ID

45317

Description

Principal Investigator: Shannath Merbs, MD, PhD, The Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD, USA MeSH: Glaucoma, Open-Angle https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000458 This is a case-control study of Primary Open Angle Glaucoma (POAG). POAG is a progressive optic neuropathy that eventually leads to blindness. More than 30 million people worldwide have Primary Open Angle Glaucoma (POAG), of which greater than 3 million are blind. Gene expression changes in the retina have been observed for POAG. Several recent studies, including the NEIGHBOR consortium (*NEI G*laucoma *H*uman genetic collaboration) have used GWAS to identify correlative regions of the genome. Despite this, the genetic basis of Glaucoma is not well understood. Epigenetic variation may account for low heritability and environmental effects on human disease. Despite the significant advances being made in understanding the role of epigenetics in gene regulation in other fields, little is known about the relationship between DNA methylation patterns, retinal gene expression, and retinal disease. *The goal of this study is to identify differentially methylated regions in the peripheral blood of patients with POAG.* The case identification is as per the NEIGHBOR description: Cases and controls were recruited from ophthalmology clinics and were examined by ophthalmologists. For cases the clinical exam included intraocular pressure measurements, optic nerve assessment and visual field evaluation. Controls had no family history of glaucoma, normal intraocular pressure and normal optic nerves. POAG and control samples come from two sources: Duke University and Massachusetts Eye and Ear Infirmary (MEEI). These samples were collected and genotyped as part of the NEIGHBOR study. From the 219 POAG cases contributed to NEIGHBOR by Duke, 75 samples were selected for exome sequencing by Dr. Terry Gaasterland (UCSD) as part of an ARRA grant. These samples were selected to mirror the distribution of the entire set of Duke patients for variables such as age, cup-to-disc ratio, CCT, and IOP. From these 75 patients, 43 were selected for our study and an additional seven patients chosen at random, for a total 50 patients from Duke. From the 219 Duke controls, 50 were selected to match the age (at the time of blood draw) and sex of the 50 Duke POAG patients. From the NEIGHBOR control samples from MEEI, 27 were selected who best matched the age (at blood draw), time since sample collection and sex of the POAG probands from GLAUGEN. Additional individual-level phenotype and genotype data may be obtained through the authorized access portal of phs000238 (Neighbor - Glaucoma GWAS Study).

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000458

Keywords

Versions (2)
  1. 10/26/22 10/26/22 - Simon Heim
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Shannath Merbs, MD, PhD, The Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD, USA

Uploaded on

October 26, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000458 NEIGHBOR-Methylation in POAG

English

Eligibility Criteria

4 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Unrelated individuals were selected as cases or controls for this study. All subjects consented to sharing their samples. Both cases and controls were examined by a trained ophthalmologist. All cases and controls were at least 35 years old and all were Caucasian.
Description

Unrelated individuals were selected as cases or controls for this study. All subjects consented to sharing their samples. Both cases and controls were examined by a trained ophthalmologist. All cases and controls were at least 35 years old and all were Caucasian.

Data type

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C0021430
UMLS CUI [1,3]
C0200345
UMLS CUI [1,4]
C0583576
UMLS CUI [1,5]
C0001779
UMLS CUI [1,6]
C0043157
UMLS CUI [2,1]
C1706256
UMLS CUI [2,2]
C0021430
UMLS CUI [2,3]
C0200345
UMLS CUI [2,4]
C0583576
UMLS CUI [2,5]
C0001779
UMLS CUI [2,6]
C0043157
Cases had either reproducible visual field loss in at least one eye in a nerve fiber layer distribution on two independent reliable visual fields, or a vertical cup to disc ratio (CDR) of at least 0.8 in the one eye. For automated visual fields, a reliable visual field was defined by fixation loss ≤ 33%, false positive rate ≤ 20% and false negative rate ≤ 20%. Intraocular pressure was noted for all cases, but was not part of the case definition. Exclusion criteria for cases included: myopia of −8D or greater, clinical findings suggestive of secondary glaucomas (pigment dispersion, exfoliation and anterior segment dysgenesis) and narrow filtration angles.
Description

Cases had either reproducible visual field loss in at least one eye in a nerve fiber layer distribution on two independent reliable visual fields, or a vertical cup to disc ratio (CDR) of at least 0.8 in the one eye. For automated visual fields, a reliable visual field was defined by fixation loss ≤ 33%, false positive rate ≤ 20% and false negative rate ≤ 20%. Intraocular pressure was noted for all cases, but was not part of the case definition. Exclusion criteria for cases included: myopia of −8D or greater, clinical findings suggestive of secondary glaucomas (pigment dispersion, exfoliation and anterior segment dysgenesis) and narrow filtration angles.

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C3887875
UMLS CUI [1,3]
C1720466
UMLS CUI [1,4]
C3809505
UMLS CUI [1,5]
C4732785
UMLS CUI [1,6]
C4747726
UMLS CUI [1,7]
C0205557
UMLS CUI [1,8]
C0205558
UMLS CUI [1,9]
C0578862
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0027092
UMLS CUI [2,3]
C0332299
UMLS CUI [2,4]
C0149893
UMLS CUI [2,5]
C4285879
UMLS CUI [2,6]
C4699250
UMLS CUI [2,7]
C5205887
UMLS CUI [2,8]
C0578862
Controls did not have a family history of glaucoma, had intraocular pressures less than 21 mmHg, had vertical cup to disc ratios of less than 0.7 and CDR asymmetry of less than 0.2. Controls also did not have any evidence of secondary glaucomas or narrow filtration angles.
Description

Controls did not have a family history of glaucoma, had intraocular pressures less than 21 mmHg, had vertical cup to disc ratios of less than 0.7 and CDR asymmetry of less than 0.2. Controls also did not have any evidence of secondary glaucomas or narrow filtration angles.

Data type

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C0455343
UMLS CUI [1,3]
C0578863
UMLS CUI [1,4]
C1299676
UMLS CUI [1,5]
C0423471
UMLS CUI [1,6]
C0332514
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C0332125
UMLS CUI [2,3]
C0149893
UMLS CUI [2,4]
C1410927
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Similar models

Eligibility Criteria

4 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Unrelated individuals were selected as cases or controls for this study. All subjects consented to sharing their samples. Both cases and controls were examined by a trained ophthalmologist. All cases and controls were at least 35 years old and all were Caucasian.
Item
Unrelated individuals were selected as cases or controls for this study. All subjects consented to sharing their samples. Both cases and controls were examined by a trained ophthalmologist. All cases and controls were at least 35 years old and all were Caucasian.
boolean
C0009932 (UMLS CUI [1,1])
C0021430 (UMLS CUI [1,2])
C0200345 (UMLS CUI [1,3])
C0583576 (UMLS CUI [1,4])
C0001779 (UMLS CUI [1,5])
C0043157 (UMLS CUI [1,6])
C1706256 (UMLS CUI [2,1])
C0021430 (UMLS CUI [2,2])
C0200345 (UMLS CUI [2,3])
C0583576 (UMLS CUI [2,4])
C0001779 (UMLS CUI [2,5])
C0043157 (UMLS CUI [2,6])
Cases had either reproducible visual field loss in at least one eye in a nerve fiber layer distribution on two independent reliable visual fields, or a vertical cup to disc ratio (CDR) of at least 0.8 in the one eye. For automated visual fields, a reliable visual field was defined by fixation loss ≤ 33%, false positive rate ≤ 20% and false negative rate ≤ 20%. Intraocular pressure was noted for all cases, but was not part of the case definition. Exclusion criteria for cases included: myopia of −8D or greater, clinical findings suggestive of secondary glaucomas (pigment dispersion, exfoliation and anterior segment dysgenesis) and narrow filtration angles.
Item
Cases had either reproducible visual field loss in at least one eye in a nerve fiber layer distribution on two independent reliable visual fields, or a vertical cup to disc ratio (CDR) of at least 0.8 in the one eye. For automated visual fields, a reliable visual field was defined by fixation loss ≤ 33%, false positive rate ≤ 20% and false negative rate ≤ 20%. Intraocular pressure was noted for all cases, but was not part of the case definition. Exclusion criteria for cases included: myopia of −8D or greater, clinical findings suggestive of secondary glaucomas (pigment dispersion, exfoliation and anterior segment dysgenesis) and narrow filtration angles.
boolean
C1706256 (UMLS CUI [1,1])
C3887875 (UMLS CUI [1,2])
C1720466 (UMLS CUI [1,3])
C3809505 (UMLS CUI [1,4])
C4732785 (UMLS CUI [1,5])
C4747726 (UMLS CUI [1,6])
C0205557 (UMLS CUI [1,7])
C0205558 (UMLS CUI [1,8])
C0578862 (UMLS CUI [1,9])
C0680251 (UMLS CUI [2,1])
C0027092 (UMLS CUI [2,2])
C0332299 (UMLS CUI [2,3])
C0149893 (UMLS CUI [2,4])
C4285879 (UMLS CUI [2,5])
C4699250 (UMLS CUI [2,6])
C5205887 (UMLS CUI [2,7])
C0578862 (UMLS CUI [2,8])
Controls did not have a family history of glaucoma, had intraocular pressures less than 21 mmHg, had vertical cup to disc ratios of less than 0.7 and CDR asymmetry of less than 0.2. Controls also did not have any evidence of secondary glaucomas or narrow filtration angles.
Item
Controls did not have a family history of glaucoma, had intraocular pressures less than 21 mmHg, had vertical cup to disc ratios of less than 0.7 and CDR asymmetry of less than 0.2. Controls also did not have any evidence of secondary glaucomas or narrow filtration angles.
boolean
C0009932 (UMLS CUI [1,1])
C0455343 (UMLS CUI [1,2])
C0578863 (UMLS CUI [1,3])
C1299676 (UMLS CUI [1,4])
C0423471 (UMLS CUI [1,5])
C0332514 (UMLS CUI [1,6])
C0009932 (UMLS CUI [2,1])
C0332125 (UMLS CUI [2,2])
C0149893 (UMLS CUI [2,3])
C1410927 (UMLS CUI [2,4])
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