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15号染色体14区和25区与汉族人群高度近视的关联研究。

Association study of 15q14 and 15q25 with high myopia in the Han Chinese population.

作者信息

Qiang Yu, Li Wenjin, Wang Qingzhong, He Kuanjun, Li Zhiqiang, Chen Jianhua, Song Zhijian, Qu Jia, Zhou Xiangtian, Qin Shengying, Shen Jiawei, Wen Zujia, Ji Jue, Shi Yongyong

机构信息

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, P,R China.

出版信息

BMC Genet. 2014 Apr 27;15:51. doi: 10.1186/1471-2156-15-51.

DOI:10.1186/1471-2156-15-51
PMID:24767175
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4014749/
Abstract

BACKGROUND

Refractive errors and high myopia are the most common ocular disorders, and both of them are leading causes of blindness in the world. Recently, genetic association studies in European and Japanese population identified that common genetic variations located in 15q14 and 15q25 were associated with high myopia. To validate whether the same variations conferred risk to high myopia in the Han Chinese population, we genotyped 1,461 individuals (940 controls and 521 cases samples) recruited of Han Chinese origin.

RESULT

We found rs8027411 in 15q25 (P = 0.012 after correction, OR = 0.78) was significantly associated with high myopia but rs634990 in 15q14 (P = 0.54 after correction), OR = 0.88) was not.

CONCLUSIONS

Our findings supported that 15q25 is a susceptibility locus for high myopia, and gene RASGRF1 was possible to play a role in the pathology of high myopia.

摘要

背景

屈光不正和高度近视是最常见的眼部疾病,二者均为全球失明的主要原因。最近,欧洲和日本人群的基因关联研究表明,位于15q14和15q25的常见基因变异与高度近视有关。为验证这些相同变异是否会使汉族人群患高度近视的风险增加,我们对招募的1461名汉族个体(940名对照和521例病例样本)进行了基因分型。

结果

我们发现15q25中的rs8027411(校正后P = 0.012,比值比[OR]= 0.78)与高度近视显著相关,但15q14中的rs634990(校正后P = 0.54,OR = 0.88)则不然。

结论

我们的研究结果支持15q25是高度近视的一个易感位点,且基因RASGRF1可能在高度近视的病理过程中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/4014749/42ff6cdcaca0/1471-2156-15-51-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/4014749/42ff6cdcaca0/1471-2156-15-51-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/4014749/42ff6cdcaca0/1471-2156-15-51-1.jpg

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Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.
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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.
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Association of 15q14 and 15q25 with high myopia in Japanese.
5p15.2和15q14与中国土家族和苗族人群高度近视的关联
BMC Ophthalmol. 2020 Jun 26;20(1):255. doi: 10.1186/s12886-020-01516-8.
4
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Mol Vis. 2019 Oct 14;25:603-609. eCollection 2019.
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Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.高度近视人群中与近视性黄斑变性相关的遗传变异:CREAM 联盟。
PLoS One. 2019 Aug 15;14(8):e0220143. doi: 10.1371/journal.pone.0220143. eCollection 2019.
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