广西壮族长寿群体白细胞端粒长度与TERC基因变异的相关性

摘要

目的：探讨广西壮族长寿群体白细胞端粒长度与端粒酶基因 hTERC 多态性的相关性。方法采用 TaqMan MGB 探针检测广西壮族长寿群体TERC基因位点（rs12696304、rs16847897和rs3772190）多态性，并与其第一代子女组及同地区普通人群即对照相比较，同时分析其与白细胞端粒长度（LTL）的相关性。结果（1）rs12696304、rs16847897及rs3772190的基因型频率在三个组间的分布无差异，P值分别为0．83、0．33和1．00；等位基因频率在三个组间也是相似的，P值分别为0．70、0．83和0．98；三个位点的最小等位基因分别是C、G和G。（2） TERC基因三个位点的不同基因型之间的LTL在总人群、长寿组及子女组均无明显差异，对照组在位点rs3772190，GA基因型LTL最长，其次为 GG基因型，AA基因型 LTL最短，P＝0．02。（3）建立LTL的多元线性回归方程，总人群中显示 LTL与年龄是明显相关的，但与 TERC 基因位点的各基因型并不相关。结论TERC基因多态性对广西壮族长寿群体LTL无明显影响。%Objective To explore the potential relationship between polymorphism of TERC and leukocyte telomere length( LTL) in Guangxi Zhuang longevity population.Methods Genotyping of TERC SNPs (rs12696304, rs16847897and rs3772190) were performed with TaqMan MGB for the members from longevity population ( longevity group, n=485) , and their polymorphism were compared with their off-spring population ( offspring group, n=627) , and controls without a familial history of exceptional longevity in the same area( control group, n=218);at the same time the possible association between TERC genotypes and LTL in three groups were evaluated.Results (1) Geno-typic frequencies of SNP rs12696304 , rs16847897 and rs3772190 between the three groups were similar ( P=0.83, 0.33 and 1.00, respec-tively);the allelic frequencies among the three groups also showed no significant difference ( P=0.70, 0.83 and 0.98, respectively);the minor alleles were C, G and G.(2) Between different genotypes of three loci of TERC, LTL showed no difference among the three groups;but in control group, the LTL of G carriers of rs3772190 (GG/GA) was significantly longer than AA genotype carriers.(3) Multiple linear regression analysis showed that LTL significantly correlated with age, but not with the genotypes of three TERC loci.Conclusions There is no obvious correlation between TERC polymorphism and LTL in Guangxi Zhuang longevity population.