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GWAS Study

Genome wide association study identifies 4 novel risk loci for small intestinal neuroendocrine tumors including a missense mutation in LGR5.

Giri AK, Aavikko M, Wartiovaara L et al.

37453564 PubMed ID
GWAS Study Type
615071 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GA
Giri AK
AM
Aavikko M
WL
Wartiovaara L
LT
Lemmetyinen T
KJ
Karjalainen J
MJ
Mehtonen J
PK
Palin K
VN
Välimäki N
TM
Tamlander M
SR
Saikkonen R
KA
Karhu A
ME
Morgunova E
SB
Sun B
RH
Runz H
PP
Palta P
LS
Luo S
JH
Joensuu H
MT
Mäkelä TP
KI
Kostiainen I
SC
Schalin-Jäntti C
FN
FinnGen None
PA
Palotie A
AL
Aaltonen LA
OS
Ollila S
DM
Daly MJ
Chapter II

Abstract

Summary of the research findings

Background & aims: Small intestinal neuroendocrine tumor (SI-NET) is a rare disease, but its incidence has increased over the past 4 decades. Understanding the genetic risk factors underlying SI-NETs can help in disease prevention and may provide clinically beneficial markers for diagnosis. Here the results of the largest genome-wide association study of SI-NETs performed to date with 405 cases and 614,666 controls are reported.

307 Finnish ancestry cases, 287,137 Finnish ancestry controls

Chapter III

Study Statistics

Key metrics and study information

615071
Total Participants
GWAS
Study Type
Yes
Replicated
98 cases, 327,529 controls
Replication Participants
European
Ancestry
Finland, U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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