Table 2.
Summary of the Studies and Study Design in Which rs634990 and rs524952 Have Been Associated With Myopia or Related Phenotypes
| Variant | Pos (hg38) | Ref | Alt | Discovery Study | Study Design | Outcome | Cohort (N) | Replicated in | Study Design | Trait | Study Cohorts (N) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs634990 | 34713872 | T | C | Solouki et al. (2010)15 | GWAS | MSE | RS-I (5,328) and RS-2 and 3, Erasmus Ruchpen Family Study an Twins UK (replication, 10,280). | Stambolian et al. (2013)16 | GWAS meta-analysis | MSE | AREDS; KORA; FES; OGP-Talana, the Multiethnic Study of Atherosclerosis (7,280 [26,953 replication]) |
| Hysi et al. (2010)10 | GWAS | Refractive error | TwinUK (4270) | ||||||||
| Verhoeven et al. (2012)17 | GWAS meta-analysis | MSE | 31 studies from CREAM (49363) | ||||||||
| Schache et al. (2013)13 | Genetic association study | Refractive error | BMES (1571) | ||||||||
| Schache et al. (2013)13 | GWAS | Axial length | BMES (1571) | ||||||||
| rs524952 | 34713685 | T | A | Verhoeven et al. (2012)17 | GWAS meta-analysis | MSE | 31 studies from CREAM (49363) | Stambolian et al. (2013)16 | GWAS meta-analysis | MSE | AREDS; KORA; FES; OGP-Talana, the Multiethnic Study of Atherosclerosis (7,280 [26,953 replication]) |
| Schache et al. (2013)13 | Genetic association study | Refractive error | BMES (1571) | ||||||||
| Simpson et al. (2013)38 | GWAS | Refractive error | AREDS (2000) | ||||||||
| Verhoeven et al. (2013)18 | GWAS meta-analysis | MSE | 32 studies from CREAM (45,758) | ||||||||
| Kiefer et al. (2013)11 | Survival analysis | Age of first spectacle wear (23 and me) | 23andMe (45,771) | ||||||||
| Hayashi et al. (2011)9 | Case-control design | High myopia | Japanese (1125 vs. 366 [cataract] or 929 [healthy]) | ||||||||
| Tideman et al. (2016)21 | Meta-analysis of linear regression | AL/CR ratio | 18 cohorts from CREAM (26,764) | ||||||||
| Yoshikawa et al. (2014)19 | GWAS | MSE | The Nagahama Study (3712) | ||||||||
| Fan et al. (2016)37 | GxE: meta-analysis of linear regression MSE and educational attainment | MSE | 34 studies from CREAM (50,351) | ||||||||
| Tedja et al. (2018)6 | GWAS | MSE | 37 studies from CREAM and two from 23andMe (discovery 160,420 and replication 95,505) | ||||||||
| Hysi et al. (2020)7 | GWAS meta-analysis | MSE | UK Biobank, GERA, 23andMe, and CREAM Consortium studies (542,934) |
Abbreviations: RS, Rotterdam Study; MSE, mean spherical equivalent; AREDS, Age-Related Eye Disease Study; KORA, Cooperative Health Research in the Region of Augsburg; FES, Framingham Eye Study; OGP-Talana, the Ogliastra Genetic Park-Talana; CREAM, Consortium for refractive error and myopia; BMES, Blue Mountains Eye Study; AL/CR, axial length corneal radius ratio; GERA, Genetic Epidemiology Research on Adult Health and Aging.