蒙古族及傣族中9p21上多态位点rs4977574与高血压的关联性研究

Association study between hypertension and rs4977574 on 9p21 in Mongolian and Dai population

目的对冠心病全基因组关联分析发现,在9号染色体上存在一个新的与冠心病高度相关的区域9p21。鉴于高血压与冠心病的紧密联系,而且有关9p21与高血压的关联性还未见报道,本研究选择了在亚洲群体中频率较高,并与冠心病紧密关联的一个多态位点rs4977574,在蒙古族和傣族高血压群体中进行关联分析。方法应用聚合酶链反应-限制性片段长度多态分型技术对165例蒙古族高血压病人和166例正常对照以及傣族高血压病人447例,正常对照415例的rs4977574位点的基因进行检测分析。结果在傣族群体中该SNP位点与高血压发生无关联性,但在蒙古族群体中该位点与高血压发生相关(P=0.032),并可能为显性模式。经过校正年龄及BMI等参数后,在蒙古族中其显性等位基因(GG+GA)的OR值为0.574(95%CI:0.344～0.959,P=0.034),提示这一显性等位基因型可能为高血压的保护因素。结论蒙古族群体中9p21上的位点可能和高血压的发生是相关的,不同的群体中高血压的发生可能存在不同的遗传易感因素,9p21与高血压发生的相互关系值得进一步研究。

Objective： Genome-wide association studies have identified variants on chromosome 9p21 that are associated with coronary heart disease.The correlation between these variants and hypertension is less reported.The aim of this study was to explore the relationship between the SNP polymorphism（rs4977574） on 9p21 and hypertension in Mongolian and Dai people.Methods： The genotypes of rs4977574 were detected by using PCR-RFLP in 165 Mongolian individuals with hypertension and 166 Mongolian healthy controls,also in 447 Dai hypertension individuals and 415 Dai healthy controls.Results： This SNP（rs4977574） is not associated with incidence of hypertension in Dai ethnic group,but it′s associated with hypertension in Mongolian ethnic group at P=0.032.The genotypes of rs4977574 show a dominant mode for the incidence of hypertension.The Odd Ratio of dominant genotype（GG＋GA） is 0.574（95%CI： 0.344~0.959,P=0.034） in Mongolian.Therefore,this dominant genotype may be a protective factor for hypertension.Conclusion： The 9p21 may be associated with incidence of hypertension in Mongolian.Our results suggested that different populations may have different genetic susceptibility to hypertension,and the association between 9p21 and hypertension deserves further investigation.