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

  • 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: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。

     

    Abstract: 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 rs62 122064; 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 haplotypes and LD relationships among the three SNPs loci of Smyca gene, and the haplotype ATA may reduce the probability of longevity.

     

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