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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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Updated: Feb 21, 2026

Author Spotlight: RNA FISH for Locating lncRNA-SNHG6 in Osteosarcoma Cells
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Association between H19 polymorphisms and osteosarcoma risk.

T-D He1, D Xu, T Sui

  • 1Department of Orthopedics, The First People's Hospital of Changzhou, Changzhou, Jiangsu Province, China. doctorwym51346@163.com.

European Review for Medical and Pharmacological Sciences
|October 5, 2017
PubMed
Summary
This summary is machine-generated.

The H19 gene polymorphism rs217727 is linked to increased osteosarcoma risk. This finding suggests H19 single nucleotide polymorphisms (SNPs) may contribute to genetic susceptibility in osteosarcoma development.

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Long non-coding RNA (lncRNA) H19 is implicated in cancer susceptibility and progression.
  • The role of H19 polymorphisms in osteosarcoma risk is not well understood.

Purpose of the Study:

  • To investigate the association between H19 gene polymorphisms and osteosarcoma susceptibility.
  • To explore the potential contribution of H19 SNPs to cancer pathogenesis.

Main Methods:

  • A case-control study was conducted.
  • Genotyping of 4 tagger single nucleotide polymorphisms (SNPs) in the H19 gene.
  • 193 osteosarcoma cases and 393 cancer-free controls were included.

Main Results:

  • The H19 rs217727 (G>A) polymorphism was significantly associated with osteosarcoma risk.
  • Increased odds ratios were observed for heterozygous (GA/GG) and homozygous (AA/GG) genotypes.
  • An additive model also showed a significant association (adjusted OR = 1.35, p = 0.043).

Conclusions:

  • The rs217727 polymorphism in the H19 gene may contribute to genetic susceptibility to osteosarcoma.
  • This finding enhances the understanding of H19's role in osteosarcoma pathogenesis.
  • Further research into H19 SNPs and cancer risk is warranted.