GHR基因单核苷酸多态性与广西肝癌家系遗传易感性的研究

目的 探讨生长激素受体（growth hormone receptor，GHR）基因单核苷酸多态性（single nucleotide polymorphism，SNP）与广西扶绥县肝癌家系遗传易感性的关系。方法 选取广西扶绥县25个肝癌家系和17个健康对照家系人群为研究对象，其中肝癌家系肝癌患者25例（肝癌家系肝癌组）、非肝癌者81名（肝癌家系非肝癌组）；健康对照家系80名（对照组）。采用飞行时间质谱技术检测GHR基因rs6451620位点基因型及等位基因分布频率，非条件logistic回归模型分析rs6451620位点多态性与肝癌遗传易感性的关系。结果 GHR基因rs6451620位点存在G和A两种等位基因，AA、GA、GG 3种基因型。GHR基因rs6451620位点基因型频率符合遗传平衡。GHR基因rs6451620位点等位基因G和A在肝癌家系肝癌组中的分布频率分别为64%和36%，肝癌家系非肝癌组为60.5%和39.5%，对照组为70.6%和29.4%。以肝癌家系肝癌组和非肝癌组人群为研究对象时，携带A等位基因型的个体发生肝癌的风险是G等位基因型个体的0.81倍（95%CI：0.27～2.41，P=0.699），以肝癌家系肝癌组和健康对照人群为研究对象时，携带A等位基因型个体发生肝癌的风险是G等位基因型个体的1.49倍（95%CI：0.73～3.04，P=0.274）。结论 GHR基因rs6451620位点单核苷酸多态性与广西肝癌家系遗传易感性无明显相关性。

Relationships between polymorphism in the growth hormone receptor gene and risk of hepatocellular carcinoma in families of Fusui County,Guangxi

Objective To investigate the relationship between single-nucleotide polymorphism in the grown hormone receptor （GHR） gene and risk of hepatocellular carcinoma （HCC） in pedigrees with liver cancer in Fusui County，Guangxi. Methods A total of 25 families showing high incidence of liver cancer （106 cases） served as a case group，while 17 healthy families （80 people） served as controls. The GHR gene was genotyped at the locus rs6451620，and allele frequency distribution was determined using time-of-flight mass spectrometry. Logistic regression was used to explore possible relationships between polymorphism at this locus and genetic susceptibility to hepatocellular carcinoma. Results Two alleles A and G and three genotypes AA，GA and GG were identified at the locus rs6451620. Genotype frequency was in accordance with genetic balance and was representative of the Zhuang population in Guangxi. Allele frequency at rs6451620 was 36% for A and 64% for G among HCC patients；the corresponding frequencies among controls were 29.4% and 70.6%. Risk of HCC was 0.81 times higher among individuals with the A allele at rs6451620 than among individuals with the G allele （95%CI：0.27-2.41，P=0.699）. Relative to the normal control group，risk of liver cancer was1.49 times higher among cases with an A allele than among those with a G allele （95% CI：0.73-3.04，P=0.274）. Conclusions Polymorphism at locus rs6451620 in the GHR gene is no associated with risk of HCC in Fusui county，Guangxi.