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Lower Allele Frequency of TERT-rs2242652 in Sub-Saharan African Populations Compared With American Populations and

Perapa Chotiprasidhi1, Viviana P Gonzalez Umpierre1,2, Yvonne Ayerki Nartey3

  • 1Department of Medicine, Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN.

JCO Global Oncology
|March 31, 2026
PubMed

Insights

The TERT-rs2242652 genetic variant, linked to lower hepatocellular carcinoma (HCC) risk, was less frequent in sub-Saharan African populations compared to US populations. This finding highlights ethnic differences in HCC genetic predisposition.

Area of Science:

  • Genetics
  • Oncology
  • Population Health

Background:

  • Hepatocellular carcinoma (HCC) is a significant global health concern, ranking as the third leading cause of cancer mortality worldwide.
  • Sub-Saharan Africa exhibits a higher incidence and earlier onset of HCC, suggesting a potential genetic component influencing susceptibility.
  • The TERT-rs2242652 variant has been previously associated with a reduced risk of HCC.

Purpose of the Study:

  • To investigate the association of the TERT-rs2242652 variant with HCC risk in populations from Ghana, Nigeria, and Cameroon.
  • To compare the frequency of this putatively protective allele between sub-Saharan African populations and a United States cohort.

Main Methods:

  • Whole-exome sequencing of germline DNA was performed on 537 HCC patients and 2,872 cancer-free controls across the US, Ghana, Nigeria, and Cameroon.
  • TERT-rs2242652 allele frequencies were analyzed using unconditional logistic regression and chi-square tests.
  • Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the association with HCC risk.

Main Results:

  • In the US cohort, TERT-rs2242652 was significantly associated with lower HCC risk (OR, 0.75; P = .02).
  • No significant association was found in the combined sub-Saharan African population, though a trend towards decreased risk was observed (OR, 0.80; P = .29).
  • The frequency of the protective TERT-rs2242652 allele was significantly lower in combined African populations (12.2%) compared to the US cohort (18.8%; P < .0001).

Conclusions:

  • Sub-Saharan African populations exhibit a lower frequency of the HCC-protective TERT-rs2242652 allele compared to European Americans.
  • These findings emphasize the critical need for multiethnic genetic studies to elucidate population-specific differences in HCC risk.
  • Understanding these genetic disparities is essential for developing targeted HCC prevention and management strategies.
Abstract

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