基于广东地区汉族人群的TM4SF4基因与胆结石的遗传学关联研究

Genetic association between TM4SF4 and gallstone: a case-control study based on Guangdong Han populations

目的探讨基于广东地区汉族人群TM4SF4基因与胆囊结石的遗传关联性。方法基于广东地区汉族群体的580名胆结石患者和1140名健康对照,调查覆盖整个TM4SF4基因区域的12个单核苷酸多态性位点(SNP)基因型在胆结石病例和健康对照组中的分布情况,从而对其遗传学关联性进行分析。结果在我们所选择的12个SNP中,只有rs9843304位点与胆结石的疾病状态的关联具有统计学意义(OR=1.27,P=0.001)。rs9843304位点的C等位基因可以显著的提高胆结石在人群中的发病危险度。而随后针对4种血脂指标与rs9843304位点的关联分析则并未获得具有统计学意义的结果。结论rs9843304位点对于广东地区汉族人群胆结石疾病的影响可能是独立的遗传学因素。

Objective To explore the genetic association between gene TM4SF4 and gallstones in Guangdong Han population.Methods In this study,we aimed to investigate potential genetic association between 12 selected SNPs of TM4SF4 and disease status of gallstone in 580 gallstone patients and 1140 healthy controls.Results Among the 12 selected SNPs,only one SNP,rs9843304 was identified to be significantly associated with gallstone status(OR=1.27,P=0.001).The C allele of rs9843304 was found to be contributed to the risk of gallstone in this population.In addition,no significant association between rs9843304 and relevant blood lipids indicators could be identified.Conclusion These findings indicated that the effect of rs9843304 on gallstone might be independent from the blood lipids levels.