立陶宛近视的遗传度及其与GDJ2和RASGRF1基因的关系。
Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania.
作者信息
Kunceviciene Edita, Sriubiene Margarita, Liutkeviciene Rasa, Miceikiene Ilona T, Smalinskiene Alina
机构信息
Institute of Biology Systems and Genetic Research, Lithuanian University of Health Sciences, 18 Tilzes St, Kaunas, Lithuania.
Department of Ophthalmology, Lithuanian University of Health Sciences, 2 Eiveniu St, Kaunas, Lithuania.
出版信息
BMC Ophthalmol. 2018 May 24;18(1):124. doi: 10.1186/s12886-018-0787-1.
BACKGROUND
This study aimed to assess heritability of myopia in Lithuania and evaluate both genes GJD2 (Gap Junction Protein, Delta 2) and RASGRF1 (RAS protein-specific guanine nucleotide-releasing factor 1) relation with myopia.
METHODS
In this study Lithuanian twin population aged between 18 and 40 (n = 460) were examined. Single-nucleotide polymorphisms of the RASGRF1 (rs8027411) and GJD2 (rs634990) genes were assessed by real-time polymerase chain reaction method.
RESULTS
Intrapair correlations for spherical equivalent in all twin pairs were significantly higher in MZ twin pairs r = 0.539 (p < 0.001, 95% CI 0.353-0.684) than in DZ twin pairs r = 0.203 (p < 0.01, 95% CI 0.0633-0.442) in myopia group. Correlations for spherical equivalent in emmetropia group were not significant in MZ twin pairs r = 0.091 (p > 0.05, 95% CI -0.215-0.381) and in DZ twin pairs r = - 0.220 (p > 0.05, 95% CI -0.587-0.222). The odds ratio (95% CI) were 2.7 (1.018-7.460) for combinations of genotypes of rs634990 CC and rs8027411 GT (p = 0.046).
CONCLUSIONS
Our studies have shown that the heritability of myopia makes 67.2% in Lithuania. Persons with combinations of genotypes rs634990 CC and rs8027411 GT have 2.7 times higher odds to have myopia.
背景
本研究旨在评估立陶宛近视的遗传力，并评估基因GJD2（间隙连接蛋白，δ2）和RASGRF1（RAS蛋白特异性鸟嘌呤核苷酸释放因子1）与近视的关系。
方法
本研究对年龄在18至40岁之间的立陶宛双胞胎群体（n = 460）进行了检查。通过实时聚合酶链反应方法评估RASGRF1（rs8027411）和GJD2（rs634990）基因的单核苷酸多态性。
结果
在近视组中，所有双胞胎对的球镜等效度数的对内相关性在同卵双胞胎对中显著高于异卵双胞胎对，同卵双胞胎对r = 0.539（p < 0.001，95%可信区间0.353 - 0.684），异卵双胞胎对r = 0.203（p < 0.01，95%可信区间0.0633 - 0.442）。在正视组中，同卵双胞胎对的球镜等效度数相关性不显著，r = 0.091（p > 并评估基因GJD2（间隙连接蛋白，δ2）和RASGRF1（RAS蛋白特异性鸟嘌呤核苷酸释放因子1）与近视的关系。
方法
本研究对年龄在18至40岁之间的立陶宛双胞胎群体（n = 460）进行了检查。通过实时聚合酶链反应方法评估RASGRF1（rs8027411）和GJD2（rs634990）基因的单核苷酸多态性。
结果
在近视组中，所有双胞胎对的球镜等效度数的对内相关性在同卵双胞胎对中显著高于异卵双胞胎对，同卵双胞胎对r = 0.539（p < 0.001，95%可信区间0.353 - 0.684），异卵双胞胎对r = 0.203（p < 0.01，95%可信区间0.0633 - 0.442）。在正视组中，同卵双胞胎对的球镜等效度数相关性不显著，r = 0.091（p > 0.05，95%可信区间 -0.215 - 0.381），异卵双胞胎对r = -0.220（p > 0.05，95%可信区间 -0.587 - 0.222）。rs634990 CC和rs8027411 GT基因型组合的优势比（95%可信区间）为2.7（1.018 - 7.460）（p = 0.046）。
结论
我们的研究表明，立陶宛近视的遗传力为67.2%。rs634990 CC和rs8027411 GT基因型组合的人患近视的几率高2.7倍。
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