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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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Related Experiment Video

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LIN28A gene polymorphisms modify neuroblastoma susceptibility: A four-centre case-control study.

Rui-Xi Hua1,2, Zhenjian Zhuo1, Lili Ge3

  • 1Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Journal of Cellular and Molecular Medicine
|November 21, 2019
PubMed
Summary

This study found that specific LIN28A gene variations, particularly rs34787247 G>A, are linked to a higher risk of developing neuroblastoma, a common childhood cancer. These genetic factors may influence susceptibility to this pediatric malignancy.

Keywords:
LIN28Acase-control studyneuroblastomapolymorphismrisk

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Neuroblastoma is the most frequent solid tumor in children.
  • The LIN28A gene is implicated in various human cancers, but its role in neuroblastoma susceptibility via single nucleotide polymorphisms (SNPs) requires further investigation.

Purpose of the Study:

  • To investigate the association between four LIN28A SNPs (rs3811464 G>A, rs3811463 T>C, rs34787247 G>A, and rs11247957 G>A) and neuroblastoma risk in a Chinese population.
  • To evaluate the combined effects of these SNPs and identify potential risk genotypes and haplotypes.

Main Methods:

  • A case-control study involving 505 neuroblastoma patients and 1070 healthy controls from four Chinese hospitals.
  • Genotyping of four LIN28A SNPs using established methods.
  • Statistical analysis using odds ratios (ORs) and 95% confidence intervals (CIs) to assess correlations, including stratified and haplotype analyses.

Main Results:

  • The rs34787247 G>A polymorphism showed a significant association with increased neuroblastoma susceptibility in multiple genetic models (e.g., GA vs GG: OR=1.30, AA vs GG: OR=2.51).
  • Carrying multiple risk genotypes (e.g., three risk genotypes: OR=1.64; 1-4 risk genotypes: OR=1.26) was linked to a higher likelihood of developing neuroblastoma.
  • Haplotype analysis identified two specific haplotypes associated with elevated neuroblastoma risk.

Conclusions:

  • LIN28A SNPs, especially rs34787247 G>A, are associated with an increased risk of neuroblastoma.
  • The findings suggest a potential role for LIN28A genetic variations in neuroblastoma pathogenesis.
  • Further research may elucidate the functional mechanisms underlying this association.