Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.

Black or African American / genetics Aged Case-Control Studies Cross-Sectional Studies Female Gene Frequency Genetic Predisposition to Disease Genome-Wide Association Study Genotype Glaucoma, Open-Angle / diagnosis Humans Intraocular Pressure Male Middle Aged Phosphopyruvate Hydratase / genetics Polymorphism, Single Nucleotide ROC Curve

Journal

Ophthalmology
ISSN: 1549-4713
Titre abrégé: Ophthalmology
Pays: United States
ID NLM: 7802443

Informations de publication

Date de publication:
01 2019
Historique:
received: 14 02 2018
revised: 04 10 2018
accepted: 10 10 2018
pubmed: 24 10 2018
medline: 19 10 2019
entrez: 24 10 2018
Statut: ppublish

Résumé

To find genetic contributions to glaucoma in African Americans. Cross-sectional, case-control study. One thousand eight hundred seventy-five primary open-angle glaucoma (POAG) patients and 1709 controls, self-identified as being of African descent (AD), from the African Descent and Glaucoma Evaluation Study (ADAGES) III and Wake Forest School of Medicine. MegaChip genotypes were imputed to Thousand Genomes data. Association of single nucleotide polymorphisms (SNPs) with POAG and advanced POAG was tested by linear mixed model correcting for relatedness and population stratification. Genetic risk scores were tested by receiver operator characteristic curves (ROC-AUCs). Primary open-angle glaucoma defined by visual field loss without other nonocular conditions (n = 1875). Advanced POAG was defined by age-based mean deviation of visual field (n = 946). Eighteen million two hundred eighty-one thousand nine hundred twenty SNPs met imputation quality of r A novel association with advanced POAG in the EN04 locus was identified putatively in persons of AD. In addition to this finding, this genome-wide association study in POAG patients of AD contributes to POAG genetics by identification of novel signals in prior loci (9p21), as well as advancing the fine mapping of regions because of shorter average LD (FNDC3B). Although not useful without confirmation and clinical trials, the use of genetic risk scores demonstrated that considerable AD-specific genetic information remains in these data.

Identifiants

DOI: 10.1016/j.ophtha.2018.10.031 PMID: 30352225 PMC: PMC6309605
pubmed: 30352225
pii: S0161-6420(18)30442-1
doi: 10.1016/j.ophtha.2018.10.031
pmc: PMC6309605
mid: NIHMS1510203
pii:
doi:

Substances chimiques

Phosphopyruvate Hydratase EC 4.2.1.11

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

38-48

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK070941
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY011008
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK105556
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY023704
Pays : United States
Organisme : NEI NIH HHS
ID : P30 EY022589
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK087914
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY021818
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI056266
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK053591
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001881
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY019869
Pays : United States
Organisme : NEI NIH HHS
ID : R21 EY029605
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK063491
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK066358
Pays : United States

Informations de copyright

Copyright © 2018 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Références

Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4528-4535
pubmed: 27537254
Clin Exp Ophthalmol. 2014 Jan-Feb;42(1):25-32
pubmed: 24112133
N Engl J Med. 2007 Aug 2;357(5):443-53
pubmed: 17634449
Eur J Hum Genet. 2016 Aug;24(8):1175-80
pubmed: 27189021
Science. 2007 Jun 1;316(5829):1331-6
pubmed: 17463246
Cold Spring Harb Perspect Med. 2014 Sep 18;4(12):a017244
pubmed: 25237143
Hum Mol Genet. 2011 Jun 15;20(12):2464-71
pubmed: 21427129
Genome Res. 2009 Sep;19(9):1655-64
pubmed: 19648217
Am J Ophthalmol. 2015 Apr;159(4):777-87
pubmed: 25597839
Nat Genet. 2016 Feb;48(2):189-94
pubmed: 26752265
Curr Cardiol Rep. 2014 Jul;16(7):502
pubmed: 24893939
Circulation. 2017 Apr 4;135(14):1311-1320
pubmed: 27793994
Hum Mol Genet. 2012 Jun 15;21(12):2836-42
pubmed: 22419738
J Stat Softw. 2010;33(1):1-22
pubmed: 20808728
Am J Hum Genet. 2016 Apr 7;98(4):653-66
pubmed: 27018471
Hum Mol Genet. 2017 Aug 1;26(R1):R28-R36
pubmed: 28549150
PLoS Genet. 2016 Sep 13;12(9):e1006186
pubmed: 27623284
Nat Genet. 2005 May;37(5):549-54
pubmed: 15838508
Ophthalmology. 2017 Apr;124(4):547-553
pubmed: 28038983
Circulation. 2015 Nov 24;132(21):1969-78
pubmed: 26487755
Hum Mol Genet. 2015 Jul 1;24(13):3880-92
pubmed: 25861811
PLoS Genet. 2014 May 29;10(5):e1004372
pubmed: 24875647
Am J Hum Genet. 1998 Nov;63(5):1549-52
pubmed: 9792882
Nat Genet. 2016 Oct;48(10):1284-1287
pubmed: 27571263
Nat Genet. 2011 Jun;43(6):574-8
pubmed: 21532571
Arch Ophthalmol. 2010 May;128(5):551-9
pubmed: 20457975
Nat Rev Genet. 2010 Jul;11(7):459-63
pubmed: 20548291
PLoS Genet. 2013 Mar;9(3):e1003348
pubmed: 23555274
BMC Bioinformatics. 2011 Jun 18;12:246
pubmed: 21682921
PLoS Genet. 2012;8(4):e1002654
pubmed: 22570617
Pharmacogenomics. 2006 Jun;7(4):641-8
pubmed: 16768648
Nat Genet. 2010 Oct;42(10):906-9
pubmed: 20835238
PLoS Genet. 2012;8(5):e1002611
pubmed: 22570627
Hum Mol Genet. 2015 May 1;24(9):2689-99
pubmed: 25637523
Nat Genet. 2010 Apr;42(4):348-54
pubmed: 20208533
Am J Hum Genet. 2016 Jan 7;98(1):165-84
pubmed: 26748518
Hum Mol Genet. 2017 Aug 1;26(R1):R21-R27
pubmed: 28505344
Arch Ophthalmol. 2010 May;128(5):541-50
pubmed: 20457974
Ophthalmology. 2014 Feb;121(2):508-16
pubmed: 24572674
Curr Protoc Hum Genet. 2016 Oct 11;91:1.29.1-1.29.9
pubmed: 27727440
Arch Ophthalmol. 2009 Sep;127(9):1136-45
pubmed: 19752422
Annu Rev Stat Appl. 2014 Jan 1;1(1):279-300
pubmed: 24955378
Nat Genet. 2014 Oct;46(10):1120-1125
pubmed: 25173105
PLoS One. 2012;7(6):e39278
pubmed: 22761751
Exp Eye Res. 2013 Jun;111:105-11
pubmed: 23500522
Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2288-95
pubmed: 9804137
Am J Ophthalmol. 2013 Feb;155(2):342-353.e5
pubmed: 23111177
Bioinformatics. 2010 Sep 15;26(18):2336-7
pubmed: 20634204
Nat Genet. 2014 Oct;46(10):1115-9
pubmed: 25173107
Ophthalmology. 2019 Jan;126(1):156-170
pubmed: 29361356
Nat Genet. 2014 Oct;46(10):1126-1130
pubmed: 25173106
PLoS One. 2012;7(7):e40107
pubmed: 22792221
Invest Ophthalmol Vis Sci. 2013 Sep 17;54(9):6248-54
pubmed: 23963167
Inflamm Bowel Dis. 2010 Nov;16(11):1830-40
pubmed: 20848476

Auteurs

Kent D Taylor (KD)

Institute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California.

Xiuqing Guo (X)

Institute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California.

Linda M Zangwill (LM)

Department of Ophthalmology, Hamilton Glaucoma Center, Shiley Eye Institute, University of California, San Diego, La Jolla, California.

Jeffrey M Liebmann (JM)

Bernard and Shirlee Brown Glaucoma Research Laboratory, Harkness Eye Institute, Columbia University Medical Center, New York, New York.

Christopher A Girkin (CA)

Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama.

Robert M Feldman (RM)

Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas.

Harvey Dubiner (H)

Eye Care Center Management, Inc., Marrow, Georgia.

Yang Hai (Y)

Institute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California.

Brian C Samuels (BC)

Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama.

Joseph F Panarelli (JF)

Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York.

John P Mitchell (JP)

Bernard and Shirlee Brown Glaucoma Research Laboratory, Harkness Eye Institute, Columbia University Medical Center, New York, New York.

Lama A Al-Aswad (LA)

Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas.

Sung Chul Park (SC)

Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York.

Celso Tello (C)

Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York.

Jeremy Cotliar (J)

Bernard and Shirlee Brown Glaucoma Research Laboratory, Harkness Eye Institute, Columbia University Medical Center, New York, New York.

Rajendra Bansal (R)

Bernard and Shirlee Brown Glaucoma Research Laboratory, Harkness Eye Institute, Columbia University Medical Center, New York, New York.

Paul A Sidoti (PA)

Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York.

George A Cioffi (GA)

Bernard and Shirlee Brown Glaucoma Research Laboratory, Harkness Eye Institute, Columbia University Medical Center, New York, New York.

Dana Blumberg (D)

Bernard and Shirlee Brown Glaucoma Research Laboratory, Harkness Eye Institute, Columbia University Medical Center, New York, New York.

Robert Ritch (R)

Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York.

Nicholas P Bell (NP)

Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas.

Lauren S Blieden (LS)

Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas.

Garvin Davis (G)

Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas.

Felipe A Medeiros (FA)

Department of Ophthalmology, Hamilton Glaucoma Center, Shiley Eye Institute, University of California, San Diego, La Jolla, California.

Swapan K Das (SK)

Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Jasmin Divers (J)

Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Carl D Langefeld (CD)

Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Nicholette D Palmer (ND)

Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, North Carolina; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Barry I Freedman (BI)

Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Donald W Bowden (DW)

Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Maggie C Y Ng (MCY)

Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Yii-Der Ida Chen (YD)

Institute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California.

Radha Ayyagari (R)

Department of Ophthalmology, Hamilton Glaucoma Center, Shiley Eye Institute, University of California, San Diego, La Jolla, California.

Jerome I Rotter (JI)

Institute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California.

Robert N Weinreb (RN)

Department of Ophthalmology, Hamilton Glaucoma Center, Shiley Eye Institute, University of California, San Diego, La Jolla, California. Electronic address: rweinreb@ucsd.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Personnes › Nord-Américains › Groupes de population aux États-Unis › Populations d'origine continentale › Noir ou Africain Américain › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études transversales › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Maladies de l'oeil › Hypertension oculaire › Glaucome › Glaucome à angle ouvert › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Phénomènes physiologiques oculaires › Pression intraoculaire › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Lyases › Carbon-oxygen lyases › Hydro-lyases › Enolase › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genetic Architecture of Primary Open-Angle...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Courbe ROC › Genetic Architecture of Primary Open-Angle...