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. 2017 Sep 26;66(12):3130–3141. doi: 10.2337/db17-0398

Table 1.

Details of each study population

Study Country Year Ethnicity Genotyping platform Imputation (reference pool/quality cut-off threshold/adjustment in association tests) DR ascertainment method DR grading method DR phenotypes (number of case and control subjects)
AAPDR
U.S.
2012–2013
African American
Affymetrix 5.0
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (274, 56)
2. PDR (255, 56)
AGES Reykjavik
Iceland
2002–2006
Caucasian
Illumina HumanCNV370-Duo BeadChip
HapMap Phase II/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (85, 222)
AUST
Australia
2006–2011
Caucasian
Illumina Human OmniExpress BeadChip
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Clinical diagnosis
ETDRS
1. Any DR (522, 435)
2. PDR (187, 435)
BMES
Australia
1992–1994, 1997–2000, 2002–2004, 2007–2010
Caucasian
Illumina Human670-Quad Custom BeadChip
1000 Genomes, HapMap Phase II/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (124, 208)
CHS-AA
U.S.
1997–1998
African American
Illumina HumanOmni1-Quad v1.0 BeadChip
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (22, 39)
CHS-Whites
U.S.
1997–1998
Caucasian
Illumina HumanCNV370-Duo BeadChip
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (28, 143)
Genetic Center, China Medical University Hospital, Taiwan
Taiwan
2006–2007
Chinese
Illumina HumanHap550-Duo BeadChip
1000 Genomes/INFO >0.4, MAF >5%/no
Clinical diagnosis
AAO
1. Any DR (177, 579)
2. Severe NPDR/PDR (78, 579)
GOLDR
U.S.
2007–2011
Hispanic
Illumina OmniExpress Chip
1000 Genomes/INFO >0.3/yes
Retinal photography
ETDRS
1. Any DR (292, 221)
2. Severe NPDR/PDR (78, 221)
JHS
U.S.
2010–2012
African American
Affymetrix 5.0
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (91, 160)
2. PDR (12, 160)
MESA-AA
U.S.
2002–2004
African American
Affymetrix 6.0
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (101, 258)
2. PDR (11, 258)
MESA-CHN
U.S.
2002–2004
Chinese
Affymetrix 6.0
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (25, 79)
MESA-EU
U.S.
2002–2004
Caucasian
Affymetrix 6.0
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (38, 200)
MESA-HIS
U.S.
2002–2004
Hispanic
Affymetrix 6.0
1000 Genomes/INFO >0.6, MAF >1%, or >5 copies in imputed data/no
Retinal photography
ETDRS
1. Any DR (88, 179)
SCES
Singapore
2009–2011
Chinese
Illumina Human610-Quad BeadChip
1000 Genomes/R2 >0.8/yes
Retinal photography
ETDRS
1. Any DR (71, 168)
2. Severe NPDR/PDR (12, 168)
SiMES
Singapore
2004–2006
Malay
Illumina Human610-Quad BeadChip
1000 Genomes/R2 >0.8/yes
Retinal photography
ETDRS
1. Any DR (198, 363)
2. Severe NPDR/PDR (37, 363)
SINDI
Singapore
2007–2009
Indian
Illumina Human610-Quad BeadChip
1000 Genomes/R2 >0.8/yes
Retinal photography
ETDRS
1. Any DR (304, 537)
2. Severe NPDR/PDR (49, 537)
Starr County Health Studies
U.S.
1981–2009
Hispanic
Affymetrix Genome-wide SNP Array 6.0
1000 Genomes/R2 >0.5/yes
Retinal photography
ETDRS
1. Any DR (529, 249)
2. Severe NPDR/PDR (124, 654)
TUDR Taiwan 1996–2011 Chinese 1. Illumina OmniExpress 730 K Array
2. Illumina iSelect 200 K Cardio-MetaboChip 1000 Genomes/INFO >0.4/no Clinical diagnosis AAO 1. PDR (434, 549)

INFO, imputation quality metric; MAF, minor allele frequency.