A Polymorphism (rs1801018, Thr7Thr) of BCL2 is Associated with Papillary Thyroid Cancer in Korean Population

Clin Exp Otorhinolaryngol. 2011 Sep;4(3):149-54. doi: 10.3342/ceo.2011.4.3.149. Epub 2011 Sep 6.


Objectives: Among the apoptosis signals, B-cell CLL/lymphoma 2 (BCL2) is a well-known regulator of apoptosis with anti-apoptotic properties. We investigated here whether single nucleotide polymorphisms (SNPs) of the BCL2 were associated with host susceptibility of papillary thyroid cancer (PTC) occurrence and clinicopathologic parameters.

Methods: Ninety-two PTC patients and 222 control subjects were recruited. One promoter SNP (rs2279115, -938A/C) and one synonymous SNP (rs1801018, Thr7Thr) in the BCL2 gene were selected and genotyped using direct sequencing. Multiple logistic regression models were performed to evaluate odds ratios, 95% confidence intervals, and P-values.

Results: rs1801018 of the BCL2 gene was not associated with the development of PTC. In the clinicopathologic features, rs1801018 SNP was associated with the number and location. The G allele frequency of rs1801018 in PTC patients with multifocality (13.3%) was about four-fold higher than that in PTC patients with unifocality (3.4%). The G allele frequency of rs1801018 in PTC patients with both lobes (15.4%) was increased by about five-fold, compared to PTC patients with one lobe (3.2%).

Conclusion: The results suggest that synonymous SNP rs1801018 and the G allele of the BCL2 gene may be associated with the multifocality and bilaterality of PTC in Korean population.

Keywords: BCL2; Haplotype; Papillary; Polymorphism; Thyroid cancer.