Myopia

Myopia is also known as nearsightedness. The following genes appear to be associated with myopia.

• TGFB1
  • rs1982073 (now rs1800470). Carriers of two C alleles are about 1.8x more likely to have high myopia. [PMID 16807529] [PMID 19365037]
  • rs4803455 The T allele is associated with lower risk of myopia with an odds ratio of 0.67 (95% confidence interval, 0.53-0.86; P = .001) [PMID 19365037]

• TGFB2
  • rs991967 [PMID 19710942]

• UMODL1
  • rs2839471 The T allele was associated with 1.68 greater risk of myopia in a study of more than 500 Japanese patients. [PMID 18535602]

• CNGB3 Defects in this gene can cause color blindness.
  • rs13265557 is associated with 1.6 times greater risk of high myopia.
  • rs3735972
  • rs4961206
  • rs6471482

• SALL1
  • rs13336129
  • rs4614723

• COL2A1
  • rs3803183

• ADAMTS10
  • rs7252299
  • rs7255721

• BMP2K [PMID 19927351]
  • rs2288255
  • rs12507099

• CHRM1 [PMID 19753311]
  • rs11823728
  • rs544978
  • rs2186410
  • rs542269

• PPP2R4
  • rs913275 [PMID 19324860]

• WDR41
  • rs163016 [PMID 19324860]

• HGF [PMID 19471602]
  • rs2286194
  • rs12536657
  • rs3735520

• LUM [PMID 19643966]
  • rs3759223
  • rs3832846
  • rs17853500
  • rs17018757

• COL2A1 [PMID 19387081]
  • rs1034762
  • rs1793933
  • rs1635529

• PAX6
  • rs3026393 The relative risk was 2.57 for (G;T) and 2.22 for (T;T) versus (G;G). [PMID 19124844]

• FGF2 [PMID 19710942]
  • rs308395
  • rs41348645

Other SNPs have also been associated with high myopia:

• rs17122571 [PMID 19387081]
• rs3026390 [PMID 19124844]
• rs2421853 [PMID 19260140]
• rs17501108 [PMID 19471602]
• rs337663 and rs1520724 [PMID 19324860]
• rs7550232 and rs7543418 [PMID 19710942]
• rs577948 [PMID 19779542]