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Survivin gene polymorphism association with papillary thyroid carcinoma
Nasrin Yazdani1, Forough A Sayahpour, Vahid Haghpanah
1Otolaryngology and Head & Neck Surgery Research Centre, Tehran University of Medical Sciences, Iran.
Pathology, Research and Practice
|February 2, 2012
Summary
The survivin gene polymorphism rs 9904341 (G/C) is linked to an increased risk of papillary thyroid carcinoma (PTC). The C allele correlates with more aggressive PTC, including lymph node and vascular involvement.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Survivin protein inhibits apoptosis and is implicated in human solid tumors.
- A common polymorphism in the survivin gene promoter at position -31 (G/C, rs 9904341) has been investigated for its association with various cancer risks.
- Understanding genetic predispositions is crucial for cancer risk assessment and management.
Purpose of the Study:
- To investigate the association between the survivin gene -31 (G/C) polymorphism (rs 9904341) and the risk of papillary thyroid carcinoma (PTC) in an Iranian population.
- To determine if this polymorphism correlates with clinical manifestations and aggressiveness of PTC.
Main Methods:
- A case-control study was conducted with 123 PTC patients and 131 healthy controls from Iran.
- Genotyping for the survivin -31 (G/C) polymorphism was performed.
- Statistical analysis, including odds ratios (OR) and confidence intervals (CI), was used to assess the association with PTC risk and clinical features.
Main Results:
- The frequency of the GC or CC genotype was significantly higher in PTC patients compared to controls (p=0.02, OR=1.7).
- Patients with the GC or CC genotype showed a significantly higher risk of aggressive clinical manifestations, including lymphatic involvement (p=0.0006, OR=3.7).
- The presence of the C allele was significantly associated with more profound PTC manifestations, such as lymph node involvement, vascular invasion, and multifocality.
Conclusions:
- The survivin gene -31 (G/C) polymorphism (rs 9904341) is associated with an increased risk of papillary thyroid carcinoma in the studied Iranian population.
- This genetic variation may serve as a potential biomarker for predicting PTC aggressiveness and clinical outcomes.
- Further research is warranted to elucidate the functional mechanisms linking this polymorphism to thyroid cancer development and progression.
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