Evaluation of MMP2 as a candidate gene for high myopia
文献类型：期刊论文
| 作者 | Gong, Bo ; Liu, Xiaoqi ; Zhang, Dingding ; Wang, Pu ; Huang, Lulin ; Lin, Ying ; Lu, Fang ; Ma, Shi ; Cheng, Jing ; Chen, Rong ; Li, Xiaobo ; Lin, He ; Zeng, Guangqun ; Zhu, Xiong ; Hu, Jianbin ; Yang, Zhenglin ; Shi, Yi |
| 刊名 | MOLECULAR VISION
 |
| 出版日期 | 2013 |
| 卷号 | 19页码:121-127 |
| ISSN号 | 1090-0535 |
| 产权排序 | 3 |
| 通讯作者 | Shi, Y (reprint author), Sichuan Acad Med Sci, Sichuan Key Lab Dis Gene Study, 32 Rd W 2,1st Ring, Chengdu 610072, Sichuan, Peoples R China. |
| 英文摘要 | Purpose: Matrix metalloproteinase 2 (MMP2) has been shown to be expressed in the human sclera, and is increased in the sclera of the eye with myopia induced by form deprivation in chicks when compared with the control eye. The purpose of this study was to examine the relationship between high myopia and MMP2 in a mainland Han Chinese population. Methods: Four hundred unrelated patients with high myopia and 400 normal controls in a mainland Han Chinese population were studied. All the subjects were genotyped for 20 tag single nucleotide polymorphisms (SNPs) in MMP2 with the dye terminator-based SNaPshot method. The distribution of the genotypes in the cases and controls was compared with chi(2) test. Screening for mutations in the coding regions and the adjacent intronic regions of MMP2 was performed in 200 patients with high myopia and 200 normal controls by direct sequencing. Results: None of the 20 tested SNPs showed significant association with high myopia in this study. Seven variations were detected upon sequencing of the coding regions and the adjacent intronic regions of MMP2 in 200 subjects with high myopia and 200 normal controls. One novel variation, c.1287G>A (p.K429K), was detected in 79 of the 200 patients with high myopia (65 heterozygous and 14 homozygous) and in 84 of the 200 controls (67 heterozygous and 17 homozygous). The c.1810G>A mutation (p. Arg500His) was detected in three of the 200 patients with high myopia but not in the controls. The five other variations, known as polymorphisms, were detected in the case and control groups. Conclusions: We found no evidence that MMP2 is responsible for high myopia in these Han Chinese subjects and hence is unlikely to be important in the genetic predisposition to high myopia. Our results imply that MMP2 may not play a major role in high myopia in the Han Chinese population. |
| 学科主题 | Biochemistry & Molecular Biology; Ophthalmology |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000314909600003 |
| 公开日期 | 2014-11-21 |
| 源URL | [http://210.75.237.14/handle/351003/24181]  |
| 专题 | 成都生物研究所_天然产物研究 |
| 推荐引用方式 GB/T 7714 | Gong, Bo,Liu, Xiaoqi,Zhang, Dingding,et al. Evaluation of MMP2 as a candidate gene for high myopia[J]. MOLECULAR VISION,2013,19:121-127. |
| APA | Gong, Bo.,Liu, Xiaoqi.,Zhang, Dingding.,Wang, Pu.,Huang, Lulin.,...&Shi, Yi.(2013).Evaluation of MMP2 as a candidate gene for high myopia.MOLECULAR VISION,19,121-127. |
| MLA | Gong, Bo,et al."Evaluation of MMP2 as a candidate gene for high myopia".MOLECULAR VISION 19(2013):121-127. |
入库方式： OAI收割
来源：成都生物研究所
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