广西壮族人群TLR2基因rs2289318G/C和rs3804100T/C的多态性研究

Study on the polymorphisms of TLR2 gene rs2289318G/C and rs3804100T/C in Guangxi Zhuang population

目的探讨广西壮族人群Toll样受体2(TLR2)基因rs2289318G/C和rs3804100T/C多态性,比较其与不同地区及种族的分布差异。方法采用单碱基延伸技术和DNA测序法对210名广西壮族健康体检者的TLR2基因rs2289318G/C和rs3804100T/C进行基因分型,分析其基因多态性,并与千人基因组计划数据库公布的美国西南部非洲裔(ASW)、巴巴多斯的加勒比非洲裔(ACB)、尼日利亚伊巴丹的约鲁巴人(YRI)、美国人(AMR)、日本东京的日本人(JPT)、欧洲人(EUR)、南亚人(SAS)、中国北京的汉族人(CHB)的基因型进行比较。结果广西壮族人群TLR2基因rs2289318G/C位点存在GG、CG和CC基因型,其频率分别为58.57%、37.62%和3.81%;G和C等位基因频率分别为77.38%和22.62%。rs3804100T/C位点存在TT、CT和CC基因型,其频率分别为57.62%、38.10%和4.29%;T和C等位基因频率分别为76.67%和23.33%。在广西壮族人群中,TLR2基因rs2289318G/C和rs3804100T/C位点的基因型和等位基因频率在不同性别间比较差异均无统计学意义(P>0.05)。广西壮族人群rs2289318G/C等位基因与SAS比较差异有统计学意义(P<0.05),但其基因型与SAS比较差异无统计学意义(P>0.05);rs2289318G/C等位基因及等位基因频率与ACB、ASW、YRI、AMR、JPT、EUR、CHB比较差异均无统计学意义(P>0.05)。广西壮族人群rs3804100T/C位点的基因型及等位基因频率与ACB、ASW、YRI、AMR、EUR、SAS、CHB比较差异均有统计学意义(P<0.05),而与JPT比较差异无统计学意义(P>0.05)。结论广西壮族人群TLR2基因rs2289318G/C、rs3804100T/C多态性与不同种族人群比较存在差异。

Objective To investigate the polymorphisms of Toll-like receptor 2(TLR2)gene rs2289318G/C and rs3804100T/C in Guangxi Zhuang population,and to compare their distribution differences with different regions and races.Methods Single base extension technology and DNA sequencing were used to detect the genotypes of rs2289318G/C and rs3804100T/C of TLR2 gene in 210 healthy persons of Guangxi Zhuang nationality receiving health examination.The genetic polymorphisms were analyzed and the results were compared with the genotypes of African Ancestry in Southwest US(ASW),the ancestry of African Caribbean in Barbados(ACB),Yoruba in Ibadan,Nigeria(YRI),American(AMR),Japanese in Tokyo,Japan(JPT),European(EUR),South Asian(SAS)and Han Chinese in Beijing,China(CHB)published by Thousand Human Genome Project Database.Results There were GG,CG and CC genotypes at the rs2289318G/C locus of TLR2 gene in Guangxi Zhuang population,the frequencies of which were 58.57%,37.62%,and 3.81%,respectively;the frequencies of G and C alleles were 77.38%and 22.62%,respectively.There were TT,CT and CC genotypes in the locus of rs3804100T/C,and their frequencies were 57.62%,38.10%and 4.29%,respectively;the frequencies of T and C alleles were 76.67%and 23.33%,respectively.In the Guangxi Zhuang population,there were no significant differences in the genotype and allele frequencies of rs2289318G/C and rs3804100T/C loci of TLR2 gene between different genders(P>0.05).There was a statistically significant difference between the rs2289318G/C allele in the Guangxi Zhuang population and that in SAS(P<0.05),but there were no statistically significant differences between the genotypes at the rs2289318G/C locus of TLR2 gene in the Guangxi Zhuang population and those in SAS(P>0.05).There were no statistically significant differences in the rs2289318G/C allele and its allele frequencies between the Guangxi Zhuang population and ACB,ASW,YRI,AMR,JPT,EUR and CHB(P>0.05).There were statistically significant differences in the genotypes at the rs3804100T/C locus of TLR2 gene and its allele frequencies between the Guangxi Zhuang population and ACB,ASW,YRI,AMR,EUR,SAS and CHB(P<0.05).However,there were no statistically significant differences in the genotypes at the rs3804100T/C locus of TLR2 gene and its allele frequencies between the Guangxi Zhuang population and JPT(P>0.05).Conclusion The polymorphisms of TLR2 gene rs2289318G/C and rs3804100T/C in Guangxi Zhuang population are different from those in different ethnic groups.