CUI [1,6])
C0042164 (UMLS CUI [1,7])
C3714660 (UMLS CUI [1,8])
C1298908 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C0011900 (UMLS CUI [2,3])
C0332282 (UMLS CUI [2,4])
C0011900 (UMLS CUI [2,5])
C0234708 (UMLS CUI [2,6])
Elig.phs000308.v1.p1.5
Item
For cases, the filtration apparatus was open to the filtering portion of the trabecular meshwork for at least 180 degrees. Alternatively, there was evidence that the pupils were pharmacologically dilated without an elevation of IOP.
boolean
C0681850 (UMLS CUI [1,1])
C0016107 (UMLS CUI [1,2])
C1947951 (UMLS CUI [1,3])
C0175566 (UMLS CUI [1,4])
C2070141 (UMLS CUI [1,5])
C2070126 (UMLS CUI [1,6])
C3887511 (UMLS CUI [2,1])
C0205464 (UMLS CUI [2,2])
C0026961 (UMLS CUI [2,3])
C0332288 (UMLS CUI [2,4])
C0234708 (UMLS CUI [2,5])
Elig.phs000308.v1.p1.6
Item
There was visual field (VF) loss (on reliable VFs) consistent with nerve fiber layer loss. A reliable and abnormal VF consistent with glaucoma was defined according tothe following considerations: <ol type="a">
boolean
C3887875 (UMLS CUI [1,1])
C0332290 (UMLS CUI [1,2])
C1517945 (UMLS CUI [1,3])
C1720466 (UMLS CUI [1,4])
C3858758 (UMLS CUI [2,1])
C0205161 (UMLS CUI [2,2])
C0042826 (UMLS CUI [2,3])
C0332290 (UMLS CUI [2,4])
C0017601 (UMLS CUI [2,5])
C1704788 (UMLS CUI [2,6])
Elig.phs000308.v1.p1.7
Item
A reliable visual field was defined by fixation loss &#8804; 33%, false positive rate &#8804; 20% and false negative rate &#8804; 20%.
boolean
C1704788 (UMLS CUI [1,1])
C3858758 (UMLS CUI [1,2])
C0042826 (UMLS CUI [1,3])
Elig.phs000308.v1.p1.8
Item
For automated perimetry there was no requirement for the type of perimeter used except that the perimeter must have an age-matched controlled database that allows for the equivalent of a total deviation and pattern deviation plot. Thus Dicon and Octopus perimetry data were acceptable.
boolean
C1298908 (UMLS CUI [1,1])
C3697854 (UMLS CUI [1,2])
C0182215 (UMLS CUI [1,3])
C0332300 (UMLS CUI [1,4])
C0009932 (UMLS CUI [1,5])
C0242356 (UMLS CUI [1,6])
Elig.phs000308.v1.p1.9
Item
Goldmann visual fields (GVFs) were acceptable unless the perimetrist regarded the test as unreliable.
boolean
C2070119 (UMLS CUI [1,1])
C1879533 (UMLS CUI [1,2])
C0332300 (UMLS CUI [2,1])
C0750591 (UMLS CUI [2,2])
C0456984 (UMLS CUI [2,3])
C0749770 (UMLS CUI [2,4])
Elig.phs000308.v1.p1.10
Item
The VF defect must be regarded as consistent with nerve fiber layer loss (loss not consistent with choroidal-retinal pathology, chiasmal disease or post-chiasmal lesions).
boolean
C3887875 (UMLS CUI [1,1])
C0332290 (UMLS CUI [1,2])
C1720466 (UMLS CUI [1,3])
C1517945 (UMLS CUI [1,4])
Elig.phs000308.v1.p1.11
Item
The VFs were graded in a standardized manner using the pattern deviation plot.
boolean
C0042826 (UMLS CUI [1,1])
C1273712 (UMLS CUI [1,2])
C1720055 (UMLS CUI [1,3])
Elig.phs000308.v1.p1.12
Item
For automated VFs, the pattern deviation plot or its equivalent was stratified into superior and inferior paracentral, nasal step, Bjerrum area and temporal wedge regions. A cluster of 3 or more point that were -5dB reduced from normal constitute the minimal change consistent with nerve fiber layer pathology. In the superior Bjerrum area, the superior-most points were disregarded because they could be influenced by the lid position. Each VF was graded on a Glaucoma VF Review Sheet.
boolean
C0205554 (UMLS CUI [1,1])
C0042826 (UMLS CUI [1,2])
C1514983 (UMLS CUI [1,3])
C1720055 (UMLS CUI [1,4])
C0271197 (UMLS CUI [1,5])
C4699227 (UMLS CUI [1,6])
C0271200 (UMLS CUI [1,7])
C0230007 (UMLS CUI [1,8])
C1704332 (UMLS CUI [2,1])
C0392756 (UMLS CUI [2,2])
C0205451 (UMLS CUI [2,3])
C0439497 (UMLS CUI [2,4])
C0332290 (UMLS CUI [2,5])
C1720466 (UMLS CUI [2,6])
C0030664 (UMLS CUI [2,7])
C0430869 (UMLS CUI [3,1])
C0332196 (UMLS CUI [3,2])
C1282910 (UMLS CUI [3,3])
C0205146 (UMLS CUI [3,4])
C4054723 (UMLS CUI [3,5])
C0015426 (UMLS CUI [3,6])
C0042826 (UMLS CUI [4,1])
C0441800 (UMLS CUI [4,2])
C0017601 (UMLS CUI [4,3])
Elig.phs000308.v1.p1.13
Item
The VF loss was not explained by choroidal-retinal disease mimicking nerve fiber layer loss (such as retinitis pigmentosa) or other optic nerve disease (such as optic nerve drusen or ischemic optic neuropathy).
boolean
C0680251 (UMLS CUI [1,1])
C3887875 (UMLS CUI [1,2])
C0008521 (UMLS CUI [1,3])
C0035309 (UMLS CUI [1,4])
C0205394 (UMLS CUI [1,5])
C0029132 (UMLS CUI [1,6])
Elig.phs000308.v1.p1.14
Item
For GVFs, the investigator stratified the field into similar regions to assess whether the VF contained defects consistent with NFL loss.
boolean
C1514983 (UMLS CUI [1,1])
C3887875 (UMLS CUI [1,2])
C0332290 (UMLS CUI [1,3])
C1720466 (UMLS CUI [1,4])
C1517945 (UMLS CUI [1,5])
Elig.phs000308.v1.p1.15
Item
If the patient had other reasons to have VF loss, such as a cerebrovascular accident (CVA), then only the segment of the pattern deviation plot that was not affected by the CVA was used to determine whether the participant met criterion for a case.
boolean
C3887875 (UMLS CUI [1,1])
C0392360 (UMLS CUI [1,2])
C0007820 (UMLS CUI [1,3])
C0220825 (UMLS CUI [1,4])
C0205146 (UMLS CUI [1,5])
C1720055 (UMLS CUI [1,6])
C4489377 (UMLS CUI [1,7])
C0678226 (UMLS CUI [1,8])
C0007820 (UMLS CUI [1,9])
Elig.phs000308.v1.p1.16
Item
The VF loss was reproduced on a subsequent reliable VF in the same region. For example, if the 1st VF shows a superior nasal step, then the subsequent VF must also showed a superior nasal step. In the GEP, in lieu of a subsequent VF, the cup to dic ratio (CDR) could be used for confirmation if the CDR was greater than or equal to 0.7 in the eye showing loss. When multiple VFs were available and the latest available VF did not show minimal criteria for a NFL defect then the patient was excluded as a POAG case.
boolean
C3887875 (UMLS CUI [1,1])
C2367557 (UMLS CUI [1,2])
C1298908 (UMLS CUI [2,1])
C2367557 (UMLS CUI [2,2])
C0423471 (UMLS CUI [2,3])
C0521091 (UMLS CUI [2,4])
C0680251 (UMLS CUI [3,1])
C2367557 (UMLS CUI [3,2])
C1298908 (UMLS CUI [3,3])
C3887875 (UMLS CUI [3,4])
Elig.phs000308.v1.p1.17
Item
Cases in GEP all had less than 8 diopters of myopia. There was no refractive error inclusion/exclusion criterion for cases in NHS and HPFS.
boolean
C1512693 (UMLS CUI [1,1])
C0439092 (UMLS CUI [1,2])
C0205454 (UMLS CUI [1,3])
C0439484 (UMLS CUI [1,4])
C0027092 (UMLS CUI [1,5])
C1298908 (UMLS CUI [2,1])
C1512693 (UMLS CUI [2,2])
C0680251 (UMLS CUI [2,3])
C0034951 (UMLS CUI [2,4])
Elig.phs000308.v1.p1.18
Item
*Control inclusion criteria:*
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
Elig.phs000308.v1.p1.19
Item
Age &#8805; 40 years old.
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000308.v1.p1.20
Item
European-derived Caucasian or Hispanic Caucasian.
boolean
C0221786 (UMLS CUI [1,1])
C0019576 (UMLS CUI [1,2])
C0043157 (UMLS CUI [1,3])
Elig.phs000308.v1.p1.21
Item
Because the study also aimed for the discovery of gene environment interactions in POAG, controls from NHS and HPFS (where extensive environmental exposure data was available) were allowed to have a family history of glaucoma in 1st degree relatives (parent, sibling or child) or 2nd degree relatives (aunts, uncles, and cousins). Controls from GEP with a family history of glaucoma in 1st degree relatives were excluded, but they could have a 2nd degree relative with glaucoma.
boolean
C0009932 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])
C0014412 (UMLS CUI [1,3])
C1511726 (UMLS CUI [1,4])
C1517194 (UMLS CUI [1,5])
C1519210 (UMLS CUI [1,6])
C0522476 (UMLS CUI [1,7])
C0017601 (UMLS CUI [1,8])
C1512693 (UMLS CUI [1,9])
C0009932 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C0470187 (UMLS CUI [2,3])
C0014412 (UMLS CUI [2,4])
C1511726 (UMLS CUI [2,5])
C1517194 (UMLS CUI [2,6])
C1519210 (UMLS CUI [2,7])
C0522476 (UMLS CUI [2,8])
C0017601 (UMLS CUI [2,9])
C0680251 (UMLS CUI [2,10])
Elig.phs000308.v1.p1.22
Item
There were no specific criteria for exclusion based on refractive status for participants in the NHS and HPFS. In the GEP, participants with more than 8 diopters of myopia were excluded.
boolean
C0680251 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])
C0014412 (UMLS CUI [1,4])
C1511726 (UMLS CUI [1,5])
C0205172 (UMLS CUI [1,6])
C0205454 (UMLS CUI [1,7])
C0439484 (UMLS CUI [1,8])
C0027092 (UMLS CUI [1,9])
Elig.phs000308.v1.p1.23
Item
For controls in GEP, it was required that slit lamp exam findings did not reveal a secondary cause for elevated intraocular pressure. Specifically, there were no signs of exfoliation syndrome, pigment dispersion syndrome, uveitis or ocular trauma on slit lamp examination. Controls in NHS and HPFS did not report a diagnosis of glaucoma or IOP &gt; 25 mm Hg in either eye in the biennial questionnaires (but there is a remote possibility that some participants had slit lamp signs of pigment dispersion syndrome, exfoliation syndrome, uveitis or prior ocular trauma as these were not assessed in the biennial questionnaires).
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
C5394538 (UMLS CUI [1,4])
C0175668 (UMLS CUI [1,5])
C0206368 (UMLS CUI [1,6])
C1271398 (UMLS CUI [1,7])
C0042164 (UMLS CUI [1,8])
C3714660 (UMLS CUI [1,9])
C1512693 (UMLS CUI [2,1])
C0009932 (UMLS CUI [2,2])
C0034394 (UMLS CUI [2,3])
C1298908 (UMLS CUI [2,4])
C2700446 (UMLS CUI [2,5])
C5394538 (UMLS CUI [2,6])
Elig.phs000308.v1.p1.24
Item
For controls in GEP, slit lamp exam showed &gt; 0.25 for the corneal thickness anterior chamber depth at the peripheral cornea with the van Herick technique. Subjects with shallower anterior chamber depth with the van Herick technique had gonioscopy showing the filtration apparatus to be open to the filtering portion of the trabecular meshwork for at least 180 degrees. For controls in NHS and HPFS, there was no exclusion criterion on the basis of anterior chamber depth.
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0429492 (UMLS CUI [1,3])
C4698035 (UMLS CUI [1,4])
C0018071 (UMLS CUI [1,5])
C0016107 (UMLS CUI [1,6])
C1947951 (UMLS CUI [1,7])
C0175566 (UMLS CUI [1,8])
C0009932 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C0680251 (UMLS CUI [2,3])
C0429492 (UMLS CUI [2,4])
Elig.phs000308.v1.p1.25
Item
For controls in GEP, participants with IOP &gt; 21 mm Hg in either eye by applanation tonometry were excluded. In NHS and HPFS, only controls who denied a report that they were aware of an IOP &gt; 25 mm Hg in either eye were included; otherwise, there was no exclusion criterion on the basis of IOP.
boolean
C0009932 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0234708 (UMLS CUI [1,3])
C0430862 (UMLS CUI [1,4])
C0009932 (UMLS CUI [2,1])
C1512693 (UMLS CUI [2,2])
C1298908 (UMLS CUI [2,3])
C2700446 (UMLS CUI [2,4])
C0234708 (UMLS CUI [2,5])
Elig.phs000308.v1.p1.26
Item
For controls in GEP, the CDR was less than 0.7 in both eyes and the CDR asymmetry was less than 0.2 on fundus examination of the optic nerve. In NHS and HPFS, there was no inclusion/exclusion criterion on the basis of optic nerve appearance.
boolean
C0009932 (UMLS CUI [1,1])
C0423471 (UMLS CUI [1,2])
C0205216 (UMLS CUI [1,3])
C0332514 (UMLS CUI [1,4])
C1444586 (UMLS CUI [1,5])
C0009932 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C1512693 (UMLS CUI [2,3])
C0680251 (UMLS CUI [2,4])
C0029130 (UMLS CUI [2,5])
C0700364 (UMLS CUI [2,6])
Elig.phs000308.v1.p1.27
Item
*Exclusions in cases and controls:*
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000308.v1.p1.28
Item
People of Asian or African decent were excluded.
boolean
C0027567 (UMLS CUI [1,1])
C0003988 (UMLS CUI [1,2])
Elig.phs000308.v1.p1.29
Item
People under the age of 40 years old were excluded.
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000308.v1.p1.30
Item
Potential cases in whom the most recent available VF is reliable and normal in both eyes were excluded; these were ineligible regardless of prior VF findings and regardless of the disc appearance.
boolean
C0332185 (UMLS CUI [1,1])
C0042826 (UMLS CUI [1,2])
C0205307 (UMLS CUI [1,3])
Elig.phs000308.v1.p1.31
Item
Patients with significant retinal vascular disease (such as retinal venous occlusive disease or proliferative diabetic retinopathy treated with pan-retinal photocoagulation) that could produce VF defects were excluded.
boolean
C0680251 (UMLS CUI [1,1])
C0750502 (UMLS CUI [1,2])
C0154833 (UMLS CUI [1,3])
C3887875 (UMLS CUI [1,4])
Elig.phs000308.v1.p1.32
Item
Note #1. There were no exclusions for IOP among POAG cases because POAG occurs across the entire spectrum of IOP (A World Glaucoma Society consensus statement, ARVO 2007). Cases of "normal tension glaucoma" will be analyzed together with "high tension" open-angle glaucoma as there is no epidemiologic evidence that clearly separates these two populations.
boolean
C3842396 (UMLS CUI [1,1])
C0152136 (UMLS CUI [1,2])
C0017612 (UMLS CUI [1,3])
Elig.phs000308.v1.p1.33
Item
Note #2. There is a wide spectrum of CDRs associated glaucomatous optic neuropathy owing to the variation in disc size and shape that exists in the population. Thus, there were no *a priori* disc structural criteria for POAG if there were no supporting VF data.
boolean
C0029127 (UMLS CUI [1,1])
C0243161 (UMLS CUI [1,2])
C0332288 (UMLS CUI [1,3])
C0042826 (UMLS CUI [1,4])
C1511726 (UMLS CUI [1,5])
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