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.