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GWAS Study

Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Han Y, Byun J, Zhu C et al.

36828809 PubMed ID
GWAS Study Type
247486 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HY
Han Y
BJ
Byun J
ZC
Zhu C
SR
Sun R
RJ
Roh JY
CH
Cordell HJ
LH
Lee HS
SV
Shaw VR
KS
Kang SW
RJ
Razjouyan J
CM
Cooley MA
HM
Hassan MM
SK
Siminovitch KA
FT
Folseraas T
ED
Ellinghaus D
BA
Bergquist A
RS
Rushbrook SM
FA
Franke A
KT
Karlsen TH
LK
Lazaridis KN
MK
McGlynn KA
RL
Roberts LR
AC
Amos CI
Chapter II

Abstract

Summary of the research findings

Primary sclerosing cholangitis (PSC) is a rare autoimmune bile duct disease that is strongly associated with immune-mediated disorders. In this study, we implemented multitrait joint analyses to genome-wide association summary statistics of PSC and numerous clinical and epidemiological traits to estimate the genetic contribution of each trait and genetic correlations between traits and to identify new lead PSC risk-associated loci. We identified seven new loci that have not been previously reported and one new independent lead variant in the previously reported locus. Functional annotation and fine-mapping nominated several potential susceptibility genes such as MANBA and IRF5. Network-based in silico drug efficacy screening provided candidate agents for further study of pharmacological effect in PSC.

at least 2,871 European ancestry cases, at least 12,019 European ancestry controls (MTAG boosted by autoimmune-related disease samples)

Chapter III

Study Statistics

Key metrics and study information

247486
Total Participants
GWAS
Study Type
Yes
Replicated
at least 952 cases, 231,644 controls (MTAG boosted by autoimmune-related disease samples)
Replication Participants
European
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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