A Novel Genetic Variant of BMP2K Contributes to High Myopia
A Novel Genetic Variant of BMP2K Contributes to High Myopia
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DOI：
10.1002/jcla.20344
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发表时间：
2009-01-01
影响因子：
2.7
通讯作者：
Tsai, Fuu-Jen
中科院分区：
文献类型：
--
作者：
Liu, Hsin-Ping;Lin, Ying-Ju;Tsai, Fuu-Jen
眼睛生长调节的丧失可能导致近视，因为光学地球仪尺寸的调节对于正常光功率的产生是必不可少的。有证据表明，BMP 2基因表达的变化介导了眼发育和视网膜组织重塑。鉴于BMP 2作为参与近视发展的潜在调节因子，我们研究在BMP 2诱导的成骨细胞分化过程中表达上调的基因BMP 2诱导激酶（BMP 2K，BIKe）是否有助于高度近视的易感性。高度近视组的参与者的等效球镜大于-6.00 D，而对照组的等效球镜小于-0.5 D。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和关联分析方法，对高度近视患者和健康对照者的BMP 2K基因1379 G/A（rs 2288255）和3171 C/G（rs-12507099）多态性（对应405 Gly/Ser和1002 Thr/Ser变异）进行基因分型。BMP 2K基因1379 G/A多态性A等位基因频率在病例组与对照组之间差异有显著性（P
Loss of eye growth regulation may cause myopia, because modulation of optic globe size is essential for the generation of normal optic power. Evidence has implied variations of BMP2 gene expression mediate ocular development and retinal tissue remodeling. Given BMP2 as a potential regulator involved in myopia development, we investigate whether gene BMP2-inducible kinase (BMP2K, BIKe), whose expression is up-regulated during BMP2-induced osteoblast differentiation, contributes to susceptibility of high myopia. Participants grouped into high myopia had a spherical equivalent greater than -6.00 D, compared with a control group of spherical equivalent less than -0.5 D. Genotyping of polymorphisms 1379 G/A (rs2288255) and 3171 C/G (rs-12507099), corresponding with 405 Gly/Ser and 1002 Thr/Ser variation in the BMP2K gene were determined by PCR-restriction fragment length polymorphism and associative study performed by comparing high myopic subjects and healthy controls. The frequency of A allele in the BMP2K gene 1379 G/A polymorphism showed a significant difference between cases and controls (P