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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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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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A Multigene-Panel Study Identifies Single Nucleotide Polymorphisms Associated with Prostate Cancer Risk.

Maria Antonietta Manca1, Fabio Scarpa1, Davide Cossu1

  • 1Dipartimento di Scienze Biomediche, University of Sassari, 07100 Sassari, Italy.

International Journal of Molecular Sciences
|April 28, 2023
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Summary

Genetic variations in immune response genes are linked to prostate cancer risk. This study identified specific single nucleotide polymorphisms (SNPs) associated with increased susceptibility and disease severity, offering insights into prostate cancer immunogenetics.

Keywords:
Gleason scoresIL2RA and TNFRSF1BPSASLC11A1TNFRSF1Bprostate cancer

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Area of Science:

  • Immunogenetics
  • Oncology
  • Molecular Biology

Background:

  • The immune system critically influences cancer development and progression.
  • Polymorphisms in immune response genes can alter cancer susceptibility.
  • Understanding these genetic links is vital for prostate cancer research.

Purpose of the Study:

  • To investigate the association between genetic variants in 35 immune-related genes and prostate cancer risk.
  • To identify specific single nucleotide polymorphisms (SNPs) linked to prostate cancer susceptibility and severity.
  • To explore the immunogenetic landscape of prostate cancer.

Main Methods:

  • Next-generation sequencing was used to analyze 35 immune-related genes in 47 prostate cancer patients and 43 healthy controls.
  • Allelic and genotype frequencies were calculated.
  • Generalized linear mixed models and odds ratios were applied to assess the association between SNPs and prostate cancer risk, Gleason scores, and PSA values.

Main Results:

  • Significant differences in allelic and genotypic distributions were found for genes including IL4R, IL12RB1, IL12RB2, IL6, TMPRSS2, and ACE2.
  • Statistically significant associations between prostate cancer risk and SNPs were identified in IL12RB2, IL13, IL17A, IL4R, MAPT, and TNFRSF1B.
  • Associations were also found between IL2RA, TNFRSF1B, and Gleason scores, and between SLC11A1, TNFRSF1B, and PSA values.

Conclusions:

  • Specific SNPs in immune and prostate cancer-associated genes are linked to prostate cancer risk and progression.
  • These findings contribute to understanding the immunogenetic factors influencing prostate cancer susceptibility.
  • The study highlights the potential impact of immune gene SNPs on prostate cancer development.