广西红水河流域长寿群体Smyca基因多态性分布及其对代谢危险因素的影响  

Distribution of Smyca gene polymorphism and its effect on metabolic risk factors in longevity population in Hongshui River basin of Guangxi

作　　者：崔晨曦 陈宁园 黄玲 张义炜 张书铭 彭均华 潘尚领 Cui Chenxi;Chen Ningyuan;Huang Ling;Zhang Yiwei;Zhang Shuming;Peng Junhua;Pan Shangling(Department of Pathophysiology,School of Basic Medical Sciences,Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学基础医学院病理生理学教研室,南宁530021

出　　处：《广西医科大学学报》2023年第6期1042-1047,共6页Journal of Guangxi Medical University

基　　金：国家自然科学基金项目(No.81960266)。

摘　　要：目的:探究广西红水河流域长寿人群Smyca基因多态性的分布情况及其对衰老相关代谢指标的影响。方法:使用PCRSanger测序法对广西红水河流域长寿老人95例(长寿组,年龄≥90岁)及当地普通健康老人94例(对照组,年龄60~75岁)的Smyca基因进行多态性检测,使用Haploview分析单倍型的连锁不平衡(LD),并采用Pearson相关性分析方法来分析单倍体携带情况及长寿风险评估。结果:在Smyca基因中共检测出9个多态,其中长寿组rs2594713 AA基因型及等位基因A的频率显著低于对照组,CC基因型及等位基因C的频率则高于对照组(均P<0.05),其他基因型与等位基因频率在两组间的分布无明显差异(P>0.05)。3个单核苷酸多态性(SNPs);rs2594713、rs7255672和rs62122064位点之间存在较高的LD;长寿组ATA单倍型频率低于对照组(P<0.05);在长寿人群中,rs2594713、rs7255672和rs62122064位点的野生纯合型携带者甘油三酯(TG)及载脂蛋白B(ApoB)水平均低于突变型携带者(均P<0.05),其他代谢指标在野生纯合型及突变型之间无显著差异(P>0.05)。结论:Smyca某些多态位点的基因型与代谢相关指标存在明显关联,并且Smyca基因的3个SNPs位点之间存在着有遗传意义的单倍型和LD关系,并且单倍型ATA可能会降低长寿的概率。Objective:To investigate the distribution of Smyca gene polymorphism and its effect on metabolic indicators related to aging in longevity population in Hongshui River basin of Guangxi.Methods:PCR-Sanger sequencing method was used to detect Smyca gene polymorphism in 95 long-lived elderly(longevity group,age≥90 years old)and 94 local healthy elderly(control group,age 60-75 years old)in Hongshui River basin of Guangxi.Haploview analysis was used to analyze the linkage disequilibrium(LD)of haplotypes,and the haploid carrying status and longevity risk assessment was analyzed by Pearson correlation analysis.Results:Nine polymorphisms were detected in Smyca gene.The frequencies of rs2594713 AA genotype and allele A in the longevity group were significantly lower than those in the control group,while the frequencies of CC genotype and allele C in the longevity group were higher than those in the control group(both P<0.05).There were no significant differences in the distribution of other genotypes and alleles between the two groups(P>0.05).High LD was observed among the loci of three single nucleotide polymorphisms(SNPs),namely rs2594713,rs7255672 and rs62122064;ATA haplotype frequency in the longevity group was lower than that in the control group(P<0.05);in the longevity population,carriers of the wild homozygous type of rs2594713,rs7255672 and rs62122064 had lower triglyceride(TG)and apolipoprotein B(ApoB)levels compared to carriers of the mutant type(both P<0.05),and there were no significant differences in other metabolic indicators between the wild-type purification and the mutant type(P>0.05).Conclusion:The genotypes of some polymorphic loci of Smyca are significantly correlated with metabolic indicators.Moreover,there are genetically meaningful haplo-types and LD relationships among the three SNPs loci of Smyca gene,and the haplotype ATA may reduce the probability of longevity.

关 键 词：长寿 衰老 基因多态性 代谢相关指标 

分 类 号：R343.1[医药卫生—基础医学]