广西壮族人群IL27基因位点rs4740与rs181206多态性研究(1)
【摘要】目的分析广西壮族人群中白细胞介素27(IL27)单核苷酸多态性(SNP)位点rs4740和rs181206的各基因型及等位基因型的分布频率，并对不同种族间的分布差异进行分析。方法利用SNaPshot SNP分型技术检测150名广西壮族人IL27基因SNP位点rs4740和rs181206的基因型，与国际人类基因组单倍型图谱计划(HapMap)上的四个人群(欧洲、非洲、日本和中国北京人群)的SNP分型数据做对比，分析IL27基因SNP位点rs4740和rs181206的基因型及等位基因频率在以上五个人群之间的差异。结果在广西壮族人群中可发现白介素基因rs4740和rs181206存在多态性，广西壮族人群白介素基因rs4740位点的基因型和等位基因频率与非洲人群、日本人群的差异有统计学意义(P<0.05)，而与欧洲人群、中国北京人群的差异无统计学意义(P>0.05)；广西壮族人群白介素基因rs181206位点的基因型和等位基因频率与欧洲人群、非洲人群、日本人群以及中国北京人群的差异均有统计学意义(P<0.05)。结论广西壮族人群中白介素SNP位点rs4740和rs181206基因型及等位基因型的分布频率与其他地区人群相比存在差异，这种差异可能导致某些疾病在不同地区间的发病率和临床表现存在差异。
【关键词】白细胞介素27；单核苷酸多态性；基因型；种族
中图分类号：R394文献标识码：ADOI：10.3969/j.issn.10031383.2016.03.001
【Abstract】ObjectiveTo analyze distribution frequency of genotype and allele of interleukin27 (IL27) single nucleotide polymorphism (SNP) locus rs4740 and rs181206 of Zhuang population in Guangxi，and to analyze distribution differences among different races.MethodsSNaPshot SNP typing technology was used to test IL27 gene SNP locus rs4740 and rs181206 genotypes in 150 cases of Zhuang population in Guangxi，and comparing the abovementioned rs4740 and rs181206 genotypes to SNP typing data from four populations (Europe，Africa，Japan，and Beijing) on the international human genome haplotype map(HapMap).And then，differences between IL27 gene SNP locus rs4740 and rs181206 genotypes and allele frequencies among the abovementioned five groups were analyzed.Results Polymorphism of interleukin gene rs4740 and rs181206 was found in Zhuang population in Guangxi.Difference of genotype and allele frequency of rs4740 locus in Zhuang population in Guangxi and those of African population and Japanese population was statistically significant(P<0.05)，but difference of those of European population and Beijing population was not statistically significant(P>0.05).However，differences of genotype and allele frequency of rs181206 locus in Zhuang population in Guangxi and those of European population，African population，Japanese population and Beijing population were all statistically significant(P<0.05).ConclusionThere is difference between SNP locus rs4740 and rs181206 genotypes and allele distribution frequencies of Zhuang population in Guangxi and those of population in other areas，this difference may lead to differences in the incidence and clinical manifestations of certain diseases in different regions.
【Key words】IL27；single nucleotide polymorphism；genotype；race
白细胞介素27(interleukin27，IL27)，新近发现的IL6/IL12家族的细胞因子，大部分由已活化的抗原提呈细胞(包括树突状以及单核巨噬细胞)产生，是由p28和EBI3两个亚基构成的异源二聚体，通过与其受体IL27R(WSX1/gp130)结合发挥生物学功能[1]。IL27具有亲和与抗炎的特性，可以通过调节辅助T细胞的发展，抑制T细胞增殖，刺激细胞毒性T细胞的活性，诱导B细胞同种型的转换，并且还参与多种自身免疫病[2]。近年来随着流行病学的发展，研究发现IL27的多个位点与多种肿瘤密切相关[3，4]，它具有抗肿瘤活性和抗血管生成活性。因而，准确分析不同地区及人群中的白介素基因多态性分布，可以为基因多态性与某些疾病的发生收集更多数据并提供研究价值。我们采用SNaPshot SNP分型技术对150名广西壮族人群白介素基因rs4740位点和rs181206位点的遗传多态性进行分析，将数据结果与国际人类基因组单倍型图谱计划(HapMap)公布的四个人群(欧洲、非洲、日本和中国北京人群)的SNP检测结果对比，从而分析不同人种白介素基因的SNP是否存在差异，以期为与白介素相关的遗传和疾病等方面的研究提供实验依据资料。, http://www.100md.com(陈善萍 郭钊 韦宝斌 徐冲 韦贵将 唐毓金 王俊利)
【关键词】白细胞介素27；单核苷酸多态性；基因型；种族
中图分类号：R394文献标识码：ADOI：10.3969/j.issn.10031383.2016.03.001
【Abstract】ObjectiveTo analyze distribution frequency of genotype and allele of interleukin27 (IL27) single nucleotide polymorphism (SNP) locus rs4740 and rs181206 of Zhuang population in Guangxi，and to analyze distribution differences among different races.MethodsSNaPshot SNP typing technology was used to test IL27 gene SNP locus rs4740 and rs181206 genotypes in 150 cases of Zhuang population in Guangxi，and comparing the abovementioned rs4740 and rs181206 genotypes to SNP typing data from four populations (Europe，Africa，Japan，and Beijing) on the international human genome haplotype map(HapMap).And then，differences between IL27 gene SNP locus rs4740 and rs181206 genotypes and allele frequencies among the abovementioned five groups were analyzed.Results Polymorphism of interleukin gene rs4740 and rs181206 was found in Zhuang population in Guangxi.Difference of genotype and allele frequency of rs4740 locus in Zhuang population in Guangxi and those of African population and Japanese population was statistically significant(P<0.05)，but difference of those of European population and Beijing population was not statistically significant(P>0.05).However，differences of genotype and allele frequency of rs181206 locus in Zhuang population in Guangxi and those of European population，African population，Japanese population and Beijing population were all statistically significant(P<0.05).ConclusionThere is difference between SNP locus rs4740 and rs181206 genotypes and allele distribution frequencies of Zhuang population in Guangxi and those of population in other areas，this difference may lead to differences in the incidence and clinical manifestations of certain diseases in different regions.
【Key words】IL27；single nucleotide polymorphism；genotype；race
白细胞介素27(interleukin27，IL27)，新近发现的IL6/IL12家族的细胞因子，大部分由已活化的抗原提呈细胞(包括树突状以及单核巨噬细胞)产生，是由p28和EBI3两个亚基构成的异源二聚体，通过与其受体IL27R(WSX1/gp130)结合发挥生物学功能[1]。IL27具有亲和与抗炎的特性，可以通过调节辅助T细胞的发展，抑制T细胞增殖，刺激细胞毒性T细胞的活性，诱导B细胞同种型的转换，并且还参与多种自身免疫病[2]。近年来随着流行病学的发展，研究发现IL27的多个位点与多种肿瘤密切相关[3，4]，它具有抗肿瘤活性和抗血管生成活性。因而，准确分析不同地区及人群中的白介素基因多态性分布，可以为基因多态性与某些疾病的发生收集更多数据并提供研究价值。我们采用SNaPshot SNP分型技术对150名广西壮族人群白介素基因rs4740位点和rs181206位点的遗传多态性进行分析，将数据结果与国际人类基因组单倍型图谱计划(HapMap)公布的四个人群(欧洲、非洲、日本和中国北京人群)的SNP检测结果对比，从而分析不同人种白介素基因的SNP是否存在差异，以期为与白介素相关的遗传和疾病等方面的研究提供实验依据资料。, http://www.100md.com(陈善萍 郭钊 韦宝斌 徐冲 韦贵将 唐毓金 王俊利)