Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
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DOI：
10.1167/iovs.63.8.17
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发表时间：
2022-07-08
影响因子：
4.4
通讯作者：
中科院分区：
文献类型：
--
作者：
本研究的目的是在阿米什研究人群中确定视网膜特征（包括玻璃疣）的遗传风险位点，并将这些风险位点与已知的年龄相关性黄斑变性（AMD）风险位点进行比较。参与者是从俄亥俄州、印第安纳州和宾夕法尼亚州的阿米什人社区招募的。每个参与者都接受了基本的健康史，眼科检查和基因分型。全基因组关联分析（GWAS）进行了三个视网膜性状的存在和数量：地图状萎缩，玻璃疣面积和玻璃疣体积。这些发现与之前主要是欧洲血统个体的大型GWAS的结果进行了比较。此外，AMD的遗传风险评分用于预测视网膜性状的存在和数量。经过质量控制后，1074名参与者被纳入分析。六个单核苷酸多态性（SNP）符合全基因组显著性标准，48个SNP在三个视网膜性状中呈显著相关。显著的SNP与AMD的已知风险SNP不高度相关。AMD的遗传风险评分提供了视网膜特征的显著预测价值。我们在一项中西部阿米什研究人群中发现了AMD潜在的新的遗传风险位点。此外，我们确定AMD和玻璃疣的遗传风险之间存在明确的联系。进一步的研究，包括纵向数据收集，可能会提高我们的能力，以确定这种联系，并提高对玻璃疣发展的生物风险因素的理解。
The purpose of this study was to identify genetic risk loci for retinal traits, including drusen, in an Amish study population and compare these risk loci to known risk loci of age-related macular degeneration (AMD). Participants were recruited from Amish communities in Ohio, Indiana, and Pennsylvania. Each participant underwent a basic health history, ophthalmologic examination, and genotyping. A genomewide association analysis (GWAS) was conducted for the presence and quantity of each of three retinal traits: geographic atrophy, drusen area, and drusen volume. The findings were compared to results from a prior large GWAS of predominantly European-ancestry individuals. Further, a genetic risk score for AMD was used to predict the presence and quantity of the retinal traits. After quality control, 1074 participants were included in analyses. Six single nucleotide polymorphisms (SNPs) met criteria for genomewide significance and 48 were suggestively associated across three retinal traits. The significant SNPs were not highly correlated with known risk SNPs for AMD. A genetic risk score for AMD provided significant predictive value of the retinal traits. We identified potential novel genetic risk loci for AMD in a midwestern Amish study population. Additionally, we determined that there is a clear link between the genetic risk of AMD and drusen. Further study, including longitudinal data collection, may improve our ability to define this connection and improve understanding of the biological risk factors underlying drusen development.
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影响因子：
5.8
作者：
Gogarten, Stephanie M.;Sofer, Tamar;Conomos, Matthew P.
通讯作者：
Conomos, Matthew P.
DOI：
10.1073/pnas.0501536102
发表时间：
2005-05-17
影响因子：
11.1
作者：
Hageman, GS;Anderson, DH;Allikmets, R
通讯作者：
Allikmets, R
影响因子：
--
作者：
Kassoff, A;Kassoff, J;Chew, EY
通讯作者：
Chew, EY
影响因子：
4.4
作者：
Hoffman, Joshua D.;Bailey, Jessica N. Cooke;Haines, Jonathan L.
通讯作者：
Haines, Jonathan L.
影响因子：
4.7
作者：
Chen, Alyce A.;Marsit, Carmen J.;Kelsey, Karl T.
通讯作者：
Kelsey, Karl T.