Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.

Aged Aged, 80 and over Alleles Amish / genetics Computational Biology Female Gene Frequency Gene Ontology Genetic Association Studies Genetic Linkage Genetic Predisposition to Disease Genetic Variation Humans Indiana Macular Degeneration / genetics Male Ohio Pedigree Quantitative Trait Loci

Journal

Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873

Informations de publication

Date de publication:
Oct 2019
Historique:
received: 27 04 2019
accepted: 21 07 2019
pubmed: 2 8 2019
medline: 1 10 2019
entrez: 2 8 2019
Statut: ppublish

Résumé

Age-related macular degeneration (AMD) is a leading cause of blindness in the world. While dozens of independent genomic variants are associated with AMD, about one-third of AMD heritability is still unexplained. To identify novel variants and loci for AMD, we analyzed Illumina HumanExome chip data from 87 Amish individuals with early or late AMD, 79 unaffected Amish individuals, and 15 related Amish individuals with unknown AMD affection status. We retained 37,428 polymorphic autosomal variants across 175 samples for association and linkage analyses. After correcting for multiple testing (n = 37,428), we identified four variants significantly associated with AMD: rs200437673 (LCN9, p = 1.50 × 10

Identifiants

DOI: 10.1007/s00439-019-02050-4 PMID: 31367973 PMC: PMC6745026
pubmed: 31367973
doi: 10.1007/s00439-019-02050-4
pii: 10.1007/s00439-019-02050-4
pmc: PMC6745026
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1171-1182

Subventions

Organisme : NEI NIH HHS
ID : R01 EY022310
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY023164
Pays : United States
Organisme : PhRMA Foundation
ID : PhRMA Informatics Postdoctoral Fellowship
Organisme : NIH HHS
ID : EY023164
Pays : United States

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Auteurs

Andrea R Waksmunski (AR)

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.
Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Robert P Igo (RP)

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Yeunjoo E Song (YE)

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Jessica N Cooke Bailey (JN)

Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.
Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Renee Laux (R)

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Denise Fuzzell (D)

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Sarada Fuzzell (S)

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Larry D Adams (LD)

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Laura Caywood (L)

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Michael Prough (M)

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Dwight Stambolian (D)

Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.

William K Scott (WK)

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Margaret A Pericak-Vance (MA)

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Jonathan L Haines (JL)

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA. jonathan.haines@case.edu.
Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA. jonathan.haines@case.edu.
Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. jonathan.haines@case.edu.

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questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Rare variants and loci for age-related macular...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Sujet âgé de 80 ans ou plus › Rare variants and loci for age-related macular...
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