Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population

Abstract

High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10(-4) in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10(-16), heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10(-11) to 6.16 × 10(-16). This associated locus contains three genes-MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia.

Risk factors associated with refractive error among medical students

“…The present study and many previous studies supported the observations that -Refractive errors are multifactorial with genetic and environmental factors and interaction between them, as well as -parental history of refractory error is an important risk factor for its development such as Chalasani et al, Kathrotia [25][26][27][28][29][30][31][32][33] In the present study it was found that cases have more reading hours per week (17.37) as compared to controls (11.11) and this difference in means of reading hours per week was found statistically significant (p<0.001). Similar finding was observed by Wakode et al…”

SLITRK6 mutations cause myopia and deafness in humans and mice

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A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population

“…Furthermore, genetic variants at 4q25 and 13q12.12 were revealed to be associated with high myopia in Han Chinese population. 10,11 Treating refractive error as a quantitative trait, Soluki et al 12 and Hysi et al 13 each discovered a locus for myopia at 15q14 and 15q25 in populations of European descent, respectively.…”