| Summary: | <p>Abstract</p> <p>Background</p> <p>Polymorphisms in Epidermal Growth Factor Receptor (<it>EGFR</it>) gene may influence EGFR production and/or activity, thereby modulating susceptibility to lung cancer. To test this hypothesis, we investigated the association between polymorphisms in the <it>EGFR </it>gene and the risk of lung cancer in a Korean population.</p> <p>Methods</p> <p>We first examined the frequencies of 39 candidate polymorphisms in the <it>EGFR </it>gene in 27 healthy Korean individuals. After then, we genotyped five polymorphisms (127378C>T, 142285G>A, 162093G>A, 181946C>T and 187114T>C) that have variant allele frequencies greater than 10%, in 582 lung cancer patients and in 582 healthy controls.</p> <p>Results</p> <p>Of the 5 polymorphisms, the 181946C>T genotype distribution was significantly different between the cases and controls (<it>P </it>= 0.04). Compared with the 181946 CC + CT genotype, the 181946 TT genotype was associated with a significantly decreased risk of lung cancer (adjusted OR = 0.63, 95% CI = 0.45–0.88, <it>P </it>= 0.007). When the analyses were stratified by smoking status, the protective effect of the TT genotype was statistically significant in ever-smokers (adjusted OR = 0.59, 95% CI = 0.41–0.86, <it>P </it>= 0.007), but not in never-smokers (adjusted OR = 0.89, 95% CI = 0.45–1.75, <it>P </it>= 0.73; <it>P </it>= 0.08, test for homogeneity). Consistent with the results of the genotyping analysis, the CGGCT haplotype with the 181946C allele was associated with a significantly increased risk of lung cancer compared to the CGGTT haplotype carrying the 181946T allele (adjusted OR = 1.50, 95% CI = 1.09–2.07, <it>P </it>= 0.012 and Bonferroni corrected <it>P</it>-value = 0.048).</p> <p>Conclusion</p> <p>These results suggest that the <it>EGFR </it>polymorphisms, particularly the 181945C>T polymorphism, could be used as markers for the genetic susceptibility to lung cancer.</p>
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