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GWAS Study

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.

Diskin SJ, Capasso M, Schnepp RW et al.

22941191 PubMed ID
GWAS Study Type
10290 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

DS
Diskin SJ
CM
Capasso M
SR
Schnepp RW
CK
Cole KA
AE
Attiyeh EF
HC
Hou C
DM
Diamond M
CE
Carpenter EL
WC
Winter C
LH
Lee H
JJ
Jagannathan J
LV
Latorre V
IA
Iolascon A
HH
Hakonarson H
DM
Devoto M
MJ
Maris JM
Chapter II

Abstract

Summary of the research findings

Neuroblastoma is a cancer of the sympathetic nervous system that accounts for approximately 10% of all pediatric oncology deaths. Here, we report a genome-wide association study of 2,817 neuroblastoma cases and 7,473 controls. We identified two new associations at 6q16, the first within HACE1 (rs4336470; combined P=2.7×10(-11); odds ratio 1.26, 95% confidence interval (CI) 1.18-1.35) and the second within LIN28B (rs17065417; combined P=1.2×10(-8); odds ratio 1.38, 95% CI 1.23-1.54). Expression of LIN28B and let-7 miRNA correlated with rs17065417 genotype in neuroblastoma cell lines, and we observed significant growth inhibition upon depletion of LIN28B, specifically in neuroblastoma cells that were homozygous for the risk allele. Low HACE1 and high LIN28B expression in diagnostic primary neuroblastomas were associated with worse overall survival (P=0.008 and 0.014, respectively). Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression.

2,101 European ancestry cases, 4,202 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

10290
Total Participants
GWAS
Study Type
Yes
Replicated
351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls
Replication Participants
African American or Afro-Caribbean, European
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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