广西扶绥县壮族人群MASP1基因单核苷酸多态性与肝癌遗传易感性的关系

Relationship between single nucleotide polymorphism of MASP1 gene and genetic susceptibility to hepatocellular carcinoma among Zhuang population in Fusui County,Guangxi

目的探讨广西扶绥县壮族人群甘露聚糖结合凝集素关联丝氨酸蛋白酶(MASP)1基因rs3774268和rs17040位点单核苷酸多态性(SNP)与肝癌易感性的关系。方法在广西扶绥县壮族人群中,选择肝癌家系79例和正常对照家系(正常对照组)40例为研究对象,肝癌家系包括肝癌患者(肝癌组)20例及其直系亲属(非肝癌组)59例。采用飞行时间质谱技术检测MASP1基因rs3774268、rs17040位点的基因型和等位基因频率。采用Logistic回归模型分析MASP1基因rs3774268、rs17040位点SNP与肝癌发病风险的关系。结果MASP1基因rs3774268位点携带AA基因型6例,GG基因型79例,GA基因型34例。MASP1基因rs17040位点携带CC基因型101例,CT基因型17例,非肝癌组中有1例未能检测出rs17040位点的基因型。肝癌组与非肝癌组rs3774268和rs17040位点各基因型和等位基因频率比较,差异均无统计学意义(均P>0.05)。肝癌组与正常对照组rs3774268位点的基因型频率、rs17040位点各基因型和等位基因频率比较,差异均无统计学意义(均P>0.05);而肝癌组rs3774268位点的A等位基因频率高于正常对照组(P<0.05)。Logistic回归分析显示rs3774268位点的A等位基因与肝癌的发生相关(P<0.05)。结论MASP1基因rs3774268位点的SNP与广西扶绥县壮族人群肝癌高发家系遗传易感性存在关联,而rs17040位点的SNP与之可能无关。

Objective To explore the relationship of single nucleotide polymorphism(SNP) at locus rs3774268 or rs17040 on mannan-binding lectin-associated serine protease 1(MASP1) gene with genetic susceptibility to hepatocellular carcinoma(HCC) among Zhuang population in Fusui County,Guangxi. Methods Among Zhuang population in Fusui County,Guangxi,79 members from HCC family and 40 members from normal control family(normal control group) were selected as subjects,the HCC family was comprised of 20 patients with HCC(HCC group) and their immediate relatives(non-HCC group, n =59).The frequencies of genotype and allele at MASP1 gene loci rs3774268 and rs17040 were detected using time-of-flight mass spectrometry.Logistic regression model was adopted to analyze the relationship of SNP at MASP1 gene locus rs3774268 or rs17040 with risk of developing HCC. Results Six cases, 79 cases and 34 cases carried genotypes AA,GG and GA at MASP1 gene locus rs3774268,respectively.Totally 101 cases and 17 cases carried genotypes CC and CT at MASP1 gene locus rs17040,respectively,the non-HCC group reported one case without any genotype detected at locus rs17040.As for locus rs3774268 or rs17040,there was no statistically significant difference in frequency of any genotype or allele between the HCC group and the non-HCC group(all P >0.05).No statistically significant difference was found between the HCC group and the normal control group in frequency of genotype at locus rs3774268,or frequency of any genotype or allele at locus rs17040(all P >0.05);moreover,the frequency of allele A at locus rs3774268 in the HCC group was higher than that in the normal control group( P <0.05).Logistic regression analysis revealed that allele A at locus rs3774268 correlated with the incidence of HCC( P <0.05). Conclusion For Zhuang population in Fusui County,Guangxi,genetic susceptibility to HCC in high-risk families is linked to SNP at MASP1 gene locus rs3774268,but might not correlate with SNP at locus rs17040.