评估双C家族RNA结合蛋白1和Ras蛋白特异性鸟嘌呤核苷酸释放因子1作为高度近视候选基因的病例对照研究。
Assessment of BicC family RNA binding protein 1 and Ras protein specific guanine nucleotide releasing factor 1 as candidate genes for high myopia: A case-control study.
作者信息
Hepei Li, Mingkun Xie, Li Wang, Jin Wu
机构信息
Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, Sichuan 610041, PR China.
出版信息
Indian J Ophthalmol. 2017 Oct;65(10):926-930. doi: 10.4103/ijo.IJO_625_16.
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.
目的
本研究旨在通过病例对照研究评估高度近视与BicC家族RNA结合蛋白1（BICC1）基因变异以及与Ras蛋白特异性鸟嘌呤核苷酸释放因子1（RASGRF1）基因变异在中国汉族人群中的相关性。
方法
选取BICC1和RASGRF1基因中的5个标签单核苷酸多态性（TagSNP），对821名无亲缘关系的受试者进行基因分型，其中包括419名对照者（双眼等效球镜度数在±1.00D以内且眼轴长度≦24.0mm）和402名病例（至少一只眼睛的等效球镜度数≤-6.0D且眼轴长度≥26.0mm）。使用SNPstats进行统计分析。
结果
在对年龄和性别进行校正分析后，发现BICC1基因中的rs4245599在共显性、显性、隐性和对数加性模型下均与高度近视显著相关（P = 0.001、0.0015、0.0045和2e-04，比值比[OR]分别为2.15、1.59、1.73和1.46），BICC1基因中的rs10763559在显性和对数加性模型下与高度近视相关（P = 0.032和0.036，OR分别为0.72和0.78）。RASGRF1基因中的rs4778879在共显性、显性、隐性和对数加性模型下均与高度近视显著相关（P = 0.0088、0.0065、0.026和0.0021，OR分别为1.87、1.48、1.56和1.37）。然而，未发现RASGRF1基因中的rs745030与高度近视之间存在显著关联，RASGRF1基因中的rs745029也无关联。
结论
本研究表明，BICC1和RASGRF1基因变异与高度近视密切相关，这似乎是中国汉族人群中高度近视的一个潜在候选基因。鉴于本研究样本量较小，需要进一步开展工作以验证我们的结果。未来需要探索BICC1和RASGRF1在高度近视发生过程中的功能。
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