ID

45924

Descripción

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.

Link

dbGaP study = phs001053

Palabras clave

Versiones (1)
  1. 27-02-24 27-02-24 - Simon Heim
Titular de derechos de autor

Janey L. Wiggs, MD PhD, Massachusetts Eye and Ear, Harvard Medical School, Boston MA USA

Subido en

27 februari 2024

DOI

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Licencia

Creative Commons BY 4.0
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dbGaP phs001053 NEI Exfoliation Genotyping Study

Inglés

Eligibility Criteria

6 formularios  
Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Case definition:* For participants from all sites, XFS cases have clinical documentation of characteristic fibrillary material, either on the lens, pupillary ruff, anterior vitreous face, or anterior segment angle during slit biomicroscopic exam or through medical record review. Angle closure glaucoma will not be an exclusion criterion, as there is a higher risk of angle closure in patients with XFS. Our primary outcome of interest will be XFS; XFG will be considered an outcome of interest in secondary analyses. XFG will be defined by clinical evidence of both exfoliation material and glaucoma. Glaucoma status is the same definition we have used for the GLAUGEN, NEIGHBOR and NEIGHBORHOOD studies defined as: Level 1 (most likely affected with vCDR >0.7 in at least one eye, visual field defects consistent with the optic nerve examination and characteristic for glaucoma in at least one eye, and IOP >22mmHg in at least one eye); Level 2 (likely affected with 2 of three criteria listed above); Level 3 (possibly affected with one of the three criteria above) and Level 0 (no evidence of glaucoma using the criteria above). The vast majority of cases and controls are Caucasian, reflecting the populations used for this study and the fact that the disease is rarely observed in individuals of African race. Non-Caucasians identified by analysis of population substructure be analyzed separately.
Descripción

*Case definition:* For participants from all sites, XFS cases have clinical documentation of characteristic fibrillary material, either on the lens, pupillary ruff, anterior vitreous face, or anterior segment angle during slit biomicroscopic exam or through medical record review. Angle closure glaucoma will not be an exclusion criterion, as there is a higher risk of angle closure in patients with XFS. Our primary outcome of interest will be XFS; XFG will be considered an outcome of interest in secondary analyses. XFG will be defined by clinical evidence of both exfoliation material and glaucoma. Glaucoma status is the same definition we have used for the GLAUGEN, NEIGHBOR and NEIGHBORHOOD studies defined as: Level 1 (most likely affected with vCDR >0.7 in at least one eye, visual field defects consistent with the optic nerve examination and characteristic for glaucoma in at least one eye, and IOP >22mmHg in at least one eye); Level 2 (likely affected with 2 of three criteria listed above); Level 3 (possibly affected with one of the three criteria above) and Level 0 (no evidence of glaucoma using the criteria above). The vast majority of cases and controls are Caucasian, reflecting the populations used for this study and the fact that the disease is rarely observed in individuals of African race. Non-Caucasians identified by analysis of population substructure be analyzed separately.

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0085973
UMLS CUI [1,2]
C1704788
UMLS CUI [1,3]
C0206368
UMLS CUI [1,4]
C1518451
UMLS CUI [1,5]
C0599878
UMLS CUI [1,6]
C0023317
UMLS CUI [1,7]
C0034121
UMLS CUI [1,8]
C0392911
UMLS CUI [1,9]
C0348014
UMLS CUI [1,10]
C0419360
UMLS CUI [1,11]
C0730229
UMLS CUI [2,1]
C3274646
UMLS CUI [2,2]
C0680251
UMLS CUI [2,3]
C3843761
UMLS CUI [2,4]
C0017605
UMLS CUI [2,5]
C0206368
UMLS CUI [3,1]
C3274433
UMLS CUI [3,2]
C0206368
UMLS CUI [3,3]
C0683944
UMLS CUI [3,4]
C5554846
UMLS CUI [3,5]
C1302869
UMLS CUI [3,6]
C0017601
UMLS CUI [3,7]
C1704788
UMLS CUI [3,8]
C3846158
UMLS CUI [4,1]
C0456947
UMLS CUI [4,2]
C0392760
UMLS CUI [4,3]
C3846158
UMLS CUI [4,4]
C0449788
UMLS CUI [4,5]
C0015392
UMLS CUI [4,6]
C3887875
UMLS CUI [4,7]
C2228469
UMLS CUI [4,8]
C0017601
UMLS CUI [4,9]
C0234708
UMLS CUI [5,1]
C0456948
UMLS CUI [5,2]
C0392760
UMLS CUI [5,3]
C0449788
UMLS CUI [6,1]
C0456949
UMLS CUI [6,2]
C0392760
UMLS CUI [6,3]
C0449788
UMLS CUI [6,4]
C0243161
UMLS CUI [7,1]
C5570826
UMLS CUI [7,2]
C0332125
UMLS CUI [7,3]
C0243161
UMLS CUI [8,1]
C0007457
UMLS CUI [8,2]
C0558058
UMLS CUI [8,3]
C1257890
UMLS CUI [8,4]
C0522498
UMLS CUI [8,5]
C0027567
UMLS CUI [8,6]
C0443299
UMLS CUI [8,7]
C0936012
*Exclusion criteria:* There are no exclusion criteria for exfoliation status. For glaucoma status, patients will be scored as unknown for glaucoma if they have any evidence of any other form of glaucoma, including pigmentary glaucoma or anterior segment dysgenesis. Individuals who have received chronic steroid therapy are also excluded from the analyses.
Descripción

*Exclusion criteria:* There are no exclusion criteria for exfoliation status. For glaucoma status, patients will be scored as unknown for glaucoma if they have any evidence of any other form of glaucoma, including pigmentary glaucoma or anterior segment dysgenesis. Individuals who have received chronic steroid therapy are also excluded from the analyses.

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C0680251
UMLS CUI [1,3]
C0206368
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0017601
UMLS CUI [2,3]
C0449820
UMLS CUI [2,4]
C0439673
UMLS CUI [2,5]
C1552551
UMLS CUI [2,6]
C3887511
UMLS CUI [2,7]
C2881005
UMLS CUI [2,8]
C1862839
UMLS CUI [3,1]
C0087111
UMLS CUI [3,2]
C0205191
UMLS CUI [3,3]
C0149783
UMLS CUI [3,4]
C2828389
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Similar models

Eligibility Criteria

6 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
*Case definition:* For participants from all sites, XFS cases have clinical documentation of characteristic fibrillary material, either on the lens, pupillary ruff, anterior vitreous face, or anterior segment angle during slit biomicroscopic exam or through medical record review. Angle closure glaucoma will not be an exclusion criterion, as there is a higher risk of angle closure in patients with XFS. Our primary outcome of interest will be XFS; XFG will be considered an outcome of interest in secondary analyses. XFG will be defined by clinical evidence of both exfoliation material and glaucoma. Glaucoma status is the same definition we have used for the GLAUGEN, NEIGHBOR and NEIGHBORHOOD studies defined as: Level 1 (most likely affected with vCDR >0.7 in at least one eye, visual field defects consistent with the optic nerve examination and characteristic for glaucoma in at least one eye, and IOP >22mmHg in at least one eye); Level 2 (likely affected with 2 of three criteria listed above); Level 3 (possibly affected with one of the three criteria above) and Level 0 (no evidence of glaucoma using the criteria above). The vast majority of cases and controls are Caucasian, reflecting the populations used for this study and the fact that the disease is rarely observed in individuals of African race. Non-Caucasians identified by analysis of population substructure be analyzed separately.
Item
*Case definition:* For participants from all sites, XFS cases have clinical documentation of characteristic fibrillary material, either on the lens, pupillary ruff, anterior vitreous face, or anterior segment angle during slit biomicroscopic exam or through medical record review. Angle closure glaucoma will not be an exclusion criterion, as there is a higher risk of angle closure in patients with XFS. Our primary outcome of interest will be XFS; XFG will be considered an outcome of interest in secondary analyses. XFG will be defined by clinical evidence of both exfoliation material and glaucoma. Glaucoma status is the same definition we have used for the GLAUGEN, NEIGHBOR and NEIGHBORHOOD studies defined as: Level 1 (most likely affected with vCDR >0.7 in at least one eye, visual field defects consistent with the optic nerve examination and characteristic for glaucoma in at least one eye, and IOP >22mmHg in at least one eye); Level 2 (likely affected with 2 of three criteria listed above); Level 3 (possibly affected with one of the three criteria above) and Level 0 (no evidence of glaucoma using the criteria above). The vast majority of cases and controls are Caucasian, reflecting the populations used for this study and the fact that the disease is rarely observed in individuals of African race. Non-Caucasians identified by analysis of population substructure be analyzed separately.
boolean
C0085973 (UMLS CUI [1,1])
C1704788 (UMLS CUI [1,2])
C0206368 (UMLS CUI [1,3])
C1518451 (UMLS CUI [1,4])
C0599878 (UMLS CUI [1,5])
C0023317 (UMLS CUI [1,6])
C0034121 (UMLS CUI [1,7])
C0392911 (UMLS CUI [1,8])
C0348014 (UMLS CUI [1,9])
C0419360 (UMLS CUI [1,10])
C0730229 (UMLS CUI [1,11])
C3274646 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C3843761 (UMLS CUI [2,3])
C0017605 (UMLS CUI [2,4])
C0206368 (UMLS CUI [2,5])
C3274433 (UMLS CUI [3,1])
C0206368 (UMLS CUI [3,2])
C0683944 (UMLS CUI [3,3])
C5554846 (UMLS CUI [3,4])
C1302869 (UMLS CUI [3,5])
C0017601 (UMLS CUI [3,6])
C1704788 (UMLS CUI [3,7])
C3846158 (UMLS CUI [3,8])
C0456947 (UMLS CUI [4,1])
C0392760 (UMLS CUI [4,2])
C3846158 (UMLS CUI [4,3])
C0449788 (UMLS CUI [4,4])
C0015392 (UMLS CUI [4,5])
C3887875 (UMLS CUI [4,6])
C2228469 (UMLS CUI [4,7])
C0017601 (UMLS CUI [4,8])
C0234708 (UMLS CUI [4,9])
C0456948 (UMLS CUI [5,1])
C0392760 (UMLS CUI [5,2])
C0449788 (UMLS CUI [5,3])
C0456949 (UMLS CUI [6,1])
C0392760 (UMLS CUI [6,2])
C0449788 (UMLS CUI [6,3])
C0243161 (UMLS CUI [6,4])
C5570826 (UMLS CUI [7,1])
C0332125 (UMLS CUI [7,2])
C0243161 (UMLS CUI [7,3])
C0007457 (UMLS CUI [8,1])
C0558058 (UMLS CUI [8,2])
C1257890 (UMLS CUI [8,3])
C0522498 (UMLS CUI [8,4])
C0027567 (UMLS CUI [8,5])
C0443299 (UMLS CUI [8,6])
C0936012 (UMLS CUI [8,7])
*Exclusion criteria:* There are no exclusion criteria for exfoliation status. For glaucoma status, patients will be scored as unknown for glaucoma if they have any evidence of any other form of glaucoma, including pigmentary glaucoma or anterior segment dysgenesis. Individuals who have received chronic steroid therapy are also excluded from the analyses.
Item
*Exclusion criteria:* There are no exclusion criteria for exfoliation status. For glaucoma status, patients will be scored as unknown for glaucoma if they have any evidence of any other form of glaucoma, including pigmentary glaucoma or anterior segment dysgenesis. Individuals who have received chronic steroid therapy are also excluded from the analyses.
boolean
C1298908 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0206368 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0017601 (UMLS CUI [2,2])
C0449820 (UMLS CUI [2,3])
C0439673 (UMLS CUI [2,4])
C1552551 (UMLS CUI [2,5])
C3887511 (UMLS CUI [2,6])
C2881005 (UMLS CUI [2,7])
C1862839 (UMLS CUI [2,8])
C0087111 (UMLS CUI [3,1])
C0205191 (UMLS CUI [3,2])
C0149783 (UMLS CUI [3,3])
C2828389 (UMLS CUI [3,4])
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