广西人群IL-22基因多态性分布特征及其与血脂的关系

Distribution characteristics of polymorphisms of interleukin-22 gene in Guangxi population and their association with serum lipid levels

目的:研究广西正常人群中白细胞介素22(IL-22)基因rs2227485C/T和rs2227491A/G位点的多态性分布特点和在不同人群间的分布差异,探讨不同基因型间常见血脂指标水平的差异。方法:采取多重单碱基延伸法(SNa Pshot)和DNA测序相结合的方法对280例广西人群IL-22基因的rs2227485C/T和rs2227491A/G位点进行基因分型检测,并用统计学方法比较各组间多态性分布的差异及不同基因型间血脂指标水平的差异。结果:rs2227485C/T存在CC、CT和TT 3种基因型,分布频率分别为17.1%、49.3%和33.6%,此位点基因型及等位基因频率在广西人群不同性别间的差异无统计学显著性(P>0.05),其基因型及等位基因与国际人类基因组单体型图计划公布的意大利、北京、日本和墨西哥人群相比,差异有统计学意义(P<0.05);rs2227491A/G存在AA、AG和GG 3种基因型,分布频率分别为16.1%、52.8%和31.1%,此位点基因型及等位基因频率在广西人群不同性别间的差异无统计学显著性(P>0.05),基因型频率与意大利、日本和墨西哥人群之间的差异有统计学意义(P<0.05),等位基因分布频率与其他4个人群相比差异均有统计学意义(P<0.05)。rs2227491A/G位点3种基因型间的HDL-C和LDL-C差异有统计学意义(P<0.05),其中HDL-C在AG/AA与GG组比较差异有统计学意义(P<0.05),LDL-C在AG/GG和AA组比较差异有统计学意义(P<0.05)。结论:IL-22基因rs2227485C/T和rs2227491A/G位点多态性在不同人群间存在着差异。rs2227491A/G多态性与血脂水平相关。

AIM:To investigate the distribution characteristics of interleukin-22(IL-22)gene rs2227485C/T and rs2227491A/G polymorphisms in Guangxi people and the distribution differences with other ethnic groups,and to explore the difference levels of common lipid indexes in different genotypes.METHODS:SNaPshot technique and DNA sequencing were used in280Guangxi persons to examine IL-22genotypes and to analyzed the distribution frequencies of allele and genotype in these sites.The distribution frequencies in different sexes,and the differences between groups and diffe-rence levels of common lipid indexes in different genotypes were analyzed statistically.RESULTS:Three genotypes of CC,CT and TT were found in rs2227485C/T with the frequency distribution of17.1%,49.3%and33.6%,respectively.No significant difference between different sexes of each genotype and allele frequency in the Guangxi population was observed(P>0.05).Compared with the distribution frequencies of genotype and allele in HapMap-TSI,HapMap-HCB,HapMap-JPT and HapMap-MEX,those in Guangxi population showed statistically significant differences(P<0.05).Three genotypes of AA,AG and GG were found in rs2227491A/G with the frequency distribution of16.1%,52.8%and31.1%,respectively.There was no significant difference between different sexes of each genotype and allele frequency in the Guangxi population(P>0.05).The significant differences of genotype frequencies among Guangxi population,HapMap-TSI,HapMap-JPT and HapMap-MEX were detected(P<0.05).Compared with the other4populations,allele frequencies in Guangxi population had significant difference(P<0.05).There were significant differences in the levels of HDL-C and LDL-C among the3genotypes of rs2227491A/G.The level of HDL-C had difference between AG/AA genotype and GG genotype.In addition,the level of LDL-C had difference between AG/GG genotype and AA genotype(P<0.05).CONCLUSION:rs2227485C/T and rs2227491A/G polymorphisms of IL-22gene have differences in different populations.The rs2227491A/G polymorphism may be associated with serum lipid levels..