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GWAS Study

Clinical significance of germline telomere length and associated genetic factors in patients with neuroblastoma.

Bae JS, Lee JW, Joung JG et al.

35902621 PubMed ID
GWAS Study Type
186 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BJ
Bae JS
LJ
Lee JW
JJ
Joung JG
CH
Cho HW
JH
Ju HY
YK
Yoo KH
KH
Koo HH
SK
Sung KW
Chapter II

Abstract

Summary of the research findings

Studies investigating the relationship between germline telomere length and the clinical characteristics of tumors are very limited. This study evaluated the relationship between germline telomere length and the clinical characteristics of neuroblastoma. In addition, a genome-wide association study (GWAS) was performed to investigate the genetic factors associated with germline telomere length. The germline telomere length of peripheral blood mononuclear cells from 186 patients with neuroblastoma was measured by quantitative polymerase chain reaction. The association between germline telomere length and clinical characteristics, including long-term survival, was investigated. For the GWAS, genotyping was performed with a high-density bead chip (Illumina, San Diego, CA, USA). After strict quality-control checks of the samples, an association analysis was conducted. The result showed that longer germline telomeres were significantly associated with longer event-free survival (P = 0.032). To identify significantly assocated genetic markers for germline telomere length, genome wide association analysis was performed. As a result, several single nucleotide polymorphisms located in HIVEP3, LRRTM4, ADGRV1, RAB30, and CHRNA4 genes were discovered. During gene-based analysis (VEGAS2 tool), the CNTN4 gene had the most significant association with germline telomere length (P = 1.0E-06). During gene ontology analysis, susceptible genes associated with germline telomere length were mainly distributed in neurite morphogenesis and neuron development. A longer germline telomere length is associated with favorable prognostic factors at diagnosis and eventually better event-free survival in patients with neuroblastoma. In addition, the GWAS demonstrated that genetic markers and genes related to germline telomere length are associated with neurite morphogenesis and neuron development. Further research with larger cohorts of patients and functional investigations are needed.

186 individuals

Chapter III

Study Statistics

Key metrics and study information

186
Total Participants
GWAS
Study Type
No
Replicated
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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