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GWAS Study

Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records.

Restrepo NA, Laper SM, Farber-Eger E et al.

30255811 PubMed ID
GWAS Study Type
1514 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

RN
Restrepo NA
LS
Laper SM
FE
Farber-Eger E
CD
Crawford DC
Chapter II

Abstract

Summary of the research findings

Glaucoma is a leading cause of blindness in developed countries. Primary open-angle glaucoma (POAG), the most prevalent clinical subtype of glaucoma in the United States, affects African Americans at a higher rate compared with European Americans. Risk factors identified for POAG include increased age and family history, which coupled with heritability estimates, suggest this complex condition is associated with genetic and environmental factors. To date, several genome-wide studies have identified loci significantly associated with POAG risk, but most of these studies were performed in populations of European-descent.

138 African American cases, 1,376 African American controls

Chapter III

Study Statistics

Key metrics and study information

1514
Total Participants
GWAS
Study Type
No
Replicated
African American or Afro-Caribbean
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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