老年人群Klotho基因多态性与其代谢综合征相关性研究

Correlation between single nucleotide polymorphisms of Klotho gene and metabolic syndrome in the aged

目的:研究老年汉族人群Klotho(KL)G-395A、F352V和C370S基因多态性与老年人群代谢综合征(Metabolic syndrome,MS)的相关性。方法:同期选择老年(年龄≥60岁)MS病人329例,正常健康老年人321例作为研究对象。采用等位基因特异性引物PCR技术(SASP-PCR)检测Klotho(KL,克老素)基因多态性,并分析其等位基因频率分布与MS的相关性。结果:老年人群MS病组KL基因G-395A SNP AA等位基因频率较正常对照组增高,但无显著性差异(P>0.05),而按性别分层研究,MS组无论男、女性患者其AA等位基因型频率虽较正常对照组明显增高也无显著性差异(P>0.05);MS组KL基因F352V SNP VV等位基因型频率较正常对照组低(P=0.053),但性别分层研究,其差异未达到统计学意义;MS组KL基因C370S SNP CS基因型频率较正常对照组低(P<0.05),若按性别分层研究,MS组男性患者KL基因C370S SNP CS杂合子及SS纯合子基因型频率较正常对照组低(P<0.05)。结论:本文研究发现在老年人群KL基因F352V SNP VV突变基因型可能与MS有相关性,同时KL基因C370S SNP突变基因型男性携带者不易患MS。

Objective：To investigate the correlation between the distribution of three single nucleotide polymorphisms（SNPs） of Klotho（KL） G-395A,F352V and C370S in the Klotho（KL） gene and metabolic syndrome（MS） in the elderly Han population.Methods：Totally 329 patients（aged≥60） with MS and 321 healthy people were enrolled.The single allele specific prime PCR（SASP-PCR） technique was used to detect three sites of SNPs and the distribution frequencies of allelic genotypes of the KL gene in order to analyze their relationship with MS in the aged.Results： The frequency of allele AA genotype of KL G-395A in MS group was higher than that in the control group but without any significant difference（P0.05）.According to sex stratification analysis,no significant difference in the frequency of allele AA was found either in the female subgroup or the male subgroup between the MS group and the control subgroup（P0.05）.The frequency of allele VV genotype of KL F352V in MS group was higher than that in the control group（P=0.053）,but no significant difference of the frequency of allele VV of KL F352V was found either in the female or male subgroup between MS group and the control group according to sex stratification analysis.The frequency of allele CS genotype of KL C370S SNP in MS group was lower than that in the control group（P0.05）.According to sex stratification analysis,the frequency of allele CS and SS in the MS male subgroup was obviously lower than that in the control subgroup（P0.05）.Conclusion：Correlation between VV mutant genotype of KL F352V SNP and metabolic syndrome in the elderly people may be existed and the males who carried mutant genotypes of KL C370S SNP have a low risk in suffering from MS.