中国山西汉族人群rs5888及rs1207568位点单核苷酸多态性与脑梗死合并糖尿病易感性的关系

Relationships between SCARB1 gene rs5888 and Klotho gene rs1207568 single nucleotide polymorphisms and susceptibility to cerebral infarction complicated with DM in Han population of Shanxi province in China

目的研究中国山西汉族人群SCARB1基因rs5888位点及Klotho基因rs1207568位点单核苷酸多态性与脑梗死合并糖尿病易感性的关系,为脑梗死发病分子机制的进一步研究提供科学依据。方法首先通过生物信息学的手段分析SCARB1和Klotho基因及蛋白质组学信息。选择49例被确诊脑梗死合并糖尿病的患者、52例被确诊为患有脑梗死的患者及39例被确诊患有糖尿病的患者为研究对象,并选择33例无脑梗死和糖尿病的受试者为对照组。经测序分析确定各组受试者的SCARB1基因rs5888位点及Klotho基因rs1207568位点的基因型,并对其结果进行统计分析。结果SCARB1及Klotho基因的生物信息学预测结果和文献报道的蛋白性质一致。测序结果表明SCARB1基因及Klotho基因分别存在rs5888及rs1207568位点上的基因多态性。Klotho rs1207568不同基因型间临床参数比较,除脑梗死合并糖尿病组尿酸(UA)和单纯性糖尿病组甘油三酯(TG)差异有统计学意义(P<0.05)外,其他临床参数的差异均没有统计学意义(P>0.05)。SCARB1 rs5888 CC和CT/TT基因型病例的临床参数间比较,只有单纯性糖尿病组两种基因型的病例之间活化部分凝血活酶时间(APTT)差异有统计学意义(P<0.05),其他临床参数的差异均没有统计学意义(P>0.05)。脑梗死合并糖尿病患者组SCARB1 rs5888的CT/TT频率明显高于对照组,但CC频率低于对照组(P<0.05)。各组间在Klotho rs1207568中的CT/TT和CC频率差异无统计学意义(P>0.05)。结论SCARB1基因rs5888及Klotho基因rs1207568单核苷酸多态性可能是评估脑梗死合并糖尿病易感性的重要分子标志物。

Objective To study the relationships between SCARB1 gene rs5888 locus and Klotho gene rs1207568 locus single nucleotide polymorphisms and susceptibility to cerebral infarction complicated with diabetes mellitus(DM)in Han population of Shanxi in China,which will provide a reasonable scientific basis for the further study of the molecular mechanism of cerebral infarction in Chinese Han population.Methods SCARB1 and klotho genes and proteomics information were analyzed by means of bioinformatics technique.A total of 49 patients with cerebral infarction and DM,52 patients with cerebral infarction and 39 patients with DM were selected as the study subjects,and 33 subjects without cerebral infarction and DM were selected as the controls.The genotypes of SCARB1 gene rs5888 locus and Klotho gene rs1207568 locus were determined by sequencing analysis,and the results were statistically analyzed.Results The bioinformatics prediction results of SCARB1 and Klotho genes were consistent with the protein properties reported in literature,which provided a basis for the further gene polymorphism analysis.Sequencing results showed that SCARB1 gene and Klotho gene had gene polymorphisms at rs5888 and rs1207568,respectively.The clinical parameters of in patients with different genotypes of Klotho rs1207568 were not significantly different(P>0.05),except UA in cerebral infarction combined with diabetes patients and TG in simple diabetes patients(P<0.05).Except APTT was significantly different between SCARB1 rs5888 CC and CT/TT in simple diabetes patients(P<0.05),there was no significant difference in the other clinical parameters between different genotypes(P>0.05).The CT/TT frequency of SCARB1 rs5888 in patients with cerebral infarction and diabetes mellitus was significantly higher than that in controls,but the CC frequency was lower than that in controls(P<0.05).There was no significant difference in CT/TT and CC frequencies in Klotho rs1207568 among groups(P>0.05).Conclusion SCARB1 gene rs5888 and Klotho gene rs1207568 single nucleotide polymorphism may be important molecular markers for assessing the susceptibility of cerebral infarction complicated with DM.