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GWAS Study

The association of integration patterns of human papilloma virus and single nucleotide polymorphisms on immune- or DNA repair-related genes in cervical cancer patients.

Joo J, Omae Y, Hitomi Y et al.

31511581 PubMed ID
GWAS Study Type
161 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JJ
Joo J
OY
Omae Y
HY
Hitomi Y
PB
Park B
SH
Shin HJ
YK
Yoon KA
SH
Sawai H
TM
Tsuiji M
HT
Hayashi T
KS
Kong SY
TK
Tokunaga K
KJ
Kim JY
Chapter II

Abstract

Summary of the research findings

The present study investigated the association between single nucleotide polymorphisms (SNPs) in immune- or DNA repair-related genes and the integration pattern of human papillomavirus (HPV), a promising prognostic marker in cervical cancer. The HPV integration patterns of cervical cancer patients were determined by polymerase chain reaction and in situ hybridization, and categorized as episomal (group A), single-copy or multi-copy tandem repetition integrated (group B), and undetectable HPV types (group C). After sample and SNP quality control, 166,505 SNPs in 161 samples (38, 111, and 12 patients in groups A, B, and C, respectively) were examined. None of the SNPs reached genome-wide significance, and several candidate SNPs for future study were selected, including rs10999435 on chromosome 10q22, rs1322054 on chromosome 9q32-33, and rs10902171 on chromosome 11p15. Luciferase assay identified rs1322054 as the primary functional variant to regulate gene expression in immune cell. Further studies are needed to determine the genetic background of different integration patterns of HPV in cervical cancer patients.

161 Korean ancestry individuals with cervical cancer

Chapter III

Study Statistics

Key metrics and study information

161
Total Participants
GWAS
Study Type
No
Replicated
East Asian
Ancestry
Republic of Korea
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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