Rac 1基因rs 6951997位点多态性与广西扶绥县壮族肝癌家族聚集的遗传易感性关系

Relationship between the rs 6951997 polymorphism in the Rac 1 gene and genetic susceptibility to hepatocellular carcinoma in familial clusters of liver cancer among the Zhuang people of Fusui County,Guangxi

目的探讨广西扶绥县壮族Rac 1基因rs 6951997位点多态性与肝癌家族聚集的遗传易感性关系。方法以广西扶绥县壮族20个肝癌高发家族（肝癌家族组79例）和10个健康对照家族（健康对照家族组40名）为研究对象,应用飞行时间质谱技术（MALDI-TOF MS）检测两组中Rac 1基因rs 6951997位点的基因型及等位基因频率,以非条件logistic回归分析其多态基因型与肝癌发生危险性的关系。结果肝癌家族组Rac 1基因rs 6951997位点的GT基因型的分布频率（6.30%）高于健康对照家族组（2.50%）,二者差异无统计学意义（OR=3.76,95%CI∶0.28-51.45,P=0.32）。其位点等位基因T型、G型在肝癌家族组中的分布频率分别为96.83%、3.16%,在健康对照家族组中的分布频率分别为98.75%、1.25%,两组差异均无统计学意义（P均〉0.05）。结论 Rac 1基因rs 6951997位点多态性与广西扶绥县壮族肝癌家族聚集的遗传易感性未有显著相关。

Objective To investigate the correlation between the rs 6951997 polymorphism in the gene encoding Ras-related C3 botulinum toxin substrate 1 （Rac 1 ） and familial clustering of genetic risk of primary liver cancer in the Zhuang population in Fusui County,Guangxi. Methods Genotype and allele frequencies at the rs 6951997 polymorphism were determined in 20 families（n=79 individuals ） with liver cancer and in 10 healthy control families （n=40 individuals） using time-of-flight mass spectrometry. Non-conditional logistic regression was used to identify relationships between gene polymorphisms and risk of hepatocarcinogenesis. Results The GT genotype was slightly more frequent in patients from families with liver cancer than in normal controls,but the difference did not achieve significance（OR 3.76,95%C1 0.28 to 51.45, P=0.32）. The two groups of patients presented similar frequencies of the T allele （96.83% vs 98.75%） and of the G allele （3.16% vs 1.25%）（both P〉0.05）. Conclusion The rs 6951997 polymophism in the Rac 1 gene may not be associated with family clustering of genetic susceptibility for primary liver cancer in the Zhuang population of Fusui County, Guangxi.