文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

全基因组关联研究在亚洲人群中证实了 ATOH7 和 TGFBR3 的参与,并进一步确定 CARD10 为影响视盘面积的新基因座。

Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.

机构信息

Infectious Diseases, Genome Institute of Singapore, A*STAR, Singapore.

出版信息

Hum Mol Genet. 2011 May 1;20(9):1864-72. doi: 10.1093/hmg/ddr060. Epub 2011 Feb 9.


DOI:10.1093/hmg/ddr060
PMID:21307088
Abstract

Damage to the optic nerve (e.g. from glaucoma) has an adverse and often irreversible impact on vision. Earlier studies have suggested that the size of the optic nerve head could be governed by hereditary factors. We conducted a genome-wide association study (GWAS) on 4445 Singaporean individuals (n = 2132 of Indian and n = 2313 of Malay ancestry, respectively), with replication in Rotterdam, the Netherlands (n = 9326 individuals of Caucasian ancestry) using the most widely reported parameter for optic disc traits, the optic disc area. We identified a novel locus on chromosome 22q13.1, CARD10, which strongly associates with optic disc area in both Singaporean cohorts as well as in the Rotterdam Study (RS; rs9607469, per-allele change in optic disc area = 0.051 mm(2); P(meta) = 2.73×10(-12)) and confirmed the association between CDC7/TGFBR3 (lead single nucleotide polymorphism (SNP) rs1192415, P(meta) = 7.57×10(-17)) and ATOH7 (lead SNP rs7916697, P(meta) = 2.00 × 10(-15)) and optic disc area in Asians. This is the first Asian-based GWAS on optic disc area, identifying a novel locus for the optic disc area, but also confirming the results found in Caucasian persons suggesting that there are general genetic determinants applicable to the size of the optic disc across different ethnicities.

摘要

视神经损伤(例如青光眼)会对视力产生不良且往往是不可逆转的影响。早期的研究表明,视神经头的大小可能受遗传因素的控制。我们对 4445 名新加坡人(分别为印度裔 2132 名和马来裔 2313 名)进行了全基因组关联研究(GWAS),使用最广泛报道的视盘特征参数(视盘面积),在荷兰鹿特丹(n = 9326 名白种人)进行了复制。我们在 22q13.1 染色体上确定了一个新的位置,CARD10,它在新加坡两个队列以及鹿特丹研究(RS)中与视盘面积强烈相关(rs9607469,视盘面积每等位基因变化=0.051mm2;P(meta)=2.73×10(-12)),并证实了 CDC7/TGFBR3(先导单核苷酸多态性(SNP)rs1192415,P(meta)=7.57×10(-17))和 ATOH7(先导 SNP rs7916697,P(meta)=2.00×10(-15))与亚洲人的视盘面积之间的关联。这是第一项基于亚洲人的视盘面积全基因组关联研究,确定了视盘面积的一个新位置,但也证实了在白种人中发现的结果,表明存在适用于不同种族视盘大小的一般遗传决定因素。

相似文献

[1]
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.

Hum Mol Genet. 2011-2-9

[2]
Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.

PLoS One. 2015-3-23

[3]
A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.

Invest Ophthalmol Vis Sci. 2017-1-1

[4]
Common genetic variants associated with open-angle glaucoma.

Hum Mol Genet. 2011-3-22

[5]
A genome-wide association study of optic disc parameters.

PLoS Genet. 2010-6-10

[6]
Association of Glaucoma Risk Genes with Retinal Nerve Fiber Layer in a Multi-ethnic Asian Population: The Singapore Epidemiology of Eye Diseases Study.

Invest Ophthalmol Vis Sci. 2020-8-3

[7]
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Hum Mol Genet. 2010-4-15

[8]
Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population.

J Med Genet. 2011-11-5

[9]
Clarifying the role of ATOH7 in glaucoma endophenotypes.

Br J Ophthalmol. 2014-1-23

[10]
A common variant near TGFBR3 is associated with primary open angle glaucoma.

Hum Mol Genet. 2015-7-1

引用本文的文献

[1]
Mechanobiological responses of astrocytes in optic nerve head due to biaxial stretch.

BMC Ophthalmol. 2022-9-16

[2]
Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

J Clin Med. 2022-4-28

[3]
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks.

Hum Genet. 2022-10

[4]
Atoh7-independent specification of retinal ganglion cell identity.

Sci Adv. 2021-3-12

[5]
Analyzing a putative enhancer of optic disc morphology.

BMC Genet. 2020-10-22

[6]
Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells.

J Cell Mol Med. 2020-11

[7]
Betaglycan Gene () Polymorphism Is Associated with Increased Risk of Endometrial Cancer.

J Clin Med. 2020-9-24

[8]
Molecular Genetics and Functional Analysis Implicate Involvement in POAG Pathogenesis.

Cells. 2020-8-21

[9]
The remote enhancer provides transcriptional robustness during retinal ganglion cell development.

Proc Natl Acad Sci U S A. 2020-8-17

[10]
Transcriptome analysis of the zebrafish Mutant, , highlights Atoh7-dependent genetic networks with potential implications for human eye diseases.

FASEB Bioadv. 2020-6-27

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索