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目的探讨胰岛素样生长因子1受体(IGF-1R)基因G3174A位点多态性与广西巴马长寿现象的相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对广西巴马长寿地区187名长寿老人(年龄90～110岁,长寿组)、该地区224名与长寿老人无血缘关系的健康成年人(年龄24～79岁,内对照组)以及一般地区187名健康成年人(年龄21～79岁,外对照组)的IGF-1R基因进行基因分型,并用直接测序法进行验证。比较长寿组与各对照组的基因型和等位基因频率的差异。结果长寿组GG、GA和AA三种基因型频率分别为41.2%,45.4%和13.4%;G和A等位基因频率分别为63.9%和36.1%。长寿组GA、AA基因型频率高于内对照组,差异有统计学意义(P<0.05);长寿组与外对照组的GA、AA基因型频率比较,差异无统计学意义。长寿组A等位基因频率及携带A等位基因的个体(IGF-1R A+)所占构成比均高于内对照组、外对照组,差异有统计学意义(P<0.05)。长寿组男性的GA、AA基因型频率高于内对照组,A等位基因频率均高于内、外对照组,差异均有统计学意义(P<0.05)。长寿组女性的GG、GA、AA基因型频率和G、A等位基因频率与内、外对照组比较,差异均无统计学意义。与内、外对照组比较,长寿组GA、AA和GA+AA基因型的OR值显著升高(P<0.05),长寿组A等位基因的OR值亦显著升高(P<0.05)。结论 IGF-1R基因G3174A位点多态性与广西巴马男性长寿现象存在一定的关系,A等位基因可能是巴马长寿的有利因素。
Objective To investigate the association between G3174A polymorphism of insulin-like growth factor 1 receptor (IGF-1R) gene and longevity of Bama in Guangxi. Methods A total of 187 longevity elderly (aged 90-110 years old and longevity group) in longevity area of Guangxi Bama were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). 224 unrelated Longevity Elderly IGF-1R gene in healthy adult (aged 24-79 years old, control group) and 187 healthy adults (age 21-79 years old, external control group) in the related area were genotyped and sequenced by direct sequencing verification. The differences of genotype and allele frequency between longevity group and control groups were compared. Results The frequencies of GG, GA and AA genotypes in the longevity group were 41.2%, 45.4% and 13.4%, respectively. The frequencies of the G and A alleles were 63.9% and 36.1%, respectively. The frequencies of GA and AA genotypes in longevity group were higher than those in control group (P <0.05). There was no significant difference in GA and AA genotype frequencies between longevity and control groups. The frequency of allele A and IGF-1R A + in longevity group were higher than those in control group and external control group (P <0.05). The frequencies of GA and AA genotypes in longevity group were higher than those in control group, and the frequencies of allele A were higher than those in control group (P <0.05). The frequencies of GG, GA, AA genotypes and G, A alleles in longevity group were not significantly different from those in the control group. The OR of GA, AA and GA + AA genotypes in longevity group was significantly higher than that in the control group (P <0.05), and the OR of A allele in longevity group was also significantly increased (P <0.05). Conclusion The G3174A polymorphism in IGF-1R gene is related to the longevity of males in Guangxi Bama region. The A allele may be a favorable factor for the longevity of Bama.