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GWAS Study

Association of Genetic Variation With Keratoconus.

McComish BJ, Sahebjada S, Bykhovskaya Y et al.

31855235 PubMed ID
GWAS Study Type
5853 Participants
61 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MB
McComish BJ
SS
Sahebjada S
BY
Bykhovskaya Y
WC
Willoughby CE
RA
Richardson AJ
TA
Tenen A
CJ
Charlesworth JC
MS
MacGregor S
MP
Mitchell P
LS
Lucas SEM
MR
Mills RA
MD
Mackey DA
LX
Li X
WJ
Wang JJ
JR
Jensen RA
RJ
Rotter JI
TK
Taylor KD
HA
Hewitt AW
RY
Rabinowitz YS
BP
Baird PN
CJ
Craig JE
BK
Burdon KP
Chapter II

Abstract

Summary of the research findings

Importance: Keratoconus is a condition in which the cornea progressively thins and protrudes in a conical shape, severely affecting refraction and vision. It is a major indication for corneal transplant. To discover new genetic loci associated with keratoconus and better understand the causative mechanism of this disease, we performed a genome-wide association study on patients with keratoconus.

522 European ancestry cases, 655 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

5853
Total Participants
GWAS
Study Type
Yes
Replicated
818 European ancestry cases, 3,858 European ancestry controls
Replication Participants
European
Ancestry
U.K., U.S., Australia
Recruitment Country
Chapter IV

AI-Generated Summary

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