Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

Waksmunski Andrea R.; Grunin Michelle; Kinzy Tyler G.; Igo Robert P. Jr.; Haines Jonathan L.; Bailey Jessica N. Cooke; Fritsche Lars G.; Igl Wilmar; Grassmann Felix; Sengupta Sebanti; Bragg-Gresham Jennifer L.; Burdon Kathryn P.; Hebbring Scott J.; Wen Cindy; Gorski Mathias; Kim Ivana K.; Cho David; Zack Donald; Souied Eric; Scholl Hendrik P. N.; Bala Elisa; Lee Kristine E.; Hunter David J.; Sardell Rebecca J.; Mitchell Paul; Merriam Joanna E.; Cipriani Valentina; Hoffman Joshua D.; Schick Tina; Lechanteur Yara T. E.; Guymer Robyn H.; Johnson Matthew P.; Jiang Yingda; Stanton Chloe M.; Buitendijk Gabrielle H. S.; Zhan Xiaowei; Kwong Alan M.; Boleda Alexis; Brooks Matthew; Gieser Linn; Ratnapriya Rinki; Branham Kari E.; Foerster Johanna R.; Heckenlively John R.; Othman Mohammad I; Vote Brendan J.; Liang Helena Hai; Souzeau Emmanuelle; McAllister Ian L.; Isaacs Timothy; Hall Janette; Lake Stewart; Mackey David A.; Constable Ian J.; Craig Jamie E.; Kitchner Terrie E.; Yang Zhenglin; Su Zhiguang; Luo Hongrong; Chen Daniel; Ouyang Hong; Flagg Ken; Lin Danni; Mao Guanping; Ferreyra Henry; Stark Klaus; von Strachwitz Claudia N.; Wolf Armin; Brandl Caroline; Rudolph Guenther; Olden Matthias; Morrison Margaux A.; Morgan Denise J.; Schu Matthew; Ahn Jeeyun; Silvestri Giuliana; Tsironi Evangelia E.; Park Kyu Hyung; Farrer Lindsay A.; Orlin Anton; Brucker Alexander; Li Mingyao; Curcio Christine A.; Mohand-Said Saddek; Sahel Jose-Alain; Audo Isabelle; Benchaboune Mustapha; Cree Angela J.; Rennie Christina A.; Goverdhan Srinivas V; Hagbi-Levi Shira; Campochiaro Peter; Katsanis Nicholas; Holz Frank G.; Blond Frederic; Blanche Helene; Deleuze Jean-Francois; Truitt Barbara; Peachey Neal S.; Meuer Stacy M.; Myers Chelsea E.; Moore Emily L.; Klein Ronald; Hauser Michael A.; Postel Eric A.; Courtenay Monique D.; Schwartz Stephen G.; Kovach Jaclyn L.; Scott William K.; Liew Gerald; Tan Ava G.; Gopinath Bamini; Merriam John C.; Smith R. Theodore; Khan Jane C.; Shahid Humma; Moore Anthony T.; McGrath J. Allie; Laux Renee; Brantley Milam A. Jr.; Agarwal Anita; Ersoy Lebriz; Caramoy Albert; Langmann Thomas; Saksens Nicole T. M.; de Jong Eiko K.; Hoyng Carel B.; Cain Melinda S.; Richardson Andrea J.; Martin Tammy M.; Blangero John; Weeks Daniel E.; Dhillon Bal; van Duijn Cornelia M.; Doheny Kimberly F.; Romm Jane; Klaver Caroline C. W.; Hayward Caroline; Gorin Michael B.; Klein Michael L.; Baird Paul N.; den Hollander Anneke I; Fauser Sascha; Yates John R. W.; Allikmets Rando; Wang Jie Jin; Schaumberg Debra A.; Klein Barbara E. K.; Hagstrom Stephanie A.; Chowers Itay; Lotery Andrew J.; Leveillard Thierry; Zhang Kang; Brilliant Murray H.; Hewitt Alex W.; Swaroop Anand; Chew Emily Y.; Pericak-Vance Margaret A.; DeAngelis Margaret; Stambolian Dwight; Iyengar Sudha K.; Weber Bernhard H. F.; Abecasis Goncalo R.; Heid Iris M.

首页> 外文期刊>Investigative ophthalmology & visual science >Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

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Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

机译：将基因组和功能数据的途径分析将PLCG2鉴定为年龄相关性黄斑变性的候选基因

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PURPOSE. Age-related macular degeneration (AMD) is the worldwide leading cause of blindness among the elderly. Although genome-wide association studies (GWAS) have identified AMD risk variants, their roles in disease etiology are not well-characterized, and they only explain a portion of AMD heritability.

机译：目的。年龄相关的黄斑变性（AMD）是全球老年人失明的主要原因。尽管基因组关联研究（GWAs）已经确定了AMD风险变体，但它们在疾病病因中的作用不是很好的特征，并且它们仅解释了AMD遗传性的一部分。

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《Investigative ophthalmology & visual science》 |2019年第12期|共11页
作者
Waksmunski Andrea R.; Grunin Michelle; Kinzy Tyler G.; Igo Robert P. Jr.; Haines Jonathan L.; Bailey Jessica N. Cooke; Fritsche Lars G.; Igl Wilmar; Grassmann Felix; Sengupta Sebanti; Bragg-Gresham Jennifer L.; Burdon Kathryn P.; Hebbring Scott J.; Wen Cindy; Gorski Mathias; Kim Ivana K.; Cho David; Zack Donald; Souied Eric; Scholl Hendrik P. N.; Bala Elisa; Lee Kristine E.; Hunter David J.; Sardell Rebecca J.; Mitchell Paul; Merriam Joanna E.; Cipriani Valentina; Hoffman Joshua D.; Schick Tina; Lechanteur Yara T. E.; Guymer Robyn H.; Johnson Matthew P.; Jiang Yingda; Stanton Chloe M.; Buitendijk Gabrielle H. S.; Zhan Xiaowei; Kwong Alan M.; Boleda Alexis; Brooks Matthew; Gieser Linn; Ratnapriya Rinki; Branham Kari E.; Foerster Johanna R.; Heckenlively John R.; Othman Mohammad I; Vote Brendan J.; Liang Helena Hai; Souzeau Emmanuelle; McAllister Ian L.; Isaacs Timothy; Hall Janette; Lake Stewart; Mackey David A.; Constable Ian J.; Craig Jamie E.; Kitchner Terrie E.; Yang Zhenglin; Su Zhiguang; Luo Hongrong; Chen Daniel; Ouyang Hong; Flagg Ken; Lin Danni; Mao Guanping; Ferreyra Henry; Stark Klaus; von Strachwitz Claudia N.; Wolf Armin; Brandl Caroline; Rudolph Guenther; Olden Matthias; Morrison Margaux A.; Morgan Denise J.; Schu Matthew; Ahn Jeeyun; Silvestri Giuliana; Tsironi Evangelia E.; Park Kyu Hyung; Farrer Lindsay A.; Orlin Anton; Brucker Alexander; Li Mingyao; Curcio Christine A.; Mohand-Said Saddek; Sahel Jose-Alain; Audo Isabelle; Benchaboune Mustapha; Cree Angela J.; Rennie Christina A.; Goverdhan Srinivas V; Hagbi-Levi Shira; Campochiaro Peter; Katsanis Nicholas; Holz Frank G.; Blond Frederic; Blanche Helene; Deleuze Jean-Francois; Truitt Barbara; Peachey Neal S.; Meuer Stacy M.; Myers Chelsea E.; Moore Emily L.; Klein Ronald; Hauser Michael A.; Postel Eric A.; Courtenay Monique D.; Schwartz Stephen G.; Kovach Jaclyn L.; Scott William K.; Liew Gerald; Tan Ava G.; Gopinath Bamini; Merriam John C.; Smith R. Theodore; Khan Jane C.; Shahid Humma; Moore Anthony T.; McGrath J. Allie; Laux Renee; Brantley Milam A. Jr.; Agarwal Anita; Ersoy Lebriz; Caramoy Albert; Langmann Thomas; Saksens Nicole T. M.; de Jong Eiko K.; Hoyng Carel B.; Cain Melinda S.; Richardson Andrea J.; Martin Tammy M.; Blangero John; Weeks Daniel E.; Dhillon Bal; van Duijn Cornelia M.; Doheny Kimberly F.; Romm Jane; Klaver Caroline C. W.; Hayward Caroline; Gorin Michael B.; Klein Michael L.; Baird Paul N.; den Hollander Anneke I; Fauser Sascha; Yates John R. W.; Allikmets Rando; Wang Jie Jin; Schaumberg Debra A.; Klein Barbara E. K.; Hagstrom Stephanie A.; Chowers Itay; Lotery Andrew J.; Leveillard Thierry; Zhang Kang; Brilliant Murray H.; Hewitt Alex W.; Swaroop Anand; Chew Emily Y.; Pericak-Vance Margaret A.; DeAngelis Margaret; Stambolian Dwight; Iyengar Sudha K.; Weber Bernhard H. F.; Abecasis Goncalo R.; Heid Iris M.;
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正文语种 eng
中图分类眼科学;
关键词
age-related macular degeneration; pathway analysis; genome-wide association study; database; phospholipase C gamma 2;

机译：年龄相关的黄斑变性;途径分析;基因组 - 宽协会研究;数据库;磷脂酶Cγ2;

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专利

1. Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration [J] . Waksmunski Andrea R., Grunin Michelle, Kinzy Tyler G., Investigative ophthalmology & visual science . 2019,第12期

机译：将基因组和功能数据的途径分析将PLCG2鉴定为年龄相关性黄斑变性的候选基因
2. Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration [J] . Journal of human genetics . 2020,第8期

机译：基因组 - 宽的Meta分析识别与年龄相关性黄斑变性相关的新型基因座
3. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) [J] . Benjamin M. Neale, Jesen Fagerness, Robyn Reynolds, Proceedings of the National Academy of Sciences of the United States of America . 2010,第16期

机译：全基因组关联的老年性黄斑变性研究确定了肝脂肪酶基因（LIPC）的作用
4. Image Classification Using Histograms and Time Series Analysis: A Study of Age-Related Macular Degeneration Screening in Retinal Image Data [C] . Mohd Hanafi Ahmad Hijazi, Prans Coenen, Yalin Zheng Advances in data mining : Applications and theoretical aspects . 2010

机译：使用直方图和时间序列分析进行图像分类：视网膜图像数据中与年龄相关的黄斑变性筛查的研究
5. Investigation of the role of the TLR3 innate immunity pathway in the pathogenesis of age-related macular degeneration. [D] . Patel, Amit Kirit. 2014

机译：TLR3先天免疫途径在与年龄有关的黄斑变性的发病机理中的作用的研究。
6. Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration [O] . Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, -1

机译：整合了全基因组和功能数据的途径分析将PLCG2鉴定为与年龄相关的黄斑变性的候选基因
7. Integrative single-cell and bulk RNA-seq analysis in human retina identified cell type-specific composition and gene expression changes for age-related macular degeneration [O] . Yafei Lyu, Randy Zauhar, Nico Dana, 2019

机译：人视网膜中的整合单细胞和批量RNA-SEQ分析鉴定了细胞类型特异性组成和年龄相关性黄斑变性的细胞表达变化

Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

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