Table 3.
Genome-wide association studies in refractive error and axial length.
| First Author | Publication Date * | Discovery Stage | Replication Stage | Genes/Loci ** |
|---|---|---|---|---|
| Phenotype: Refractive error | ||||
| Hysi P.G. [98] | 14 September 2010 | 4270 European ancestry individuals | 13,414 European ancestry individuals | RASGRF1 |
| Solouki A.M. [100] | 14 September 2010 | 5328 individuals predominantly European ancestry (>99%) | 10,280 individuals predominantly European ancestry (>99%) | GJD2-ACTC1 |
| Verhoeven V.J. [102] | 12 February 2013 | Stage 1: 37,382 European ancestry individuals; Stage 2: 8376 Asian ancestry individuals (meta-GWAS) | CD55, PRSS56, CHRNG, CACNA1D, LAMA2, CHD7, TOX, ZMAT4, RORB, CYP26A1 and 16 genes/loci | |
| Stambolian D. [103] | 12 March 2013 | 7280 European ancestry individuals | 19,673 European ancestry individuals | RBFOX1 |
| Fan Q. [105] | 30 March 2016 | 40,036 European and 10,315 Asian ancestry individuals (meta-GWAS) | LAMA2, GJD2, KCNQ5, FBN1, TOX, DIS3L, FAM150B-ACP1, LINC00340, A2BP1, RDH5 and 15 genes/loci | |
| Tedja M.S. [113] | 28 May 2018 | Stage 1: 44,192 European and 11,935 Asian ancestry individuals; Stage 2: 104,293 European ancestry individuals; Stage 3: j meta-GWAS | 95,505 European ancestry individuals | LAMA2, GJD2, KCNQ5, LRRC4C, RDH5, RBFOX1, SNORA51, PRSS56, SHISA6, ZMAT4 and 130 genes/loci |
| Hysi P.G. [19] | 30 March 2020 | 508,855 European ancestry individuals | 34,079 European ancestry individuals | LAMA2, GJD2, KCNQ5, RBFOX1, LRRC4C, BLOC1S1-RDH5, TOX, PRSS56, ZMAT4, SHISA6 and 439 genes/loci |
| Phenotype: Axial length | ||||
| Fan Q. [108] | 7 June 2012 | 1860 Chinese adults, 929 Chinese children, and 2155 Malay adults | NA | ZC3H11B |
| Cheng C.Y. [109] | 8 August 2013 | 12,531 European ancestry individuals | 8216 Asian ancestry individuals | RSPO1, ZC3H11B, GJD2, C3orf26, LAMA2, ZNRF3, CD55, ALPPL2, MIP |
| Miyake M. [111] | 31 March 2015 | 3248 Japanese ancestry individuals | 5383 Asian and 2690 Caucasian ancestry individuals | WNT7B |
* Epub data or the earliest publication data; ** If the study reported more than 10 significant genes/loci, then only the name of top 10 genes/loci were shown in the table.