Eyes of Africa: The Genetics of Blindness: Study Design and Methodology.
Eyes of Africa: The Genetics of Blindness: Study Design and Methodology.
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DOI：
10.1186/s12886-021-02029-8
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发表时间：
2021-07-09
影响因子：
2
通讯作者：
Ashaye A
中科院分区：
文献类型：
--
作者：
Olawoye O;Chuka-Okosa C;Akpa O;Realini T;Hauser M;Ashaye A
本报告描述了“非洲之眼：失明的遗传学”的设计和方法，这是一项由美国国立卫生研究院的非洲人类遗传与健康（H3Africa）项目资助的合作研究。这是一项病例对照研究，在青光眼患者和对照组中收集了大量表型良好的数据集，用于全基因组关联研究。(GWAS)。还将收集分离孟德尔型早发性青光眼的多重家族进行外显子组测序。在研究的第三个资助年度结束时，共有4500例/对照被招募到研究中。所有这些参与者都进行了适当的表型分析，并收到了这些参与者的血液样本。最近非洲个体POAG的GWAS显示与APBB2位点的全基因组显著关联，这是非洲血统个体所特有的关联。这项研究将增加对非洲人口POAG的现有知识和理解。在线版本包含补充材料，下载地址：10.1186/s12886-021-02029-8。
This report describes the design and methodology of the “Eyes of Africa: The Genetics of Blindness,” a collaborative study funded through the Human Heredity and Health in Africa (H3Africa) program of the National Institute of Health. This is a case control study that is collecting a large well phenotyped data set among glaucoma patients and controls for a genome wide association study. (GWAS). Multiplex families segregating Mendelian forms of early-onset glaucoma will also be collected for exome sequencing. A total of 4500 cases/controls have been recruited into the study at the end of the 3rd funded year of the study. All these participants have been appropriately phenotyped and blood samples have been received from these participants. Recent GWAS of POAG in African individuals demonstrated genome-wide significant association with the APBB2 locus which is an association that is unique to individuals of African ancestry. This study will add to the existing knowledge and understanding of POAG in the African population. The online version contains supplementary material available at 10.1186/s12886-021-02029-8.
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DOI：
10.1126/science.1193032
发表时间：
2010-08-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Genovese G;Friedman DJ;Ross MD;Lecordier L;Uzureau P;Freedman BI;Bowden DW;Langefeld CD;Oleksyk TK;Uscinski Knob AL;Bernhardy AJ;Hicks PJ;Nelson GW;Vanhollebeke B;Winkler CA;Kopp JB;Pays E;Pollak MR
通讯作者：
Pollak MR
影响因子：
4.2
作者：
MARTIN, MJ;SOMMER, A;DIAMOND, EL
通讯作者：
DIAMOND, EL
影响因子：
8.3
作者：
Stewart, Cheryl;Pepper, Michael S.
通讯作者：
Pepper, Michael S.
影响因子：
4.1
作者：
Foster, PJ;Buhrmann, R;Johnson, GJ
通讯作者：
Johnson, GJ
影响因子：
1.1
作者：
Abimiku, Alash'le G.;Croxton, Talishea;Beiswanger, Christine M.
通讯作者：
Beiswanger, Christine M.