Abstract
PURPOSE: The aim is to evaluate the association between high myopia and genetic variant in the BicC family RNA binding protein 1 (BICC1) as well as its association with Ras protein specific guanine nucleotide releasing factor 1 (RASGRF1) genes in a Chinese Han population with a case-control study. METHODS: Five TagSNPs in BICC1 and RASGRF1 genes were selected and genotyped in 821 unrelated subjects, which composed of 419 controls (spherical equivalent within ±1.00 D in both eyes and axial length ≦24.0 mm) and 402 cases (spherical equivalent ≤-6.0D in at least one eye and axial length ≥26.0 mm). Statistical analysis was performed with SNPstats. RESULTS: After an analysis adjusted by age and sex, rs4245599 in BICC1 was found to be significantly associated with high myopia under the codominant, dominant, recessive and log-additive model (P = 0.001, 0.0015, 0.0045 and 2e-04, odds ratio [OR] = 2.15, 1.59, 1.73 and 1.46, respectively), and rs10763559 in BICC1 was associated with high myopia and under the dominant and log-additive model (P = 0.032 and 0.036, OR = 0.72 and 0.78, respectively). Rs4778879 in RASGRF1 was found to be significantly associated with high myopia under codominant, dominant, recessive, and log-additive model (P = 0.0088, 0.0065, 0.026, and 0.0021, OR = 1.87, 1.48, 1.56, and 1.37, respectively). However, no significant association was found between rs745030 in RASGRF1 and high myopia, neither was there any association of rs745029 in RASGRF1. CONCLUSION: The present study indicated that genetic variants in BICC1 and RASGRF1 are closely associated with high myopia, which appears to be a potential candidate for high myopia in Chinese Han population. Considering the small sample size of this study, further work is needed to validate our results. The function of BICC1 and RASGRF1 in the process of developing high myopia needs to be explored in the future.