Related Experiment Video

Updated: Apr 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K

The Axin2 rs2240308 polymorphism and susceptibility to lung cancer in a Chinese population

Dan Liu1, Ling Li, Yuguang Yang

  • 1Department of Medical Oncology, Cancer Hospital of Harbin Medical University, No. 150, Haping Road, Nangang, 150081, Harbin, China.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine
|August 6, 2014
PubMed

Insights

The Axin2 exon1 T148C polymorphism (rs2240308) is linked to lung cancer risk in the Chinese population. Carrying the T allele may decrease susceptibility to lung cancer.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Axis inhibition protein 2 (Axin2) is a key negative regulator of the Wnt/β-catenin pathway.
  • Axin2 functions as a tumor suppressor in various human cancers.
  • Prior studies suggested a link between Axin2 exon1 148 (rs2240308) SNP and lung cancer risk.

Purpose of the Study:

  • To investigate the association between the Axin2 exon1 148 (rs2240308) polymorphism and lung cancer susceptibility.
  • To analyze the role of this polymorphism in the Han Chinese population.

Main Methods:

  • Genotyping of the Axin2 exon1 148 SNP (rs2240308) using TaqMan assays.
  • Study included 555 controls and 520 lung cancer patients.
  • Unconditional logistic regression analysis was employed to calculate odds ratios (ORs) and 95% confidence intervals (CIs).

Main Results:

  • Significant differences in genotype frequencies (TC, TT, CC) were observed between lung cancer cases and controls (χ(2)=6.849, P=0.03256).
  • Individuals with the T allele (TC + TT genotypes) showed decreased lung cancer susceptibility compared to the CC genotype (OR=0.733, P=0.01382).
  • No significant association was found between the rs2240308 polymorphism and lung cancer histological subtypes.

Conclusions:

  • The Axin2 exon1 T148C polymorphism (rs2240308) is associated with altered lung cancer susceptibility in the Chinese population.
  • This finding reinforces the role of Axin2 as a gene implicated in lung cancer development.
  • The T allele may confer a protective effect against lung cancer in this population.

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

11.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

8.9K

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,...
14.4K
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...
80
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.1K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
156
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.3K
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K