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GWAS Study

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

Burdon KP, Macgregor S, Bykhovskaya Y et al.

22003120 PubMed ID
GWAS Study Type
5098 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BK
Burdon KP
MS
Macgregor S
BY
Bykhovskaya Y
JS
Javadiyan S
LX
Li X
LK
Laurie KJ
MD
Muszynska D
LR
Lindsay R
LJ
Lechner J
HT
Haritunians T
HA
Henders AK
DD
Dash D
SD
Siscovick D
AS
Anand S
AA
Aldave A
CD
Coster DJ
SL
Szczotka-Flynn L
MR
Mills RA
IS
Iyengar SK
TK
Taylor KD
PT
Phillips T
MG
Montgomery GW
RJ
Rotter JI
HA
Hewitt AW
SS
Sharma S
RY
Rabinowitz YS
WC
Willoughby C
CJ
Craig JE
Chapter II

Abstract

Summary of the research findings

Purpose: Keratoconus is a progressive disorder of the cornea that can lead to severe visual impairment or blindness. Although several genomic regions have been linked to rare familial forms of keratoconus, no genes have yet been definitively identified for common forms of the disease.

319 European ancestry cases, 3,462 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

5098
Total Participants
GWAS
Study Type
Yes
Replicated
615 European ancestry cases, 702 European ancestry controls
Replication Participants
European
Ancestry
U.S., Australia, U.K.
Recruitment Country
Chapter IV

AI-Generated Summary

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