miR-208基因rs8022522和rs12894524位点多态性在广西人群的分布

Distribution of rs8022522 and rs12894524 polymorphisms of miR-208 gene in Guangxi population

目的研究miR-208基因rs8022522和rs12894524在广西健康人群中的分布特点,并将其多态性与其他地区人群的分布进行比较。方法对297例广西健康人群rs8022522和rs12894524位点采用高通量SNPscan技术进行基因分型检测,并将结果与人类基因组计划(HapMap)公布的不同人群基因多态性数据进行比较。结果在广西健康人群中rs8022522位点存在3种基因型,为AA(2.7%)、AG(24.2%)和GG(73.1%),其中A、G等位基因频率分别为14.8%、85.2%。rs12894524位点基因存在3种基因型为TT(1.3%)、TG(13.5%)和GG(85.2%),其中T、G基因频率为8.1%、91.9%。将两位点检测结果与HanpMap公布的HapMap-CEU、HapMap-YRI及HapMap-TSI基因型数据比较,差异均有统计学意义(P<0.05);而与HapMap-JPT、HapMap-CHB相比,两位点基因型和等位基因频率差异均无统计学意义(P>0.05)。rs8022522位点三种基因型人群血脂之间比较,携带GG基因型人群的高密度脂蛋白胆固醇(HDL-C)与AG组比较,差异具有统计学意义(P<0.05)。结论广西健康人群miR-208基因rs8022522和rs12894524位点多态性与其他区域存在不同程度差异,rs8022522位点多态性与HDL-C水平高低有关。

Objective To explore the distribution of polymorphisms of miR-208 genes rs8022522 and rs12894524 locus in Guangxi healthy population and compare the differences in the polymorphism distribution in different population.Methods SNPscan technology was used to detect genotypes of rs8022522 and rs12894524 from 297 healthy people in Guangxi,and the results were compared with other populations from Human genome Haplotype Map(HapMap)data.Results Three genotypes,namely,AA(2.7%),AG(24.2%)and GG(73.1%),in rs8022522 were found,with the allele frequencies of A and G being 14.8%and 85.2%.The genotypes of rs12894524 locus were TT(1.3%),TG(13.5%)and GG(85.2%),and the frequency of T and G allele was 8.1%and 91.9%,respectively.rs8022522 and rs12894524 locus genotypes and allele frequencies were significantly different from HapMap-CEU,HapMap-YRI and HapMap-TSI(P<0.05).Compared with HapMap-JPT and HapMap-CHB,there was no significant difference in genotype or allele frequency between the two sites(P>0.05).As for the blood lipid level among the three genotypes in rs8022522,the level of high density lipoprotein cholesterol(HDL-C)with GG genotype was significantly different from that in AG group(P<0.05).Conclusion The polymorphisms of rs8022522 and rs12894524 of miR-208 gene in Guangxi population are different from those in other regions to varying degrees.The polymorphism of rs8022522 locus is related to the level of HDL-C.