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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

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DNA repair polymorphisms modify bladder cancer risk: a multi-factor analytic strategy.

Angeline S Andrew¹, Margaret R Karagas, Heather H Nelson

¹Department of Community and Family Medicine, Section of Biostatistics and Epidemiology, Dartmouth Medical School, Lebanon, NH 03756, USA. Angeline.Andrew@dartmouth.edu

|September 28, 2007

Summary

This summary is machine-generated.

Common single nucleotide polymorphisms (SNPs) in DNA repair genes influence bladder cancer risk. Gene-gene interactions, particularly between XRCC1 and XRCC3, significantly impact cancer development, underscoring the importance of these genetic variations.

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Area of Science:

Genetics and Genomics
Cancer Research
Molecular Epidemiology

Background:

Common non-synonymous single nucleotide polymorphisms (SNPs) in DNA repair genes are implicated in modifying bladder cancer risk.
Specific SNPs in base excision repair (BER), nucleotide excision repair (NER), and double-strand break repair (DSB) pathways have been identified.

Purpose of the Study:

To investigate the independent and interacting effects of common DNA repair gene SNPs on bladder cancer risk.
To explore gene-environment and gene-gene interactions using multiple statistical approaches.

Main Methods:

Analysis of genotypes for APE1-Asn148Gln, XRCC1-Arg399Gln, XRCC1-Arg194Trp, XPD-Gln751Lys, and XRCC3-Thr241Met in 1,029 bladder cancer cases and 1,281 controls.
Utilized logistic regression, Multifactor Dimensionality Reduction (MDR), hierarchical interaction graphs, classification and regression trees (CART), and logic regression analyses.

Main Results:

A significant gene-gene interaction was observed between XRCC1-399 and XRCC3-241 (p = 0.001), with an adjusted odds ratio of 2.0 for combined variant genotypes.
An interaction between XRCC1-399 and XPD-751 was also predicted by three methods (p = 0.008).
The variant XRCC3-241 (TT) genotype showed an odds ratio of 1.7 among current smokers.

Conclusions:

Common polymorphisms in DNA repair genes contribute to modifying bladder cancer risk.
The study highlights the utility of employing multiple analytical methods to detect complex gene-gene and gene-environment interactions in cancer research.