Related Experiment Video

Updated: Apr 14, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K

Identification of regulatory SNPs associated with genetic modifications in lung adenocarcinoma

Tzu-Pin Lu1, Chuhsing K Hsiao2,3, Liang-Chuan Lai4,5

  • 1Department of Public Health, Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan. tplu@ntu.edu.tw.

BMC Research Notes
|April 19, 2015
PubMed
Abstract

Insights

Researchers identified specific single nucleotide polymorphisms (SNPs) linked to gene expression changes in lung adenocarcinoma. These findings offer insights into the genomic alterations driving cancer in non-smoking women.

Area of Science:

  • Genomics
  • Molecular Biology
  • Cancer Research

Background:

  • The molecular mechanisms of lung cancer remain incompletely understood.
  • Reproducible identification of differentially expressed genes is challenging due to low consistency across studies.
  • Integrated analysis is crucial for identifying reliable molecular markers.

Purpose of the Study:

  • To enhance the reproducibility of lung cancer findings through integrated analysis.
  • To identify regulatory single nucleotide polymorphisms (SNPs) associated with gene expression changes.
  • To investigate the roles of copy number variations (CNVs) and methylation alterations in lung tumorigenesis.

Main Methods:

  • Analysis of 32 pairs of tumor and adjacent normal lung tissues using Affymetrix U133plus2.0, Affymetrix SNP 6.0, and Illumina Infinium Methylation microarrays.
  • Identification of differentially expressed genes using paired t-tests.
  • Analysis of copy number variations (CNVs) and methylation alterations.
  • Application of three statistical approaches to identify regulatory SNPs associated with CNVs and methylation changes.

Main Results:

  • Identified 505 differentially expressed genes with patterns moderately correlating with CNVs and methylation alterations.
  • Discovered 551 SNPs associated with CNVs and 66 SNPs associated with methylation changes.
  • Observed downstream transcriptional dysregulation in 9 SNPs for CNVs and 4 SNPs for methylation alterations.

Conclusions:

  • Identified SNPs demonstrated concurrent gene expression changes and genetic modifications.
  • These SNPs play pivotal roles in the genome of non-smoking women with lung adenocarcinoma.
  • The findings contribute to a better understanding of lung cancer molecular mechanisms.

More Related Videos

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer07:59

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

1.9K
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing05:17

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

Published on: October 10, 2025

547

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
20.1K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
70
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
10.2K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
94