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Published on: October 8, 2015
Correlation between polymorphisms of BRAF gene and papillary thyroid carcinoma
Rui Jiang1, Chunming Zhao2, Hao Xu3
1Department of Oncology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Single nucleotide polymorphisms (SNPs) in BRAF, specifically rs3748093, are linked to an increased risk of papillary thyroid carcinoma (PTC) in the Chinese population. This finding highlights a potential genetic factor contributing to PTC development.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Papillary thyroid carcinoma (PTC) incidence is rising globally.
- BRAF gene single nucleotide polymorphisms (SNPs) are implicated as risk factors for PTC.
- Understanding genetic predispositions is crucial for PTC risk assessment.
Purpose of the Study:
- To investigate the association between common BRAF gene mutations and the risk of developing PTC.
- To evaluate the role of specific BRAF SNPs in a Chinese population.
- To identify potential genetic markers for PTC susceptibility.
Main Methods:
- Genotyping of four BRAF SNPs (rs11762469, rs17623204, rs1267636, rs3748093) using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Analysis of 618 subjects (206 PTC patients, 412 healthy controls) from a Chinese population.
- Statistical assessment of the correlation between BRAF polymorphisms and PTC risk using Student's t-test and chi-square test.
Main Results:
- The BRAF SNP rs3748093 polymorphism showed a significant association with increased PTC risk.
- This association was observed in allele (OR=1.68), dominant (OR=1.64), and homozygote (OR=2.94) models.
- No significant association was found between the other three studied BRAF SNPs (rs11762469, rs17623204, rs1267636) and PTC risk.
Conclusions:
- Polymorphism at rs3748093 in the BRAF gene is significantly correlated with elevated PTC risk in the Chinese population.
- The rs3748093*A allele is a potential genetic marker for increased susceptibility to PTC.
- Further research is warranted to elucidate the etiological mechanisms underlying this association.
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