新疆维吾尔族人群SLC22A1基因多态性频率分布及糖尿病家族史对其突变的影响研究

发布时间：2018-10-29 17:34

【摘要】：背景转运蛋白(OCT)是近年来备受关注的药物转运体,由SLC22A1基因编码。SLC22A1基因具有显著的遗传多态性,已在多个种族中发现了多个基因突变,是引起2型糖尿病(T2DM)患者二甲双胍生物利用度差异的重要原因。目的研究新疆维吾尔族青年男性SLC22A1基因rs34059508、rs4646277位点等位基因和基因型的频率分布,以及T2DM家族史对SLC22A1基因突变的影响,为T2DM患者基因导向性二甲双胍个体化治疗提供理论依据。方法2014年9月—2015年9月,招募新疆维吾尔族男性健康志愿者276例为研究对象。采集受试者外周血5 ml,提取DNA,采用Snapshot技术平台分析受试者SLC22A1基因rs34059508、rs4646277位点等位基因、基因型频率和基因突变情况。结果 SLC22A1基因rs34059508、rs4646277位点基因频率分布符合Hardy-Weinberg遗传平衡,具有群体代表性(χ~2=0.009,P=0.976;χ~2=0.246,P=0.620)。亚洲人群、高加索人群、非裔美国人群、新疆维吾尔族人群SLC22A1基因rs34059508位点等位基因及基因型频率比较,差异有统计学意义(P0.05);其中,新疆维吾尔族人群SLC22A1基因rs34059508位点等位基因A频率低于高加索人群(P0.001)。亚洲人群、汉族人群、新疆维吾尔族人群SLC22A1基因rs4646277位点等位基因及基因型频率比较,差异有统计学意义(P0.05);其中,新疆维吾尔族人群SLC22A1基因rs4646277位点等位基因T频率高于汉族人群(P0.017)。19例有T2DM家族史者中12例(63.2%)发生SLC22A1基因突变,208例无T2DM家族史者SLC22A1基因突变率为77.9%(162/208),差异无统计学意义(χ~2=1.367,P=0.242)。结论新疆维吾尔族男性SLC22A1基因rs34059508、rs4646277位点突变率分别为0.4%、5.8%;未发现T2DM家族史对SLC22A1基因突变产生影响。
[Abstract]:Background (OCT) is a drug transporter that has attracted much attention in recent years. It is encoded by SLC22A1 gene. SLC22A1 gene has significant genetic polymorphism and has been found multiple gene mutations in many ethnic groups. It is an important reason for the difference of metformin bioavailability in type 2 diabetes mellitus (T2DM). Objective to study the frequency distribution of rs34059508,rs4646277 alleles and genotypes of SLC22A1 gene in Xinjiang Uygur young men and the influence of T2DM family history on SLC22A1 gene mutation in order to provide theoretical basis for gene oriented metformin individualized therapy in T2DM patients. Methods 276 male healthy volunteers from Xinjiang Uygur nationality were recruited from September 2014 to September 2015. DNA, was extracted from peripheral blood of 5 ml, samples from subjects. The alleles, genotype frequencies and gene mutations of SLC22A1 gene rs34059508,rs4646277 locus were analyzed by Snapshot technique. Results the frequency distribution of rs34059508,rs4646277 locus of SLC22A1 gene was in accordance with the Hardy-Weinberg genetic balance and had population representativeness (蠂 ~ 2 + 0.009 (P = 0.976); 蠂 ~ (2) = 0.246 (P ~ (0.620). The alleles and genotype frequencies of SLC22A1 gene rs34059508 locus in Asian population, Caucasian population, African American population and Xinjiang Uygur population were significantly different (P0.05). The frequency of rs34059508 allele A of SLC22A1 gene in Xinjiang Uygur population was lower than that in Caucasian population (P0. 001). The alleles and genotypic frequencies of SLC22A1 gene rs4646277 locus in Asian, Han and Xinjiang Uygur populations were significantly different (P0.05). The frequency of rs4646277 allele T of SLC22A1 gene in Xinjiang Uygur population was higher than that of Han nationality (P0.017). SLC22A1 gene mutation occurred in 12 of 19 cases (63.2%) with T2DM family history. The mutation rate of SLC22A1 gene in 208 cases without T2DM family history was 77.9% (162 / 208), and the difference was not statistically significant (蠂 ~ 2 ~ 2 ~ (1.367) P ~ (0.242). Conclusion the mutation rate of rs34059508,rs4646277 locus of SLC22A1 gene in Xinjiang Uygur males was 0.45.80.There was no influence of T2DM family history on SLC22A1 gene mutation.
【作者单位】：新疆医科大学第一附属医院;新疆医科大学研究生学院研究生管理科;新疆医科大学第一附属医院药学部;新疆医科大学校医院;新疆医科大学第一附属医院干部病房内一科;
【基金】：国家自然科学基金资助项目(81360510)
【分类号】：R587.1

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