Background: A previous genome-wide association study showed that hTERT rs10069690
and rs2736100 polymorphisms were associated with thyroid cancer risk.
Objective: This study further investigated the association between increased risk and clinicopathologic
characteristics for Papillary Thyroid Carcinoma (PTC) and hTERT polymorphisms rs10069690 or
rs2736100 in a Chinese female population.
Methods: The hTERT genotypes of 276 PTC patients and 345 healthy subjects were determined with
regard to SNPs rs10069690 and rs2736100. The association between these SNPs and the risk of PTC
and clinicopathologic characteristics was investigated by logistic regression.
Results: We found a significant difference between PTC and rs10069690 (Odds Ratio (OR) = 1.515; P
= 0.005), but not between PTC and rs2736100. When the analysis was limited to females, rs10069690
and rs2736100 were both associated with increased risk for PTC in female individuals (OR = 1.647, P
= 0.007; OR = 1.339, P = 0.041, respectively). Further haplotype analysis revealed a stimulative effect
of haplotypes TC and CA of TERT rs10069690-rs2736100, which increased risk for PTC in female
individuals (OR = 1.579, P = 0.014; OR = 0.726, P = 0.025, respectively). Furthermore, the heterozygote
A/C of rs2736100 showed significant difference for age (OR = 0.514, P = 0.047).
Conclusion: Our finding suggests that hTERT polymorphisms rs10069690 and rs2736100 are associated
with increased risk for PTC in Chinese female population and rs2736100 may be related to age.
Consistent with US20170360914 and US20170232075, they are expected to be a potential molecular
target for anti-cancer therapy.