Literature DB >> 22828004

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables.

Janey L Wiggs1, Michael A Hauser, Wael Abdrabou, Robert Rand Allingham, Donald L Budenz, Elizabeth Delbono, David S Friedman, Jae H Kang, Douglas Gaasterland, Terry Gaasterland, Richard K Lee, Paul R Lichter, Stephanie Loomis, Yutao Liu, Cathy McCarty, Felipe A Medeiros, Sayoko E Moroi, Lana M Olson, Anthony Realini, Julia E Richards, Frank W Rozsa, Joel S Schuman, Kuldev Singh, Joshua D Stein, Douglas Vollrath, Robert N Weinreb, Gadi Wollstein, Brian L Yaspan, Sachiko Yoneyama, Don Zack, Kang Zhang, Margaret Pericak-Vance, Louis R Pasquale, Jonathan L Haines.   

Abstract

Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide association studies (GWAS) have successfully identified genes contributing to complex traits such as POAG however, such studies frequently require very large sample sizes, and thus, collaborations and consortia have been of critical importance for the GWAS approach. In this report we describe the formation of the NEIGHBOR consortium, the harmonized case control definitions used for a POAG GWAS, the clinical features of the cases and controls, and the rationale for the GWAS study design.

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Year:  2013        PMID: 22828004      PMCID: PMC3485429          DOI: 10.1097/IJG.0b013e31824d4fd8

Source DB:  PubMed          Journal:  J Glaucoma        ISSN: 1057-0829            Impact factor:   2.503


  56 in total

1.  Genetic architecture of open angle glaucoma and related determinants.

Authors:  Wishal D Ramdas; Najaf Amin; Leonieke M E van Koolwijk; A Cecile J W Janssens; Ayse Demirkan; Paulus T V M de Jong; Yurii S Aulchenko; Roger C W Wolfs; Albert Hofman; Fernando Rivadeneira; Andre G Uitterlinden; Ben A Oostra; Hans G Lemij; Caroline C W Klaver; Johannes R Vingerling; Nomdo M Jansonius; Cornelia M van Duijn
Journal:  J Med Genet       Date:  2010-11-07       Impact factor: 6.318

2.  Prospective study of type 2 diabetes mellitus and risk of primary open-angle glaucoma in women.

Authors:  Louis R Pasquale; Jae Hee Kang; JoAnn E Manson; Walter C Willett; Bernard A Rosner; Susan E Hankinson
Journal:  Ophthalmology       Date:  2006-06-06       Impact factor: 12.079

3.  Optimal designs for two-stage genome-wide association studies.

Authors:  Andrew D Skol; Laura J Scott; Gonçalo R Abecasis; Michael Boehnke
Journal:  Genet Epidemiol       Date:  2007-11       Impact factor: 2.135

Review 4.  Glaucoma: genes, phenotypes, and new directions for therapy.

Authors:  Bao Jian Fan; Janey L Wiggs
Journal:  J Clin Invest       Date:  2010-09-01       Impact factor: 14.808

5.  Complement factor H polymorphism and age-related macular degeneration.

Authors:  Albert O Edwards; Robert Ritter; Kenneth J Abel; Alisa Manning; Carolien Panhuysen; Lindsay A Farrer
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

6.  Complement factor H variant increases the risk of age-related macular degeneration.

Authors:  Jonathan L Haines; Michael A Hauser; Silke Schmidt; William K Scott; Lana M Olson; Paul Gallins; Kylee L Spencer; Shu Ying Kwan; Maher Noureddine; John R Gilbert; Nathalie Schnetz-Boutaud; Anita Agarwal; Eric A Postel; Margaret A Pericak-Vance
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

7.  A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

Authors:  Abbas M Solouki; Virginie J M Verhoeven; Cornelia M van Duijn; Annemieke J M H Verkerk; M Kamran Ikram; Pirro G Hysi; Dominiek D G Despriet; Leonieke M van Koolwijk; Lintje Ho; Wishal D Ramdas; Monika Czudowska; Robert W A M Kuijpers; Najaf Amin; Maksim Struchalin; Yurii S Aulchenko; Gabriel van Rij; Frans C C Riemslag; Terri L Young; David A Mackey; Timothy D Spector; Theo G M F Gorgels; Jacqueline J M Willemse-Assink; Aaron Isaacs; Rogier Kramer; Sigrid M A Swagemakers; Arthur A B Bergen; Andy A L J van Oosterhout; Ben A Oostra; Fernando Rivadeneira; André G Uitterlinden; Albert Hofman; Paulus T V M de Jong; Christopher J Hammond; Johannes R Vingerling; Caroline C W Klaver
Journal:  Nat Genet       Date:  2010-09-12       Impact factor: 38.330

8.  New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

Authors:  Veronique Vitart; Goran Bencić; Caroline Hayward; Jelena Skunca Herman; Jennifer Huffman; Susan Campbell; Kajo Bućan; Pau Navarro; Grgo Gunjaca; Josipa Marin; Lina Zgaga; Ivana Kolcić; Ozren Polasek; Mirna Kirin; Nicholas D Hastie; James F Wilson; Igor Rudan; Harry Campbell; Zoran Vatavuk; Brian Fleck; Alan Wright
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150

9.  A genome-wide association study of optic disc parameters.

Authors:  Wishal D Ramdas; Leonieke M E van Koolwijk; M Kamran Ikram; Nomdo M Jansonius; Paulus T V M de Jong; Arthur A B Bergen; Aaron Isaacs; Najaf Amin; Yurii S Aulchenko; Roger C W Wolfs; Albert Hofman; Fernando Rivadeneira; Ben A Oostra; Andre G Uitterlinden; Pirro Hysi; Christopher J Hammond; Hans G Lemij; Johannes R Vingerling; Caroline C W Klaver; Cornelia M van Duijn
Journal:  PLoS Genet       Date:  2010-06-10       Impact factor: 5.917

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

Authors:  Stuart Macgregor; Alex W Hewitt; Pirro G Hysi; Jonathan B Ruddle; Sarah E Medland; Anjali K Henders; Scott D Gordon; Toby Andrew; Brian McEvoy; Paul G Sanfilippo; Francis Carbonaro; Vikas Tah; Yi Ju Li; Sonya L Bennett; Jamie E Craig; Grant W Montgomery; Khanh-Nhat Tran-Viet; Nadean L Brown; Timothy D Spector; Nicholas G Martin; Terri L Young; Christopher J Hammond; David A Mackey
Journal:  Hum Mol Genet       Date:  2010-04-15       Impact factor: 6.150

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  37 in total

1.  Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Authors:  Megan Ulmer; Jun Li; Brian L Yaspan; Ayse Bilge Ozel; Julia E Richards; Sayoko E Moroi; Felicia Hawthorne; Donald L Budenz; David S Friedman; Douglas Gaasterland; Jonathan Haines; Jae H Kang; Richard Lee; Paul Lichter; Yutao Liu; Louis R Pasquale; Margaret Pericak-Vance; Anthony Realini; Joel S Schuman; Kuldev Singh; Douglas Vollrath; Robert Weinreb; Gadi Wollstein; Donald J Zack; Kang Zhang; Terri Young; R Rand Allingham; Janey L Wiggs; Allison Ashley-Koch; Michael A Hauser
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-07-03       Impact factor: 4.799

Review 2.  Discovery of Molecular Therapeutics for Glaucoma: Challenges, Successes, and Promising Directions.

Authors:  Rebecca K Donegan; Raquel L Lieberman
Journal:  J Med Chem       Date:  2015-09-25       Impact factor: 7.446

3.  Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.

Authors:  Fei Chen; Alison P Klein; Barbara E K Klein; Kristine E Lee; Barbara Truitt; Ronald Klein; Sudha K Iyengar; Priya Duggal
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-12-18       Impact factor: 4.799

4.  Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma.

Authors:  J H Kang; S J Loomis; B L Yaspan; J C Bailey; R N Weinreb; R K Lee; P R Lichter; D L Budenz; Y Liu; T Realini; D Gaasterland; T Gaasterland; D S Friedman; C A McCarty; S E Moroi; L Olson; J S Schuman; K Singh; D Vollrath; G Wollstein; D J Zack; M Brilliant; A J Sit; W G Christen; J Fingert; J P Forman; E S Buys; P Kraft; K Zhang; R R Allingham; M A Pericak-Vance; J E Richards; M A Hauser; J L Haines; J L Wiggs; L R Pasquale
Journal:  Eye (Lond)       Date:  2014-03-07       Impact factor: 3.775

Review 5.  Common and rare genetic risk factors for glaucoma.

Authors:  Ryan Wang; Janey L Wiggs
Journal:  Cold Spring Harb Perspect Med       Date:  2014-09-18       Impact factor: 6.915

6.  The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.

Authors:  Linda M Zangwill; Radha Ayyagari; Jeffrey M Liebmann; Christopher A Girkin; Robert Feldman; Harvey Dubiner; Keri A Dirkes; Matthew Holmann; Eunice Williams-Steppe; Naama Hammel; Luke J Saunders; Suzanne Vega; Kevin Sandow; Kathryn Roll; Rigby Slight; Daniel Auerbach; Brian C Samuels; Joseph F Panarelli; John P Mitchell; Lama A Al-Aswad; Sung Chul Park; Celso Tello; Jeremy Cotliar; Rajendra Bansal; Paul A Sidoti; George A Cioffi; Dana Blumberg; Robert Ritch; Nicholas P Bell; Lauren S Blieden; Garvin Davis; Felipe A Medeiros; Maggie C Y Ng; Swapan K Das; Nicholette D Palmer; Jasmin Divers; Carl D Langefeld; Barry I Freedman; Donald W Bowden; Mark A Christopher; Yii-der I Chen; Xiuqing Guo; Kent D Taylor; Jerome I Rotter; Robert N Weinreb
Journal:  Ophthalmology       Date:  2018-02-01       Impact factor: 12.079

Review 7.  Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine.

Authors:  M Elizabeth Fini; Stephen G Schwartz; Xiaoyi Gao; Shinwu Jeong; Nitin Patel; Tatsuo Itakura; Marianne O Price; Francis W Price; Rohit Varma; W Daniel Stamer
Journal:  Prog Retin Eye Res       Date:  2016-09-22       Impact factor: 21.198

8.  Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Authors:  Stephanie J Loomis; Jae H Kang; Robert N Weinreb; Brian L Yaspan; Jessica N Cooke Bailey; Douglas Gaasterland; Terry Gaasterland; Richard K Lee; Paul R Lichter; Donald L Budenz; Yutao Liu; Tony Realini; David S Friedman; Catherine A McCarty; Sayoko E Moroi; Lana Olson; Joel S Schuman; Kuldev Singh; Douglas Vollrath; Gadi Wollstein; Donald J Zack; Murray Brilliant; Arthur J Sit; William G Christen; John Fingert; Peter Kraft; Kang Zhang; R Rand Allingham; Margaret A Pericak-Vance; Julia E Richards; Michael A Hauser; Jonathan L Haines; Louis R Pasquale; Janey L Wiggs
Journal:  Ophthalmology       Date:  2013-10-25       Impact factor: 12.079

9.  Quality Control for the Illumina HumanExome BeadChip.

Authors:  Robert P Igo; Jessica N Cooke Bailey; Jane Romm; Jonathan L Haines; Janey L Wiggs
Journal:  Curr Protoc Hum Genet       Date:  2016-07-01

10.  Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

Authors:  Jessica N Cooke Bailey; Brian L Yaspan; Louis R Pasquale; Michael A Hauser; Jae H Kang; Stephanie J Loomis; Murray Brilliant; Donald L Budenz; William G Christen; John Fingert; Douglas Gaasterland; Terry Gaasterland; Peter Kraft; Richard K Lee; Paul R Lichter; Yutao Liu; Catherine A McCarty; Sayoko E Moroi; Julia E Richards; Tony Realini; Joel S Schuman; William K Scott; Kuldev Singh; Arthur J Sit; Douglas Vollrath; Gadi Wollstein; Donald J Zack; Kang Zhang; Margaret A Pericak-Vance; R Rand Allingham; Robert N Weinreb; Jonathan L Haines; Janey L Wiggs
Journal:  Hum Genet       Date:  2014-07-19       Impact factor: 4.132

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