Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan
Abstract Background Due to differences in genetic background, it is unclear whether the genetic loci identified by the previous genome-wide association studies (GWAS) of pancreatic cancer also play significant roles in the development of pancreatic cancer among the Taiwanese population. Methods This...
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2020-05-01
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Online Access: | http://link.springer.com/article/10.1186/s12929-020-00664-9 |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yan-Shen Shan Li-Tzong Chen Jin-Shang Wu Yin-Fan Chang Chih-Ting Lee Chih-Hsing Wu Nai-Jung Chiang Hsin-En Huang Chia-Jui Yen Ying-Jui Chao Hui-Jen Tsai Chiung-Yu Chen Jui-Wen Kang Chin-Fu Kuo Chia-Rung Tsai Ya-Ling Weng Han-Chien Yang Hui-Chin Liu Jeffrey S. Chang |
spellingShingle |
Yan-Shen Shan Li-Tzong Chen Jin-Shang Wu Yin-Fan Chang Chih-Ting Lee Chih-Hsing Wu Nai-Jung Chiang Hsin-En Huang Chia-Jui Yen Ying-Jui Chao Hui-Jen Tsai Chiung-Yu Chen Jui-Wen Kang Chin-Fu Kuo Chia-Rung Tsai Ya-Ling Weng Han-Chien Yang Hui-Chin Liu Jeffrey S. Chang Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan Journal of Biomedical Science Genome-wide association Epidemiology and prevention Pancreatic cancer Gene-environment interaction |
author_facet |
Yan-Shen Shan Li-Tzong Chen Jin-Shang Wu Yin-Fan Chang Chih-Ting Lee Chih-Hsing Wu Nai-Jung Chiang Hsin-En Huang Chia-Jui Yen Ying-Jui Chao Hui-Jen Tsai Chiung-Yu Chen Jui-Wen Kang Chin-Fu Kuo Chia-Rung Tsai Ya-Ling Weng Han-Chien Yang Hui-Chin Liu Jeffrey S. Chang |
author_sort |
Yan-Shen Shan |
title |
Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan |
title_short |
Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan |
title_full |
Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan |
title_fullStr |
Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan |
title_full_unstemmed |
Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan |
title_sort |
validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from taiwan |
publisher |
BMC |
series |
Journal of Biomedical Science |
issn |
1423-0127 |
publishDate |
2020-05-01 |
description |
Abstract Background Due to differences in genetic background, it is unclear whether the genetic loci identified by the previous genome-wide association studies (GWAS) of pancreatic cancer also play significant roles in the development of pancreatic cancer among the Taiwanese population. Methods This study aimed to validate the 25 pancreatic cancer GWAS-identified single nucleotide polymorphisms (SNPs) in a case-control study (278 cases and 658 controls) of pancreatic cancer conducted in Taiwan. Statistical analyses were conducted to determine the associations between the GWAS-identified SNPs and pancreatic cancer risk. Gene-environment interaction analysis was conducted to evaluate the interactions between SNPs and environmental factors on pancreatic cancer risk. Results Among the 25 GWAS-identified SNPs, 7 (rs2816938 (~ 11 kb upstream of NR5A2), rs10094872 (~ 28 kb upstream of MYC), rs9581943 (200 bp upstream of PDX1) and 4 chromosome 13q22.1 SNPs: rs4885093, rs9573163, rs9543325, rs9573166) showed a statistically significant association with pancreatic cancer risk in the current study. Additional analyses showed two significant gene-environment interactions (between poor oral hygiene and NR5A2 rs2816938 and between obesity and PDX1 rs9581943) on the risk of pancreatic cancer. Conclusions The current study confirmed the associations between 7 of the 25 GWAS-identified SNPs and pancreatic risk among the Taiwanese population. Furthermore, pancreatic cancer was jointly influenced by lifestyle and medical factors, genetic polymorphisms, and gene-environment interaction. Additional GWAS is needed to determine the genetic polymorphisms that are more relevant to the pancreatic cancer cases occurring in Taiwan. |
topic |
Genome-wide association Epidemiology and prevention Pancreatic cancer Gene-environment interaction |
url |
http://link.springer.com/article/10.1186/s12929-020-00664-9 |
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doaj-84665822d70547ba90bd5cbed0aec83a2020-11-25T03:29:43ZengBMCJournal of Biomedical Science1423-01272020-05-0127111410.1186/s12929-020-00664-9Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from TaiwanYan-Shen Shan0Li-Tzong Chen1Jin-Shang Wu2Yin-Fan Chang3Chih-Ting Lee4Chih-Hsing Wu5Nai-Jung Chiang6Hsin-En Huang7Chia-Jui Yen8Ying-Jui Chao9Hui-Jen Tsai10Chiung-Yu Chen11Jui-Wen Kang12Chin-Fu Kuo13Chia-Rung Tsai14Ya-Ling Weng15Han-Chien Yang16Hui-Chin Liu17Jeffrey S. Chang18Department of Surgery, National Cheng Kung University Hospital, National Cheng Kung UniversityNational Institute of Cancer Research, National Health Research InstitutesDepartment of Family Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityDepartment of Family Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityDepartment of Family Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityDepartment of Family Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityNational Institute of Cancer Research, National Health Research InstitutesDepartment of Family Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityDepartment of Internal Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityDepartment of Surgery, National Cheng Kung University Hospital, National Cheng Kung UniversityNational Institute of Cancer Research, National Health Research InstitutesDepartment of Internal Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityDepartment of Internal Medicine, National Cheng Kung University Hospital, National Cheng Kung UniversityPreventive Medicine Center, Taichung Tzu Chi HospitalNational Institute of Cancer Research, National Health Research InstitutesNational Institute of Cancer Research, National Health Research InstitutesNational Institute of Cancer Research, National Health Research InstitutesDepartment of Nursing, National Cheng Kung University Hospital, National Cheng Kung UniversityNational Institute of Cancer Research, National Health Research InstitutesAbstract Background Due to differences in genetic background, it is unclear whether the genetic loci identified by the previous genome-wide association studies (GWAS) of pancreatic cancer also play significant roles in the development of pancreatic cancer among the Taiwanese population. Methods This study aimed to validate the 25 pancreatic cancer GWAS-identified single nucleotide polymorphisms (SNPs) in a case-control study (278 cases and 658 controls) of pancreatic cancer conducted in Taiwan. Statistical analyses were conducted to determine the associations between the GWAS-identified SNPs and pancreatic cancer risk. Gene-environment interaction analysis was conducted to evaluate the interactions between SNPs and environmental factors on pancreatic cancer risk. Results Among the 25 GWAS-identified SNPs, 7 (rs2816938 (~ 11 kb upstream of NR5A2), rs10094872 (~ 28 kb upstream of MYC), rs9581943 (200 bp upstream of PDX1) and 4 chromosome 13q22.1 SNPs: rs4885093, rs9573163, rs9543325, rs9573166) showed a statistically significant association with pancreatic cancer risk in the current study. Additional analyses showed two significant gene-environment interactions (between poor oral hygiene and NR5A2 rs2816938 and between obesity and PDX1 rs9581943) on the risk of pancreatic cancer. Conclusions The current study confirmed the associations between 7 of the 25 GWAS-identified SNPs and pancreatic risk among the Taiwanese population. Furthermore, pancreatic cancer was jointly influenced by lifestyle and medical factors, genetic polymorphisms, and gene-environment interaction. Additional GWAS is needed to determine the genetic polymorphisms that are more relevant to the pancreatic cancer cases occurring in Taiwan.http://link.springer.com/article/10.1186/s12929-020-00664-9Genome-wide associationEpidemiology and preventionPancreatic cancerGene-environment interaction |