广西人群MALAT1基因rs591291位点多态性及其与同型半胱氨酸水平的关联

Distribution of rs591291polymorphisms of the MALAT1gene in Guangxi populations and correlation with Hcy levels

目的:研究MALAT1基因启动子区rs591291位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)在广西健康人群的分布特点,并比较多态性在不同人群的分布差异以及与同型半胱氨酸(homocysteine,Hcy)水平的相关性。方法:选用SNPscan高通量分型技术检测232例广西人群rs591291位点,统计分析基因型和等位基因频率与人类基因组单体型图(Haplotype map,HapMap)公布的HapMap-CHB、HapMap-JPT、HapMap-MXL、HapMap-TSI和HapMap-YRI数据间的差异,并进一步统计各基因型的Hcy水平。结果:广西人群rs591291位点存在CC(39.7%)、CT(44.8%)和TT(15.5%)基因分型,C、T等位基因频率分别为62.1%、37.9%。该位点SNPs在性别组间的差异无统计学意义(P>0.05);与HapMap-CHB比较,基因型与等位基因分布差异无统计学意义(P>0.05);与HapMap-JPT、HapMap-MXL、HapMap-TSI和HapMap-YRI人群比较差异有统计学意义(P<0.05)。此外CC、CT和TT基因型的Hcy水平差异没有统计学意义(P>0.05)。结论:广西人群MALAT1基因启动子区rs591291位点存在多态性,同其他区域数据有不同程度的差异,与Hcy水平尚无相关性。

Objective:We explore the distribution characteristics of single nucleotide polymorphisms(SNPs)of rs591291in the promoter region of MALAT1gene in Guangxi populations,compare the distribution differences in different regions,and further explore the correlation between rs591291polymorphism with homocysteine(Hcy)level.Method:SNPs of rs591291from 232cases of Guangxi were detected by SNPscan high-throughput technology.Statistical method was used to compare the difference in genotype and allele frequency of rs591291between Guangxi and other populations(HapMap-CHB,HapMap-JPT,HapMap-MXL,HapMap-TSI,HapMap-YRI)published by the HapMap project.Result:Genotypes of rs591291in Guangxi were CC(39.7%),CT(44.8%)and TT(15.5%),with the frequency of C and T allele were 62.1%and 37.9%,respectively.No statistically significant difference in SNPs of rs591291between gender groups(P>0.05).The genotype and allele frequency distribution of MALAT1gene rs591291in Guangxi populations were no significantly different from HapMap-CHB populations(P>0.05);while it was significantly different from those of HapMap-JPT,HapMap-MXL,HapMap-TSI and HapMap-YRI populations(P<0.05).In addition,there were no statistical difference in Hcy level among CC,CT and TT genotypes(P>0.05).Conclusion:The polymorphisms of rs591291in the promoter region of MALAT1 gene were observed in Guangxi population,which was different from the data of other regions to varying degrees,and had no correlation with Hcy levels.