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Exome sequencing identifies ZNF644 mutations in high myopia.外显子组测序发现高度近视中 ZNF644 突变。
PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9.
2
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.13q12.12 上的遗传变异与汉族人群的高度近视有关。
Am J Hum Genet. 2011 Jun 10;88(6):805-813. doi: 10.1016/j.ajhg.2011.04.022. Epub 2011 Jun 6.
3
Role of bone morphogenetic proteins in form-deprivation myopia sclera.骨形态发生蛋白在形觉剥夺性近视巩膜中的作用。
Mol Vis. 2011 Mar 8;17:647-57.
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Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta.中国成骨不全患者I型胶原基因的突变特征
Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.
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Prevalence and risk factors for refractive errors in Indians: the Singapore Indian Eye Study (SINDI).印度人屈光不正的患病率和危险因素:新加坡印度眼研究 (SINDI)。
Invest Ophthalmol Vis Sci. 2011 May 16;52(6):3166-73. doi: 10.1167/iovs.10-6210.
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Nature and nurture: the complex genetics of myopia and refractive error.先天与后天:近视与屈光不正的复杂遗传学。
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Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family.在中国一个家族中5号染色体p13.3-p15.1区域常染色体显性高度近视位点的鉴定。
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汉族人群中COL1A1基因与高度近视的关联研究。

An association study of the COL1A1 gene and high myopia in a Han Chinese population.

作者信息

Zhang Dingding, Shi Yi, Gong Bo, He Fei, Lu Fang, Lin He, Wu Zhengzheng, Cheng Jing, Chen Bin, Liao Shihuang, Ma Shi, Hu Jianbin, Yang Zhenglin

机构信息

Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Sichuan, China.

出版信息

Mol Vis. 2011;17:3379-83. Epub 2011 Dec 24.

PMID:22219633
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3247168/
Abstract

PURPOSE

Single nucleotide polymorphisms (SNPs) in the collagen type I (COL1A1) gene have been shown to be significantly associated with high myopia in a Japanese population. This present study was conducted to investigate whether COL1A1 is associated with high myopia in a Han Chinese population.

METHODS

High myopia is defined by a spherical equivalent of less than or equal to -6.00 diopter sphere and an axial length longer than or equal to 26.0 mm in the affected eye. We genotyped rs2075555 and rs2269336 SNPs in COL1A1 in a Ha n Chinese group composed of 697 high myopia patients and 762 normal controls.

RESULTS

Neither of the two SNPs showed significant association with high myopia (p(allelic)=0.252 for rs2075555, and p(allelic)=0.699 for rs2269336).

CONCLUSIONS

Our study revealed that SNPs in COL1A1 are not significantly associated with high myopia in the Han Chinese population.

摘要

目的

在日本人群中,I型胶原蛋白(COL1A1)基因中的单核苷酸多态性(SNP)已被证明与高度近视显著相关。本研究旨在调查COL1A1基因是否与汉族人群中的高度近视相关。

方法

高度近视定义为患眼等效球镜小于或等于-6.00屈光度且眼轴长度大于或等于26.0毫米。我们对由697例高度近视患者和762例正常对照组成的汉族人群中的COL1A1基因rs2075555和rs2269336单核苷酸多态性进行了基因分型。

结果

两个单核苷酸多态性均未显示与高度近视有显著关联(rs2075555的p(等位基因)=0.252,rs2269336的p(等位基因)=0.699)。

结论

我们的研究表明,COL1A1基因中的单核苷酸多态性与汉族人群中的高度近视无显著关联。