Journal
PHARMACOGENOMICS & PERSONALIZED MEDICINE
Volume 15, Issue -, Pages 235-247Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/PGPM.S342743
Keywords
single nucleotide polymorphism; SNP; esophageal squamous cell carcinoma; ESCC
Categories
Funding
- National Natural Science Foundation of China [81370001, 81300037, 81000028, 81570031, 81101889, 81472332, 81341006]
- Key Research and Development Program of Jiangsu Province [BE2016714]
- Natural Science Foundation of Jiangsu Province [BK2010333, BK2011481]
- 333 Elitist Training Program, Jiangsu, China [BRA2013135, BRA2017129]
- Six Talent Peaks Training Program, Jiangsu, China [2015-WSN-117, 2014-WSN-078]
- Distinguished Medical Specialist Program, Jiangsu, China
- Innovative and Entrepreneurial Elite Team Program (2016) , Jiangsu, China
- Shanghai Hospital Development Center [SHDC12018X12, SHDC2020CR4039]
- Natural Science Foundation of Shanghai [20ZR1411600]
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This study investigated the relationship between AP1S1 gene polymorphisms and susceptibility to esophageal squamous cell carcinoma (ESCC) in the Chinese population. The study found that certain single nucleotide polymorphisms of the AP1S1 gene were associated with the risk of ESCC. These findings may contribute to the development of diagnostic biomarkers for ESCC.
Background: The Sigma 1A subunit of the adaptor protein 1 (AP1S1) participates in various intracellular transport pathways, especially the maintenance of copper homeostasis, which is pivotal in carcinogenesis. It is therefore rational to presume that AP1S1 might also be involved in carcinogenesis. In this hospital-based case-control study, we investigated the genetic susceptibility to ESCC in relation to SNPs of AP1S1 among Chinese population. Methods: A database containing a total of 1303 controls and 1043 ESCC patients were retrospectively studied. The AP1S1 SNPs were analyzed based on ligation detection reaction (LDR) method. Then, the relationship between ESCC and SNPs of AP1S1 was determined with a significant crude P<0.05. Then the logistic regression analysis was used for the calculation for adjusted P in the demographic stratification comparison if a significant difference was observed in the previous step. Results: AP1S1 rs77387752 C>T genotype TT was an independent risk factor for ESCC, while rs4729666 C>T genotype TC and rs35208462 C>T genotype TC were associated with a lower risk for ESCC, especially in co-dominant model and allelic test for younger, male subjects who are not alcohol-drinkers nor cigarette smokers. Conclusion: AP1S1 rs77387752, rs4729666 and rs35208462 polymorphisms are associated with susceptibility to ESCC in Chinese individuals. AP1S1 SNPs may exert an important role in esophageal carcinogenesis and could serve as potential diagnostic biomarkers.
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