Skip to main content
. 2022 Mar 9;9(3):382. doi: 10.3390/children9030382

Table 2.

Genome-wide association studies in myopia and top findings.

First Author Publication Date * Phenotype Discovery Stage Replication Stage Genes/Loci **
Cases Controls Cases Controls
Nakanishi H. [86] 25 September 2009 High myopia 297 Japanese ancestry 934 Japanese ancestry 533 Japanese ancestry 977 Japanese ancestry BLID-LOC399959
Li Y.J. [57] 20 November 2010 High myopia 65 children and 222 adults of Singaporean Chinese 238 children and 435 adults of Singaporean Chinese 959 Japanese ancestry 2128 Japanese ancestry CTNND2
Li Z. [88] 19 April 2011 High myopia 102 Chinese ancestry 335 Chinese ancestry 2891 Chinese ancestry 10,071 Chinese ancestry 4q25
Shi Y. [47] 2 June 2011 High myopia 419 Chinese ancestry 669 Chinese ancestry 2803 Chinese ancestry 5642 Chinese ancestry MIPEP
Meng W. [90] 9 October 2012 High myopia 187 European ancestry 1064 European ancestry NA NA CDH8, DHX15, SAMD5, LINC02434, PSMD10P2, KNG1, RNU6-1129P, GNPATP, RNU6-66P, RNU4-10P, LINC00603, SPATA22, ASPA and 53 genes/loci
Shi Y. [91] 28 February 2013 High myopia 665 Han Chinese ancestry 960 Han Chinese ancestry 2128 Han Chinese ancestry 3683 Han Chinese ancestry SNTB1, PCDH1, VIPR2
Khor C.C. [92] 9 August 2013 High myopia 1603 East Asian ancestry 3427 East Asian ancestry 1241 East Asian ancestry 3559 East Asian ancestry SNTB1, ZFHX1B
Simpson C.L. [93] 18 September 2014 Myopia 3923 European ancestry 11,696 European ancestry 4331 European ancestry 4169 European ancestry LAMA2, GJD2, RBFOX1
Pickrell J.K. [94] 16 May 2016 Myopia 106,086 European ancestry 85,757 European ancestry NA NA LAMA2, LRRC4C, GJD2, RDH5, PRSS56, ZMAT4, DLG2, PCCA-DT, NDUFA12P1, SHISA6, BMP3 and 41 genes/loci
Meguro A. [95] 16 May 2020 High myopia 1632 Japanese ancestry 1586 Japanese ancestry 881 East Asian ancestry 9946 East and Southeast Asian ancestry HIVEP3, NFASC, ZC3H11B, CNTN4-CNTN6, FRMD4B, LINC02418, GJD2, RASGRF1, AKAP13

* 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.