滇南地区人群溶质载体有机阴离子转运蛋白家族1b1和载脂蛋白E基因分析

Analysis of solute carrier organic anion transporter family member 1b1 and apolipoprotein E genes in a population from southern Yunnan

目的分析滇南地区人群溶质载体有机阴离子转运蛋白家族1b1(SLCO1B1)和载脂蛋白E(ApoE)基因分布情况。方法回顾性分析云南省滇南中心医院(红河哈尼族彝族自治州第一人民医院)2019年5月至2020年6月诊治的患者104例的资料,分析SLCO1B1和ApoE基因分布情况,分析其与民族、性别及年龄的关系,并与其他地区进行比较。结果滇南地区人群SLCO1B1基因的5种表型*1a/*1a、*1a/*1b、*1b/*1b、*1a/*15、*1b/*15所占比例分别为4.81%、32.69%、42.31%、12.50%、7.69%,未检测到*1a/*5、*5/*5、*5/*15和*15/*15,携带SLCO1B1正常代谢型占79.81%,中间代谢型占20.19%,未检测到弱代谢型。滇南地区人群ApoE基因的5种表型E2/E2、E2/E3、E3/E3、E3/E4、E4/E4所占比例分别为0.96%、16.35%、70.19%、11.54%、0.96%,未检测到E2/E4基因,ApoE保护型基因、正常型基因及风险型基因的人群占比分别为17.31%、70.19%及12.50%。SLCO1B1和ApoE基因的多态性位点突变频率观察值符合Hardy-Weinberg遗传平衡(P>0.05),具有恒定性及群体代表性。使用Fisher检验发现,滇南地区人群少数民族与汉族SLCO1B1基因分布差异有统计学意义(P=0.013),不同性别及不同年龄的SLCO1B1基因分布差异无统计学意义(P>0.05),少数民族与汉族、不同性别及不同年龄的ApoE基因分布差异均无统计学意义(均P>0.05)。结论滇南地区人群SLCO1B1基因与民族有关,与性别及年龄无关;ApoE基因与民族、性别及年龄无关。

Objective To analyze the distribution of solute carrier organic anion transporter family member 1b1(SLCO1B1)and apolipoprotein E(ApoE)genes in a population from southern Yunnan.Methods The data of 104 patients who received treatment in Southern Central Hospital of Yunnan Province(The First People's Hospital of Honghe State)between May 2019 and June 2020 were collected.The distribution of SLCO1B1 and ApoE genes and their relationship with nationality,sex,and age were analyzed and compared between different regions.Results The percentage of patients carrying*1a/*1a,*1a/*1b,*1b/*1b,*1a/*15,*1b/*15,five phenotypes of SLCO1B1 gene,in the population from southern Yunnan was 4.81%,32.69%,42.31%,12.50%and 7.69%respectively.Phenotypes*1a/*5,*5/*5,*5/*15 and*15/*15 were not detected.Normal metabolic phenotype of SLCO1B1 accounted for 79.81%,and intermediate metabolic phenotype of SLCO1B1 accounted for 20.19%.Weak metabolic phenotype was not detected.The percentage of patients carrying E2/E2,E2/E3,E3/E3,E3/E4,E4/E4,five phenotypes of ApoE gene in the population from southern Yunnan was 0.96%,16.35%,70.19%,11.54%and 0.96%respectively.E2/E4 phenotype was not detected.The percentage of patients with ApoE protective phenotype,ApoE normal phenotype,and ApoE risk phenotype was 17.31%,70.19%and 12.50%respectively.The observed polymorphism mutation frequency of SLCO1B1 and ApoE genes was consistent with the Hardy-Weinberg equilibrium(P>0.05),suggesting constancy and a population representation.The Fisher test showed that SLCO1B1 gene distribution differed significantly between ethnic minorities and Han nationality in southern Yunnan(P=0.013).There was no significant difference in SLCO1B1 gene distribution between different sexes and between different ages(all P>0.05).There was no significant difference in ApoE gene distribution between ethnic minorities and Han nationality,between different sexes,and between different ages in the population from southern Yunnan(all P>0.05).Conclusion SLCO1B1 gene distribution is related to nationality in the population from southern Yunnan,but it is unrelated to sex and age.ApoE gene distribution is unrelated to nationality,sex and age.