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Single Nucleotide Polymorphisms-SNPs01:05

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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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Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
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Comparing Copy Number Variations and SNPs02:26

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  11. Cyp19a1 Polymorphisms And Bladder Cancer Risk In The Chinese Han Population

CYP19A1 polymorphisms and bladder cancer risk in the Chinese Han population

Jing Liang1,2,3, Yongfei Li4, Panpan Wan1,2,3

  • 1Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, School of Life Sciences, Northwest University, Xi'an, Shaanxi, China.

Expert Review of Molecular Diagnostics
|August 1, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) in the CYP19A1 gene are associated with bladder cancer risk. These CYP19A1 gene variations may influence genetic susceptibility to bladder cancer.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The expression of Cytochrome P450 Family 19 Subfamily A Member 1 (CYP19A1) is linked to bladder cancer prognosis in females.
  • No previous studies have investigated the association between CYP19A1 single nucleotide polymorphisms (SNPs) and bladder cancer risk.

Purpose of the Study:

  • To explore the association between specific CYP19A1 gene polymorphisms and the risk of developing bladder cancer.
  • To investigate the functional impact of these SNPs on CYP19A1 expression and relevant biological pathways.

Main Methods:

  • Genotyping of five CYP19A1 SNPs (rs4646, rs6493487, rs1062033, rs17601876, rs3751599) in 217 bladder cancer patients and 550 controls.
  • Analysis using the Agena MassARRAY system, logistic regression for odds ratios (OR) and confidence intervals (CIs), and bioinformatics for SNP function prediction.
Keywords:
Bladder cancerCYP19A1Chinese Han populationcase–control study

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Main Results:

  • Significant associations were found between bladder cancer risk and four CYP19A1 SNPs: rs4646, rs6493487, rs1062033, and rs17601876.
  • Three SNPs (rs4646, rs1062033, rs17601876) showed significant correlation with CYP19A1 expression levels in normal whole blood.
  • CYP19A1 was primarily implicated in steroid hormone biosynthesis and metabolic pathways.

Conclusions:

  • CYP19A1 gene polymorphisms may play a significant role in the genetic susceptibility to bladder cancer.
  • These findings highlight the potential of CYP19A1 SNPs as biomarkers for bladder cancer risk assessment.
polymorphism