Association between hTERT Polymorphisms and Female Papillary Thyroid Carcinoma

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Previous genome-wide association studies identified associations between hTERT polymorphisms (rs10069690 and rs2736100) and thyroid cancer risk.
• The human telomerase reverse transcriptase (hTERT) gene plays a crucial role in cell proliferation and cancer development.

Purpose of the Study:

• To investigate the association between hTERT polymorphisms (rs10069690 and rs2736100) and the risk of papillary thyroid carcinoma (PTC).
• To explore the relationship between these hTERT polymorphisms and clinicopathologic characteristics of PTC in a Chinese female population.

Main Methods:

• Genotyping of hTERT single nucleotide polymorphisms (SNPs) rs10069690 and rs2736100 in 276 PTC patients and 345 healthy controls.
• Logistic regression analysis was employed to assess the association between SNPs, PTC risk, and clinicopathologic features.
• Haplotype analysis was conducted to evaluate combined effects of the studied SNPs.

Main Results:

• The hTERT rs10069690 polymorphism was significantly associated with increased PTC risk (OR = 1.515, P = 0.005).
• In Chinese females, both rs10069690 (OR = 1.647, P = 0.007) and rs2736100 (OR = 1.339, P = 0.041) were linked to higher PTC risk.
• Haplotypes TC and CA of TERT rs10069690-rs2736100 showed a stimulative effect on PTC risk in females. The heterozygote A/C of rs2736100 was associated with age (OR = 0.514, P = 0.047).

Conclusions:

• hTERT polymorphisms rs10069690 and rs2736100 are associated with an elevated risk of PTC in the Chinese female population.
• The rs2736100 polymorphism may be related to age in PTC patients.
• These findings suggest hTERT polymorphisms as potential molecular targets for anti-cancer therapy.