PDGFRA promoter polymorphisms are associated with the risk of papillary thyroid cancer.

Platelet-derived growth factor (PDGF) acts as a regulator in cancer development and progression. We investigated whether single nucleotide polymorphisms (SNPs) of platelet-derived growth factor receptor α polypeptide (PDGFRA) and platelet-derived growth factor receptor β polypeptide (PDGFRB) genes are associated with papillary thyroid cancer (PTC) in a Korean population. Two promoter SNPs (rs6554162, -1309A/G and rs1800812, -635G/T) of PDGFRA and one promoter SNP (rs3828610, -202A/C) of PDGFRB were genotyped using direct sequencing in 93 PTCs and 212 controls. Genetic data were analyzed using the SNPAnalyzer Pro, SNPStats and Haploview programs. Two promoter SNPs (rs6554162 and rs1800812) in PDGFRA revealed significant differences between PTC and controls (for rs6554162, p=0.0018 in the codominant model and p=0.0005 in the dominant model; for rs1800812, p=0.016 in the codominant model and p=0.007 in the dominant model). In the analysis of allele frequency, we also found that the A allele of rs6554162 (p=0.004) and the T allele of rs1800812 (p=0.029) were associated with PTC. Additionally, by haplotype analysis, the GG and AT haplotypes consisting of rs6554162 and rs1800812 were associated with PTC (GG, p=0.0033; AT, p=0.0270). However, rs3828610 in PDGFRB showed no significant difference between PTC and controls. The results suggest that PDGFRA promoter SNPs (rs6554162 and rs1800812) may be associated with the risk of PTC.