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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

ABSTRACT: Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

SUBMITTER: Springelkamp H 

PROVIDER: S-EPMC4199103 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Springelkamp Henriët H   Höhn René R   Mishra Aniket A   Hysi Pirro G PG   Khor Chiea-Chuen CC   Loomis Stephanie J SJ   Bailey Jessica N Cooke JN   Gibson Jane J   Thorleifsson Gudmar G   Janssen Sarah F SF   Luo Xiaoyan X   Ramdas Wishal D WD   Vithana Eranga E   Nongpiur Monisha E ME   Montgomery Grant W GW   Xu Liang L   Mountain Jenny E JE   Gharahkhani Puya P   Lu Yi Y   Amin Najaf N   Karssen Lennart C LC   Sim Kar-Seng KS   van Leeuwen Elisabeth M EM   Iglesias Adriana I AI   Verhoeven Virginie J M VJ   Hauser Michael A MA   Loon Seng-Chee SC   Despriet Dominiek D G DD   Nag Abhishek A   Venturini Cristina C   Sanfilippo Paul G PG   Schillert Arne A   Kang Jae H JH   Landers John J   Jonasson Fridbert F   Cree Angela J AJ   van Koolwijk Leonieke M E LM   Rivadeneira Fernando F   Souzeau Emmanuelle E   Jonsson Vesteinn V   Menon Geeta G   Weinreb Robert N RN   de Jong Paulus T V M PT   Oostra Ben A BA   Uitterlinden André G AG   Hofman Albert A   Ennis Sarah S   Thorsteinsdottir Unnur U   Burdon Kathryn P KP   Spector Timothy D TD   Mirshahi Alireza A   Saw Seang-Mei SM   Vingerling Johannes R JR   Teo Yik-Ying YY   Haines Jonathan L JL   Wolfs Roger C W RC   Lemij Hans G HG   Tai E-Shyong ES   Jansonius Nomdo M NM   Jonas Jost B JB   Cheng Ching-Yu CY   Aung Tin T   Viswanathan Ananth C AC   Klaver Caroline C W CC   Craig Jamie E JE   Macgregor Stuart S   Mackey David A DA   Lotery Andrew J AJ   Stefansson Kari K   Bergen Arthur A B AA   Young Terri L TL   Wiggs Janey L JL   Pfeiffer Norbert N   Wong Tien-Yin TY   Pasquale Louis R LR   Hewitt Alex W AW   van Duijn Cornelia M CM   Hammond Christopher J CJ  

Nature communications 20140922

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-sco  ...[more]

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