肉碱棕榈酰转移酶1A基因多态性与肝细胞癌风险的相关性研究

The correlation between carnitine palmitoyl transferase 1 A gene polymorphisms and risk of hepatocellular carcinoma

目的探讨肉碱棕榈酰转移酶1A(CPT1A)基因多态性与肝细胞癌(HCC)风险的相关性。方法收集2022年3月至2023年3月中国人民解放军空军军医大学第一附属医院收治的HCC患者350例(病例组),选取同期来院体检的健康志愿者350例设为对照组。对两组样本在MassArray平台对rs80356779、rs3019594和rs28461943个单核苷酸多态性(SNP)位点进行基因分型并进行统计分析。结果rs80356779的最小等位基因A与HCC患病风险升高显著相关(P<0.05)。rs80356779和rs3019594位点的基因型频率分布在两组中差异有统计学意义(P<0.05)。rs80356779在显性和加性模型下分别增加了2.17和2.03倍的HCC患病风险(P<0.05),而rs3019594在隐形和加性模型下HCC的患病风险升高1.92和1.36倍(P<0.05)。结论CPT1A基因多态性与HCC患病风险相关,提示rs80356779和rs3019594突变可作为HCC易感人群筛查的潜在位点。

Objective To explore the correlation between carnitine palmitoyl transferase 1A(CPT1A)gene polymorphism and the risk of liver cancer.Methods Three SNPS,rs80356779,rs3019594 and rs2846194,were genotyped and statistically analyzed using MassArray platform in a case-control cohort including 350 patients with hepatocellular carcinoma(HCC)and 350 healthy controls.Results The minimum allele A of rs80356779 was significantly associated with an increased risk of HCC(P<0.05).The genotype frequency distribution of rs80356779 and rs3019594 loci showed statistically significant differences between the two groups(P<0.05).In addition,rs80356779 increased the risk of HCC by 2.17 and 2.03 times in explicit and additive models,respectively(P<0.05),while rs3019594 increased the risk of HCC by 1.92 and 1.36 times in implicit and additive models(P<0.05).Conclusions CPT1A gene polymorphism is correlated with the risk of HCC,suggesting that rs80356779 and rs3019594 mutations can be used as potential screening sites for HCC susceptible populations.