广西黑衣壮儿童VDR基因rs1544410、rs7975232位点多态性研究

Polymorphism of rs1544410 and rs7975232 loci of VDR genes in children of Heiyi Zhuang ethnic group in Guangxi

目的探讨广西黑衣壮儿童维生素D受体(VDR)基因rs1544410、rs7975232位点多态性的分布特点及与其他地区儿童多态性差异。方法选取广西黑衣壮<14岁儿童115例为研究对象,采取多重单碱基延伸法(SNaPshot)与DNA测序相结合方法对VDR基因rs1544410、rs7975232位点进行基因分型。比较rs1544410、rs7975232位点的分布特点,及在不同性别儿童中的差异。并与其他地区人群比较VDR rs1544410、rs7975232基因型和等位基因分布频率差异。结果广西黑衣壮儿童VDR基因rs1544410、rs7975232基因型及等位基因频率在不同性别儿童中差异无统计学意义(P>0.05)。广西黑衣壮儿童VDR基因rs1544410基因型和等位基因分布频率与千人基因组计划(1000 Genomes Project)的日本东京人(JPT)、非洲尼日利亚伊巴丹的约鲁巴人(YRI)、美国休斯敦的古吉拉特印第安人(GIH)、西班牙伊比利亚人(IBS)相比,差异有统计学意义(P<0.05),rs7975232基因型和等位基因分布频率与YRI、GIH、IBS相比,差异有统计学意义(P<0.05)。结论广西黑衣壮儿童VDR基因rs1544410、rs7975232位点SNP具有地域性,可为当地VDR基因相关疾病的预防和诊疗研究提供科学理论依据。

Objective To explore the distribution characteristics of rs1544410 and rs7975232 loci polymorphisms of vitamin D receptor(VDR)genes in children of Heiyi Zhuang ethnic group in Guangxi and their polymorphism differences from children in other regions.Methods A total of 115 children under 14 years old of Heiyi Zhuang ethnic group in Guangxi were selected as the research subjects.The rs1544410 and rs7975232 loci of VDR genes were genotyped by multiple single base extension(SNaPshot)combining with DNA sequencing.Then this study compared the distribution characteristics of rs1544410 and rs7975232 as well as their differences among children of different gender.The distribution frequencies of genotypes and alleles of VDR rs1544410 and rs7975232 were compared between Heiyi Zhuang children and those in other regions.Results There was no significant difference in the genotype and allele frequencies of VDR rs1544410 and rs7975232 among Heiyi Zhuang children of different gender(P>0.05).Heiyi Zhuang children in Guangxi had significance differences in the genotype and allele distribution frequency of VDR rs1544410 from the Tokyoite of Japan(JPT),the Yoruba people in Ibadan of Nigeria(YRI),the Gujarat Indians of Houston(GIH),the Iberians of Spain(IBS)in the 1000 Genomes Project(P<0.05).The genotype and allele distribution frequency of rs7975232 in Heiyi Zhuang children were significantly different from those of YRI,GIH and IBS(P<0.05).Conclusion The SNP of rs1544410 and rs7975232 loci of VDR genes in children of Heiyi Zhuang ethnic group in Guangxi are regional,which can provide a scientific theoretical basis for the prevention,diagnosis and treatment of local VDR gene-related diseases.