| Part 1 Distribution characteristics of single nucleotide polymorphism of VDR gene in Heiyi Zhuang children in GuangxiObjectiveVitamin D receptor(VDR)gene exists widely in cells and tissues,and is closely related to the occurrence and development of many human diseases.In this study,the distributions of rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene in Guangxi Heiyi Zhuang children were investigated.The genotype and allele frequency distribution characteristics of rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene in different ethnic groups and racial populations were analyzed and compared,so as to provide reference for the research on the pathogenesis,prevention,diagnosis and treatment of local VDR gene-related diseases.MethodsA total of 115 Guangxi Heiyi Zhuang children who underwent physical examination in the Affiliated Hospital of Youjiang Medical University for Nationalities from May 2018 to May 2019 were selected as the research subjects.After collecting peripheral venous blood,the four SNP loci of VDR gene rs1544410,rs7975232,rs10735810 and rs731236 were analyzed by single base extension SNa Pshot method.The distributions of SNP loci rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene in Guangxi Heiyi Zhuang children were described by Hardy-Weinberg analysis of population representation.The differences in genotype frequency and allele frequency of different SNP loci were compared byX~2tests,as well as the genotype frequency and allele frequency of VDR gene SNP loci rs1544410,rs7975232,rs10735810 and rs731236 in other ethnic and racial populations.Results1.Comparison of genotype frequencies of SNP loci of VDR gene:CC and CT genotypes were detected at rs1544410 of VDR gene in healthy children in Guangxi,and the distribution frequencies were 87.8%and 12.2%,respectively.CC,AA and AC genotypes were detected at rs7975232 loci,and the distribution frequencies were 48.7%,7.8%and 43.5%,respectively.AA,AG and GG genotypes were detected at rs10735810,and the distribution frequencies were 33.0%,44.3%and 22.6%,respectively.Two genotypes,AA and AG,were detected at rs731236,and the distribution frequencies were 87.0%and 13.0%,respectively.There were no significant differences in genotype frequencies of rs1544410,rs7975232,rs10735810 and rs731236 among 4 SNPs of VDR gene in Guangxi Heiyi Zhuang healthy children(P>0.05).2.Comparison of allele frequencies at SNP loci of VDR gene:The distribution frequencies of C and T at rs1544410 of VDR gene in Guangxi Heiyi Zhuang healthy children were 93.9%and 6.1%,respectively.The distribution frequencies of C and A of rs7975232allele were 70.4%and 29.6%,respectively.The distribution frequencies of A and G of rs10735810 allele were 55.2%,44.8%,respectively.The distribution frequencies of allele A and G at rs731236 locus were 93.5%and 6.5%,respectively.There were no significant differences in allele frequencies of rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene between males and females(P>0.05).3.Comparison of genotype and allele frequency of SNP loci of VDR gene in population of different regions and nationalities:(1)The genotype and allele frequency of VDR gene rs1544410 in Guangxi Heiyi Zhuang children were significantly different from those in Tokyo population,Yoruba population in Ibadan of Nigeria,Gujarat Indian population in Houston of USA,and Iberia population in Spain(P<0.05).(2)The genotype and allele frequency of VDR gene rs7975232 in Guangxi Heiyi Zhuang children were significantly different from those in Yoruba population in Ibadan of Nigeria,Gujarat Indians in Houston of USA,and Iberia population in Spain(P<0.05).(3)The genotype and allele frequency of VDR gene rs10735810 in Guangxi Heiyi Zhuang children were significantly different from those in Beijing population,Tokyo population,Yoruba population in Ibadan of Nigeria,Gujarat Indian population in Houston of USA,and Iberia population in Spain(P<0.05).(4)There were significant differences in genotype and allele frequency of VDR gene rs10735810 among Guangxi Heiyi Zhuang children and Yoruba population in Ibadan of Nigeria,Gujarat Indian population in Houston of USA,and Iberia population in Spain(P<0.05).ConclusionsThe SNPs of rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene in Guangxi Heiyi Zhuang healthy children were regional.Part 2 Correlation of VDR gene polymorphism and its serum expression level and the occurrence of asthma in Heiyi Zhuang children in GuangxiObjective The combination of VDR gene and vitamin D(VITD)plays an important role in the biological process of human body,and the SNP loci of VDR gene are related to the occurrence and development of a variety of diseases.This study aims to explore the correlation between rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene SNP loci and asthma in Guangxi Heiyi Zhuang children,and to provide scientific theoretical basis for the pathogenesis research,clinical prevention,diagnosis and treatment of asthma in Guangxi Heiyi Zhuang children.Methods A total of 121 Heiyi Zhuang children with asthma from Guangxi were enrolled from May 2018 to May 2019 as the asthma group,and another 115 children who underwent physical examination during the same period were selected as the healthy control group.The peripheral venous blood of all subjects was collected,and the genotype and allele frequencies of rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene in the serum of children in both groups were measured by the Snapshot kit.The genotype and allele frequencies of rs1544410,rs7975232,rs10735810 and rs731236 SNP loci of VDR gene were compared between two groups.The binary logistic regression analysis model was established to analyze the correlation between rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene polymorphisms and the occurrence of asthma in Guangxi Heiyi Zhuang children after adjusting for age and gender.Serum VDR gene expression levels of all subjects were detected by enzyme-linked immunosorbent assay(ELISA).Serum VDR gene expression levels of children in asthma group and healthy control group were compared by t-test of two samples.Results1.Comparison of SNP genotype and allele frequency of VDR gene in asthma group and healthy control group: There was no significant difference in genotype and allele frequency of rs1544410,rs7975232,rs10735810 and rs73123 of VDR gene between two groups(P>0.05).There was no significant difference in genotype and allele frequency of rs1544410,rs7975232,rs10735810 and rs73123 of VDR gene between the asthma group and the healthy control group(P>0.05).2.A strong linkage imbalance was found among the loci of VDR gene: VDR gene rs1544410 and rs731236(D’=0.936,R2=0.849),rs1544410 and rs7975232(D’=1,R2=0.179),rs731236 and rs7975232(D’=1,R2=0.173)in Guangxi Heiyi Zhuang children.3.Analysis of SNP loci haplotypes of VDR gene: A-C-A-C and G-C-A-C haplotypes of VDR gene in Guangxi Heiyi Zhuang children were the highest,A-C-A-C(OR=0.819,95% CI:0.562-1.193)and G-C-A-C(OR=1.136,95% CI: 0.772-1.672).There was no significant difference in the distribution of haplotypes between the asthma group and the control group(P>0.05).4.Comparison of serum VDR gene expression between the asthma group and the healthy control group: the difference in serum VDR gene expression between two groups was statistically significant(P<0.05),and the serum VDR gene expression of the asthma group was lower than that of the healthy control group.Conclusions The genotypes and allele frequencies of rs1544410,rs7975232,rs10735810 and rs731236 of VDR gene SNP loci in Guangxi Heiyi Zhuang children are related with the occurrence of asthma,but the serum expression of VDR gene in Guangxi Heiyi Zhuang children with asthma is lower than that in healthy children. |
PDF Full Text Request