Clin Exp Otorhinolaryngol.  2011 Sep;4(3):149-154.

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

• Eun YG
• Hong IK
• Kim SK
• Park HK
• Kwon S
• Chung DH
• Kwon KH

Abstract

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.

Keyword

BCL2; Polymorphism; Haplotype; Thyroid cancer; Papillary

MeSH Terms

Alleles
Apoptosis
B-Lymphocytes
Factor IX
Gene Frequency
Haplotypes
Humans
Logistic Models
Odds Ratio
Polymorphism, Single Nucleotide
Thyroid Gland
Thyroid Neoplasms
Factor IX

Figure

• 

  Fig. 1 Linkage disequilibrium block consists of rs2279115 and rs1801018.

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