Jasmina Obradovic1* and Vladimir Jurisic2
1Institute for Information Technologies Kragujevac, University of Kragujevac
2Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Republic of Serbia
jasmina.obradovic [at] uni.kg.ac.rs
Abstract
This study investigated the genotype and allele distributions in males and females of two epidermal growth factor receptor (EGFR) gene polymorphisms related to non-small cell cancer (NSCLC) risk, rs712829 and rs712830, across East Asian (EAS), European (EUR), and Serbian (SRB) populations. We analysed genotype and allele frequencies for two polymorphisms using data from the 1000 Genomes Project (EAS and EUR populations) and data from a cohort of healthy Serbian volunteers (53) from our previous study, stratified by gender. Chi-squared test or Fisher’s exact test were applied. The analyses were performed with R software, version 4.5.1 (R Core Team, 2025) (tidyverse, janitor, readr, openxlsx, ggplot2). All examined populations had the highest frequencies of the wild-type homozygotes (G/G and C/C) for both polymorphisms in males and females. Gender-related genotype and allele distributions of EGFR rs712829 and rs712830 significantly differ between East Asian and European populations (all p-values < 0.01). Frequencies of the T allele rs712829, in EAS population were lower in males and females (5,3%; 6,3%), than in EUR population 32,5% males, and 30,6% females. There were no statistical differences for individual populations in genotype and allele distributions. In the Serbian cohort, distribution of alleles and genotypes corresponded well to their distribution in the European population. Frequencies of the A allele rs712830, in EUR population in males and females were 13,9% and 12,9%, interestingly there was no this allele in EAS population. These findings highlight the importance of considering sex and ethnicity in genetic studies related to EGFR and lung cancer.
Keywords: EGFR, polymorphism, rs712829, rs712830
Acknowledgement: This work was supported by the Ministry of Science, Technological Development and Innovation, Republic of Serbia, Agreements No. 451-03-33/2026-03/200378 and 451-03-34/2026-03/200111.