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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,...
Genome-wide Association Studies-GWAS01:11

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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...
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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...
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Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...

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HapMap-based study of CIP2A gene polymorphisms and HCC susceptibility.

Yuchun Li1, Kaijuan Wang, Liping Dai

  • 1Department of Epidemiology, College of Public Health, Zhengzhou University, Zhengzhou 450001.

Oncology Letters
|July 31, 2012
PubMed
Summary

Common variants in the CIP2A gene do not increase hepatocellular carcinoma (HCC) risk. However, hepatitis B and C virus infections synergize with specific CIP2A gene variations to elevate HCC risk in the Chinese Han population.

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Area of Science:

  • Oncology
  • Genetics
  • Hepatology

Background:

  • CIP2A is a human oncoprotein implicated in malignancies by inhibiting PP2A and stabilizing c-myc.
  • Elevated autoantibodies to CIP2A are observed in hepatocellular carcinoma (HCC) patients.
  • The CIP2A gene is considered a potential cancer susceptibility gene.

Purpose of the Study:

  • To investigate the association between common CIP2A gene variants and susceptibility to HCC.
  • To evaluate the interaction between CIP2A variants and hepatitis virus infections in HCC development.

Main Methods:

  • A case-control study involving 233 HCC cases and 280 controls from the Chinese Han population.
  • Analysis of two haplotype-tagging single nucleotide polymorphisms (htSNPs), rs2278911 and rs4855656, in the CIP2A gene.
  • Statistical analysis to determine associations and interactions with HCC risk, considering hepatitis B virus (HBV) and hepatitis C virus (HCV) infections.

Main Results:

  • Neither rs2278911 nor rs4855656, nor their haplotypes, showed a significant association with HCC risk.
  • A significant interaction was found between hepatitis B and C virus (HBV/HCV) infection and carriage of the C allele (TC or CC) at rs2278911, significantly increasing HCC risk (OR=12.35).
  • No such interaction was observed for rs4855656.

Conclusions:

  • Common genetic variations in the CIP2A gene are not associated with HCC susceptibility in the studied population.
  • HBV and HCV infections have a synergistic effect on HCC risk in individuals carrying the C allele of rs2278911.
  • These findings highlight the complex interplay between viral infections and host genetics in HCC pathogenesis.