Eligibility Criteria

Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Whole exome sequencing*: 3 sets of phenotypically extreme individuals of European ancestry were whole exome sequenced. *1. Risk extremes* To target novel AMD risk and protective variants we sequenced 99 phenotypically extreme individuals; 49 cases and 50 controls. Inclusion/exclusion criteria: *Extreme cases* *Inclusion*: individuals with bilateral advanced choroidal neovascular (AREDS grade 5) AMD. *Extreme controls* *Inclusion*: unaffected controls (bilateral AREDS grade 1) with no (or very few) small drusen. *2. Progression extremes* To target variants associated with progression of AMD we whole exome sequenced 35 individuals that progressed quickly to advanced AMD (fast-progressors) and 30 individuals that did not progress quickly (maintainers): Inclusion/exclusion criteria: *Fast-progressors* *Inclusion*: individuals with at least 1 eye that progressed from AREDS grade 2, 3 or 4 to grade 5 in a year or less. *Maintainers* *Inclusion*: individuals with at least 1 eye that remained at grade 3 for at least 4 years. *3. Treatment response* To target variants associated with the response to anti-angiogenesis treatment of advanced neovascular AMD (AREDS grade 5), we whole exome sequenced 43 grade 5 individuals with a baseline exam and a follow-up exam at one year. Treatment response was defined using gain/loss of lines of vision, change in intraretinal or subretinal fluid and central retinal thickness. Treatment response was characterized qualitatively as: *1. GOOD RESPONSE* - three lines of vision gain, prolonged or persistent (at least 6 months) absence of SRF on OCT, absence of intraretinal fluid on OCT, presence of unchanged small intraretinal cysts with no recurrence of SRF; *2. PARTIAL RESPONSE* - decrease in SRF and intraretinal fluid, but not complete absence; *3. RESPONSE WITH RECURRENCE* - Recurrence of SRF and or intraretinal fluid after good response for at least 6 months; *4. POOR RESPONSE* - three lines of vision loss, persistent SRF and IRF, formation of disciform scar. *Inclusion/exclusion criteria*: *Inclusion*: Individuals with at least one follow-up exam one year (7-17 months) after baseline exam were included. *Exome-chip genotyping*: We exome-chip genotyped all individuals ascertained for this study that had not been genotyped at CIDR by the International AMD Genomics Consortium. These were done on 2 Illumina chips, 384 on the first and 356 on the second, 740 in total. We have 627 cases and 56 controls. We will provide updated phenotype files for the exome chip genotyped individuals as we continue in our analyses.
Description

Elig.phs001046.v1.p1.1

Type de données

boolean

Alias
UMLS CUI [1,1]
C3640077
UMLS CUI [1,2]
C0205403
UMLS CUI [1,3]
C0031437
UMLS CUI [1,4]
C1257905
UMLS CUI [2,1]
C0035647
UMLS CUI [2,2]
C0205403
UMLS CUI [2,3]
C0242383
UMLS CUI [2,4]
C0035647
UMLS CUI [2,5]
C0679688
UMLS CUI [2,6]
C4296572
UMLS CUI [2,7]
C1561491
UMLS CUI [2,8]
C4553389
UMLS CUI [3,1]
C1512693
UMLS CUI [3,2]
C0205403
UMLS CUI [3,3]
C1706256
UMLS CUI [3,4]
C0600518
UMLS CUI [3,5]
C0238767
UMLS CUI [3,6]
C0242383
UMLS CUI [4,1]
C1512693
UMLS CUI [4,2]
C0205403
UMLS CUI [4,3]
C0009932
UMLS CUI [4,4]
C1298908
UMLS CUI [4,5]
C0205388
UMLS CUI [4,6]
C5230293
UMLS CUI [5,1]
C0242656
UMLS CUI [5,2]
C0205403
UMLS CUI [5,3]
C0242383
UMLS CUI [5,4]
C3640077
UMLS CUI [5,5]
C0456962
UMLS CUI [5,6]
C0439834
UMLS CUI [6,1]
C1512693
UMLS CUI [6,2]
C0242656
UMLS CUI [6,3]
C0456962
UMLS CUI [6,4]
C0015392
UMLS CUI [6,5]
C1511980
UMLS CUI [6,6]
C3840696
UMLS CUI [7,1]
C0024501
UMLS CUI [7,2]
C1512693
UMLS CUI [7,3]
C0015392
UMLS CUI [7,4]
C1527428
UMLS CUI [7,5]
C1511980
UMLS CUI [7,6]
C5453208
UMLS CUI [8,1]
C0521982
UMLS CUI [8,2]
C0205419
UMLS CUI [8,3]
C0439849
UMLS CUI [8,4]
C0281318
UMLS CUI [8,5]
C0027686
UMLS CUI [8,6]
C0242383
UMLS CUI [8,7]
C1561491
UMLS CUI [8,8]
C1442488
UMLS CUI [8,9]
C4284036
UMLS CUI [8,10]
C0589120
UMLS CUI [8,11]
C4082117
UMLS CUI [9,1]
C0521982
UMLS CUI [9,2]
C1517378
UMLS CUI [9,3]
C1517945
UMLS CUI [9,4]
C0042789
UMLS CUI [9,5]
C5575232
UMLS CUI [9,6]
C1959691
UMLS CUI [9,7]
C1720164

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001046.v1.p1.1
Item
*Whole exome sequencing*: 3 sets of phenotypically extreme individuals of European ancestry were whole exome sequenced. *1. Risk extremes* To target novel AMD risk and protective variants we sequenced 99 phenotypically extreme individuals; 49 cases and 50 controls. Inclusion/exclusion criteria: *Extreme cases* *Inclusion*: individuals with bilateral advanced choroidal neovascular (AREDS grade 5) AMD. *Extreme controls* *Inclusion*: unaffected controls (bilateral AREDS grade 1) with no (or very few) small drusen. *2. Progression extremes* To target variants associated with progression of AMD we whole exome sequenced 35 individuals that progressed quickly to advanced AMD (fast-progressors) and 30 individuals that did not progress quickly (maintainers): Inclusion/exclusion criteria: *Fast-progressors* *Inclusion*: individuals with at least 1 eye that progressed from AREDS grade 2, 3 or 4 to grade 5 in a year or less. *Maintainers* *Inclusion*: individuals with at least 1 eye that remained at grade 3 for at least 4 years. *3. Treatment response* To target variants associated with the response to anti-angiogenesis treatment of advanced neovascular AMD (AREDS grade 5), we whole exome sequenced 43 grade 5 individuals with a baseline exam and a follow-up exam at one year. Treatment response was defined using gain/loss of lines of vision, change in intraretinal or subretinal fluid and central retinal thickness. Treatment response was characterized qualitatively as: *1. GOOD RESPONSE* - three lines of vision gain, prolonged or persistent (at least 6 months) absence of SRF on OCT, absence of intraretinal fluid on OCT, presence of unchanged small intraretinal cysts with no recurrence of SRF; *2. PARTIAL RESPONSE* - decrease in SRF and intraretinal fluid, but not complete absence; *3. RESPONSE WITH RECURRENCE* - Recurrence of SRF and or intraretinal fluid after good response for at least 6 months; *4. POOR RESPONSE* - three lines of vision loss, persistent SRF and IRF, formation of disciform scar. *Inclusion/exclusion criteria*: *Inclusion*: Individuals with at least one follow-up exam one year (7-17 months) after baseline exam were included. *Exome-chip genotyping*: We exome-chip genotyped all individuals ascertained for this study that had not been genotyped at CIDR by the International AMD Genomics Consortium. These were done on 2 Illumina chips, 384 on the first and 356 on the second, 740 in total. We have 627 cases and 56 controls. We will provide updated phenotype files for the exome chip genotyped individuals as we continue in our analyses.
boolean
C3640077 (UMLS CUI [1,1])
C0205403 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C1257905 (UMLS CUI [1,4])
C0035647 (UMLS CUI [2,1])
C0205403 (UMLS CUI [2,2])
C0242383 (UMLS CUI [2,3])
C0035647 (UMLS CUI [2,4])
C0679688 (UMLS CUI [2,5])
C4296572 (UMLS CUI [2,6])
C1561491 (UMLS CUI [2,7])
C4553389 (UMLS CUI [2,8])
C1512693 (UMLS CUI [3,1])
C0205403 (UMLS CUI [3,2])
C1706256 (UMLS CUI [3,3])
C0600518 (UMLS CUI [3,4])
C0238767 (UMLS CUI [3,5])
C0242383 (UMLS CUI [3,6])
C1512693 (UMLS CUI [4,1])
C0205403 (UMLS CUI [4,2])
C0009932 (UMLS CUI [4,3])
C1298908 (UMLS CUI [4,4])
C0205388 (UMLS CUI [4,5])
C5230293 (UMLS CUI [4,6])
C0242656 (UMLS CUI [5,1])
C0205403 (UMLS CUI [5,2])
C0242383 (UMLS CUI [5,3])
C3640077 (UMLS CUI [5,4])
C0456962 (UMLS CUI [5,5])
C0439834 (UMLS CUI [5,6])
C1512693 (UMLS CUI [6,1])
C0242656 (UMLS CUI [6,2])
C0456962 (UMLS CUI [6,3])
C0015392 (UMLS CUI [6,4])
C1511980 (UMLS CUI [6,5])
C3840696 (UMLS CUI [6,6])
C0024501 (UMLS CUI [7,1])
C1512693 (UMLS CUI [7,2])
C0015392 (UMLS CUI [7,3])
C1527428 (UMLS CUI [7,4])
C1511980 (UMLS CUI [7,5])
C5453208 (UMLS CUI [7,6])
C0521982 (UMLS CUI [8,1])
C0205419 (UMLS CUI [8,2])
C0439849 (UMLS CUI [8,3])
C0281318 (UMLS CUI [8,4])
C0027686 (UMLS CUI [8,5])
C0242383 (UMLS CUI [8,6])
C1561491 (UMLS CUI [8,7])
C1442488 (UMLS CUI [8,8])
C4284036 (UMLS CUI [8,9])
C0589120 (UMLS CUI [8,10])
C4082117 (UMLS CUI [8,11])
C0521982 (UMLS CUI [9,1])
C1517378 (UMLS CUI [9,2])
C1517945 (UMLS CUI [9,3])
C0042789 (UMLS CUI [9,4])
C5575232 (UMLS CUI [9,5])
C1959691 (UMLS CUI [9,6])
C1720164 (UMLS CUI [9,7])