1.Correlation of EGFR Gene Polymorphisms with Non-small Cell Lung Cancer in Yunnan Han Population
Yingfu LI ; Ni GUO ; Zhengguang LUO ; Anhao XING ; Taifu LI ; Qianli MA
Journal of Kunming Medical University 2025;46(4):99-108
Objective To investigate the correlation between the epidermal growth factor receptor(EGFR)gene polymorphisms and non-small cell lung cancer(NSCLC)in Yunnan Han population.Methods A total of 407 NSCLC patients and 526 healthy controls were included.Five SNPs(rs1050171,rs2072454,rs2227983,rs1140475 and rs2293347)in EGFR were genotyped using TaqMan assay.The association between SNPs and NSCLC,as well as pathological types,were analyzed.Results In dominant mode,rs2072454 C/T-T/T may be a risk factor for NSCLC(P=0.004;OR=1.50,95%CI 1.14~1.96).There was a significant difference in genotype frequency between the SCC group and the control group(P=0.007),but no difference in allele frequency after Bonferroni correction(P>0.01);In the dominant mode,C/T-T/T at this locus relative to C/C was a risk for AC(P=0.002;OR=1.86,95%CI 1.24~2.80).rs1050171 A/A had a significantly higher risk of SCC in recessive mode(P=0.006,OR=2.66,95%CI 1.33~5.33).In dominant mode,rs2227983 A/G-G/G/G was a risk factor for the development of SCC relative to A/A(P=0.007;OR=1.83,95%CI 1.15~2.89).Conclusion The SNPs rs2072454,rs1050171 and rs2227983 in EGFR gene may be associated with the risk of NSCLC development as well as the type of pathology in Yunnan Han population.
2.Association of Polymorphisms in the 3'UTR of Genes in the ERK1/2 Signaling Pathway with Non-small Cell Lung Cancer
Chao HONG ; Xudong XIANG ; Yingfu LI ; Yang CAO ; Xueya CHEN ; Shuai LI ; Anhao XING ; Mu LIN ; Qianli MA
Journal of Kunming Medical University 2024;45(3):7-17
Objective To investigate the association between four single nucleotide polymorphisms(SNP)(rs9340 in MAPK1,rs14804 in NRAS,rs712 and rs7973450 in KRAS)in the 3'UTR of ERK1/2 signaling pathway-related genes and non-small cell lung cancer(NSCLC).Methods A total of 478 NSCLC patients and 480 healthy controls were enrolled in this study.Four SNPs were genotyped by using TaqMan assays.The association between the four SNPs and NSCLC was analyzed.Results The distribution frequency difference of the allele of rs9340 was statistically significant between the control group and the non-small cell squamous cell carcinoma(SCC)group(P = 0.009),suggesting that the G allele of rs9340 may be a protective factor for non-small cell lung squamous cell carcinoma(OR = 0.67,95%CI:0.50~0.91).In addition,in the<50 years age group,the distribution frequency difference of the allele of rs9340 was statistically significant between the control group and the NSCLC group(P = 5.07×10-4),indicating that the G allele of rs9340 may be a protective factor for NSCLC(OR = 0.46,95%CI:0.29~0.72).Conclusion The SNP rs9340 in MAPK1 may be associated with the risk of NSCLC.

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