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GWAS Study

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.

Vishal M, Sharma A, Kaurani L et al.

27001270 PubMed ID
GWAS Study Type
1317 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

VM
Vishal M
SA
Sharma A
KL
Kaurani L
AG
Alfano G
MS
Mookherjee S
NK
Narta K
AJ
Agrawal J
BI
Bhattacharya I
RS
Roychoudhury S
RJ
Ray J
WN
Waseem NH
BS
Bhattacharya SS
BA
Basu A
SA
Sen A
RK
Ray K
MA
Mukhopadhyay A
Chapter II

Abstract

Summary of the research findings

Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely influenced by the rate of aqueous humor production by ciliary processes and its passage through the trabecular meshwork (TM) in the anterior part of the eye. Primary open angle glaucoma (POAG), the most common subtype, is a genetically complex disease. Multiple genes and many loci have been reported to be involved in POAG but taken together they explain less than 10 % of the patients from a genetic perspective warranting more studies in different world populations. The purpose of this study was to perform genome-wide search for common variants associated with POAG in an east-Indian population.

347 Indian ancestry cases, 354 Indian ancestry controls

Chapter III

Study Statistics

Key metrics and study information

1317
Total Participants
GWAS
Study Type
Yes
Replicated
319 Indian ancestry cases, 297 Indian ancestry controls
Replication Participants
South Asian
Ancestry
India
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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