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Updated: Jun 12, 2026
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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
SERPINE1 intron polymorphisms affecting gene expression are associated with diffuse-type gastric cancer
Hyoungseok Ju1, Byungho Lim, Minjin Kim
1Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea.
Cancer
|June 16, 2010
Summary
Polymorphisms in SERPINE1 intron 7 are associated with diffuse-type gastric cancer (DGC) susceptibility in Koreans. These variations influence gene expression, unlike the common 4G/5G promoter polymorphism.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- SERPINE1 (serpin peptidase inhibitor 1, clade E, member 1), also known as plasminogen activator inhibitor type 1, is a key regulator in tumorigenesis.
- Elevated SERPINE1 expression is observed in numerous cancer types, highlighting its role in cancer development.
Purpose of the Study:
- To investigate the association between SERPINE1 gene polymorphisms and susceptibility to gastric cancer in a Korean population.
- To determine if specific SERPINE1 variations influence gene expression levels.
Main Methods:
- Genotyping of five tag single nucleotide polymorphisms (SNPs) and one insertion polymorphism in SERPINE1 among 1101 Korean individuals (612 gastric cancer patients, 489 controls).
- Multivariate logistic regression analyses were used to assess associations with diffuse-type gastric cancer (DGC) and intestinal-type gastric cancer susceptibility.
- Luciferase assays were employed to measure allelic differences in gene expression.
Main Results:
- A specific SNP (c.1162+162C>T, rs2227692) in intron 7 was significantly associated with increased DGC susceptibility (OR=1.6, P=.00084).
- This risk SNP was linked to other intronic variations, forming a risk haplotype that increased gene expression by 30% (P=.025).
- The common 4G/5G promoter polymorphism (rs1799768) showed no association with DGC susceptibility.
Conclusions:
- Specific polymorphisms within SERPINE1 intron 7, not the 4G/5G promoter polymorphism, are associated with diffuse-type gastric cancer susceptibility.
- These intronic variations impact SERPINE1 gene expression, suggesting a functional role in gastric cancer development.
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