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Myopia is the most common ocular disease worldwide. We investigated the association of high myopia with the common single nucleotide polymorphisms (SNPs) of five candidate genes – early growth response 1 ( EGR1 ), v-fos FBJ murine osteosarcoma viral oncogene homolog ( FOS ), jun oncogene ( JUN ), vasoactive intestinal peptide ( VIP ), and vasoactive intestinal peptide receptor 2 ( VIPR2 ). We recruited 1200 unrelated Chinese subjects with 600 cases (spherical equivalent ≤−8.00 diopters) and 600 controls (spherical equivalent within ±1.00 diopter). A discovery sample set was formed from 300 cases and 300 controls, and a replication sample set from the remaining samples. Tag SNPs were genotyped for the discovery sample set, and the most significant haplotypes and their constituent SNPs were followed up with the replication sample set. The allele and haplotype frequencies in cases and controls were compared by logistic regression adjusted for sex and age to give  P   a  values, and multiple comparisons were corrected by permutation test to give  P   aemp  values. Odd ratios (OR) were calculated accordingly. In the discovery phase,  EGR1 ,  JUN  and  VIP  did not show any significant association while  FOS  and  VIPR2  demonstrated significant haplotype association with high myopia. In the replication phase, the haplotype association for  VIPR2  was successfully replicated, but not  FOS . In analysis combining both sample sets, the most significant association signals of  VIPR2  were the single marker rs2071625 ( P   a  = 0.0008,  P   aemp  = 0.0046 and OR = 0.75) and the 4-SNP haplotype window rs2071623-rs2071625-rs2730220-rs885863 (omnibus test,  P   a  = 9.10e-10 and  P   aemp  = 0.0001) with one protective haplotype (GGGG:  P   aemp  = 0.0002 and OR = 0.52) and one high-risk haplotype (GAGA:  P   aemp  = 0.0027 and OR = 4.68). This 4-SNP haplotype window was the most significant in all sample sets examined. This is the first study to suggest a role of  VIPR2  in the genetic susceptibility to high myopia.  EGR1 ,  JUN ,  FOS  and  VIP  are unlikely to be important in predisposing humans to high myopia.

Genetic Susceptibility to Refractive Error: Association of Vasoactive Intestinal Peptide Receptor 2 (VIPR2) with High Myopia in Chinese