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GWAS Study

A Genome-Wide Association Study implicates NR2F2 in Lymphangioleiomyomatosis Pathogenesis.

Kim W, Giannikou K, Dreier JR et al.

31000673 PubMed ID
GWAS Study Type
228735 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KW
Kim W
GK
Giannikou K
DJ
Dreier JR
LS
Lee S
TM
Tyburczy ME
SE
Silverman EK
RE
Radzikowska E
WS
Wu S
WC
Wu CL
HE
Henske EP
HG
Hunninghake G
CH
Carel H
RA
Roman A
PM
Pujana MA
MJ
Moss J
WS
Won S
KD
Kwiatkowski DJ
Chapter II

Abstract

Summary of the research findings

Introduction: Lymphangioleiomyomatosis (LAM) occurs either associated with tuberous sclerosis complex (TSC) or as sporadic disease (S-LAM). Risk factors for development of S-LAM are unknown. We hypothesised that DNA sequence variants outside of TSC2/TSC1 might be associated with susceptibility for S-LAM and performed a genome-wide association study (GWAS).

426 European ancestry cases, 852 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

228735
Total Participants
GWAS
Study Type
Yes
Replicated
196 European ancestry cases, up to 226,140 European ancestry controls, up to 1,121 Hispanic white controls
Replication Participants
European, Hispanic or Latin American
Ancestry
Panama, Canada, U.S., Australia, France, Germany, Israel, Poland, U.K., Italy, Spain, Puerto Rico
Recruitment Country
Chapter IV

AI-Generated Summary

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