| 李 雪,康 杨,王海晶,胡 琦,徐 静,吴 琼.COL1A1及IGF-1基因与中国北方汉族人群高度近视相关性研究[J].,2019,19(12):2329-2333 |
| COL1A1及IGF-1基因与中国北方汉族人群高度近视相关性研究 |
| A Correlative Study on the COL1A1 and IGF-1 Gene with High Myopia in a Chinese North Population |
| 投稿时间：2019-04-07 修订日期：2019-04-30 |
| DOI：10.13241/j.cnki.pmb.2019.12.028 |
| 中文关键词: 高度近视 COL1A1 IGF-1 单核苷酸多态性 |
| 英文关键词: High myopia COL1A1 IGF-1 Axial length |
| 基金项目:黑龙江省哈尔滨市科技创新人才研究专项基金项目(2010RFLXS010)；黑龙江省教育厅科学技术基金项目(12521263)；黑龙江省人事厅留学回国人员基金项目 |
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| 中文摘要: |
| 摘要 目的：探讨I型胶原α1链（ collagen I alpha-1，COL1A1）基因和类胰岛素生长因子-1 (insulin-like growth factors-1, IGF-1)基因与中国北方汉族人群高度近视的相关性。方法：收集2011年10月~2017年1月经我院眼科视光学中心诊疗的高度近视眼患者286例(病例组)及正常对照者201例(对照组)，病例组按照眼球中轴长度分为A组(眼轴长度≥27 mm)126例和B组(眼轴长度＜27 mm)160例。用血液基因组DNA提取试剂盒提取受试者外周静脉抗凝血中的基因组DNA，采用多重PCR反应和基因测序得到目标片段COL1A1基因的多态位点rs2075555、rs2075554、rs2269336、rs1107946、rs1007086，IGF-1基因的多态位点rs12423791、rs10860860、rs2946834、rs6214的碱基序列，用卡方检验和Logistic回归分析的方法分析病例组和对照组之间各基因分布的差异。结果：病例组和正常对照组COL1A1基因的单核苷酸多态性位点的基因型频率和等位基因频率均无显著性差异(P >0.05)。病例组和正常对照组IGF-1基因的rs12423791位点的基因型频率和等位基因频率有统计学差异(P=0.016)，其他3个位点的单核苷酸多态性位点均无显著性差异(P >0.05)。病例A组和对照组及A组和B组之间COL1A1基因的5个单核苷酸多态性位点分布均无显著性差异(P >0.05)，IGF-1基因的rs12423791位点有统计学差异(P=0.033)。结论：胶原类基因COL1A1的多态性与中国北方汉族人群高度近视的发生无显著相关性，IGF-1基因的rs12423791位点的多态性与中国北方汉族人群高度近视的发生有显著相关性。 |
| 英文摘要: |
| ABSTRACT Objective: This present study was conducted to investigate whether collagen I alpha-1 (COL1A1) and insulin-like growth factors-1 (IGF-1) are associated with high myopia in Chinese north population by polymerase chain reaction. Methods: 286 case with high myopia and 201 normal persons were studied from Oct, 2016 to Jan.2018. The high myopia patients came from ophthalmology department of the first Affiliated hospital of Harbin Medical University. The control group came from population undertaking healthy physical examination in the physical examination center in the same hospital without high myopia. High myopia group was divided into two groups by axial length: group A ≥ 27 mm and group B< 27 mm. Genomic DNA was extracted from the blood and the polymorphism genetic type of COL1A1 and IGF-1 gene were analyzed by polymerase chain reaction. The distribution differences of COL1A1 and IGF-1 gene were analyzed by chi-square test and regression Logistic analysis. Results: No Signicant association was identied among five SNPs (rs2075555, rs2075554, rs2269336, rs1107946, rs1007086) of the COL1A1 locus in high-grade myopia (P>0.05). No statistitical difference was found for the genotypic and allelic distributions of the polymorphisms in COL1A1 gene between group A and the controls, group A and group B(P>0.05). SNPs in the IGF-1 region (rs12423791) showed a significant association with high myopia(P<0.05), the others of IGF-1 region (rs10860860, rs2946834, rs6214) was not found to be significantly associated with high myopia. Statistitical difference was found for the genotypic and allelic distributions of the polymorphisms in IGF-1 (rs12423791) between group A and the controls, group A and group B(P<0.05). Conclusion: SNPs in COL1A1( rs2075555, rs2075554, rs2269336, rs1107946, rs1007086) and IGF-1 (rs10860860, rs2946834, rs6214) are not significantly associated with high myopia in the Han Chinese north population. And the IGF-1 (rs12423791) showed a significant association with high myopia. |
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