| Objective: To investigate the distribution of single nucleotide polymorphisms at the ADRB2 rs1042713,FCER1 B rs1441586,rs569108,IL-4R rs1801275,rs1805010 loci in Guangxi black-clad Zhuang children,the correlation between the selected loci and asthma development.In turn,a preliminary screening of the predictive model of asthma susceptibility genes in Guangxi black-clad Zhuang children was performed.Methods: A case-control study design was used to select 100 cases of black children with confirmed asthma from January 2021 to March 2022 in the pediatric ward and respiratory department of the Affiliated Hospital of the Right River School of Ethnic Medicine as the asthma case group.During the same period,100 healthy black children who were examined at the health center of the Affiliated Hospital of Youjiang Medical University for Nationalities were used as the healthy control group.Single nucleotide polymorphisms(SNPs)were detected by polymerase ligase chain reaction(PCR-LCR chain reaction)at ADRB2 rs1042713,FCER1 B rs1441586,rs569108,IL-4R rs1801275,rs1805010 loci,and the Hardy-Weinberg equilibrium The Hardy-Weinberg equilibrium law was used to calculate the population representation of the five loci studied.The genotypes,allele frequencies,and distribution of the selected genes in the population were analyzed using SPSS26.0data analysis software.Cross-validation analysis between genes was performed using GMDR(multifactorial dimensionality reduction analysis)to initially screen the predictive models of asthma susceptibility genes for prediction in black-clad children and to analyze the interactions between genes at the same time.The linkage disequilibrium and haplotype relationships among the selected loci were analyzed using SHEsis online analysis software.Results:(1)The differences in genotype frequencies and allele frequencies of selected genes ADRB2 rs1042713,FCER1 B rs1441586,rs569108,IL-4R rs1801275,rs1805010 loci in male and female children were not statistically significant(P > 0.05)in healthy black-clad strong children;(2)Human Genome 1000 Project(Hap Map)analysis showed that the differences in genotype frequencies of AA,AG,and GG genotypes and A and G allele frequencies of gene ADRB2 rs1042713 loci were statistically significant among healthy Guangxi Black-clad Zhuang children and Chinese Han Chinese from Beijing and Yoruba from Nigeria(P=0.001,P=0.005;P=0.000,P= 0.001);genotype frequencies of CC,CT,TT and C and T allele frequencies of gene FCER1 B rs1441586 locus were statistically significant among healthy Guangxi Black-clad Zhuang children and Chinese Beijing Han and Japanese Tokyo(P=0.023,P=0.018;P=0.007,P=0.011);gene FCER1 B rs569108 locus had statistically significant differences in AA,AG,GG genotype frequencies and A and G allele frequencies in healthy Guangxi Black-Jiang children and Utahns of Northern and Western European ancestry(P=0.000,P=0.000),and the gene IL-4R rs1801275 locus had statistically significant differences in AA,AG,GG genotype frequencies and A and G allele frequencies in healthy Guangxi black-clad Zhuang children and Japanese Tokyo people,and Yoruba people in Nigeria were statistically significant(P=0.002,P=0.000;P=0.003,P=0.000);AA,AG,GG genotype frequencies and A and G allele frequencies at the gene rs1805010 locus were statistically significant in healthy Guangxi black-clad Zhuang children and Chinese Han people in Beijing,Japanese Tokyo people,Utahns with Northern and Western European ancestry,and Yoruba people in Nigeria were statistically significant(P = 0.000);(3)genotype and gene frequencies of gene ADRB2 rs1042713 locus and IL-4R rs1801275 locus were statistically significant(P < 0.05)between the asthma and healthy groups,and genes FCER1 B rs1441586,rs569108,and IL-4R rs1805010 loci had no statistically significant differences in genotype and allele frequency between the two groups(P >0.05);(4)co-dominant,dominant,and recessive models of the ADRB2 gene rs1042713 locus had statistically significant differences between the asthma and healthy groups(P = 0.006,OR: 3.086,95% CI: 1.364-6.980;P=0.024,OR: 2.000,95% CI: 1.093-3.659;P=0.023,OR: 0.440,95% CI: 0.215-0.091),additive model for IL-4R gene rs1801275 locus,dominant model,and super dominant model were statistically significant between the asthma and control groups(P=0.030,OR: 0.504,95% CI: 0.27-0.941;P=0.015,OR: 0.474,95% CI: 0.258-0.871;P=0.044,OR: 0.531,95% CI: 0.286-0.987);(5)multifactorial downscaling analysis showed that the prediction model consisting of gene FCER1 B rs1441586,IL-4R rs1801275 had60.0% accuracy,72% sensitivity and 48% specificity(training set: 0.6001;test set:0.5375;cross-validation agreement: 32/40;P=0.0430);(6)two two-site synergistic Comparison showed that the AA genotype of the ADRB2 rs1042713 locus and the FCER1 B rs569108 locus,the AA genotype of the ADRB2 rs1042713 locus and the IL-4R rs1801275 locus,and the AA genotype of the ADRB2 rs1042713 locus and the IL-4R rs1805010 locus were statistically significant between the asthma group and the Statistically significant differences between the healthy group(2=5.485,P=0.019,OR: 2.374,95% CI: 1.138-4.952;2=5.496,P=0.019,OR: 2.365,95% CI: 1.136-4.925.2=5.358,P=0.021,OR: 2.304,95% CI: 1.124-4.720),the remaining loci did not differ statistically significantly(P>0.05)between the asthma group and the healthy group in a two-by-two synergistic comparison;(7)the linkage disequilibrium of the selected loci showed that the FCER1 B rs1441586 locus and(7)The selected loci showed strong linkage disequilibrium at FCER1 B rs1441586 and FCER1 B rs569108;IL-4R rs1801275 and IL-4R rs1805010 had strong linkage disequilibrium;(8)FCER1B rs1441586 and rs569108 had three haplotypes,C-A,C-G and T-A,and the distribution was not statistically significant in the asthma and healthy groups.The IL-4R rs1801275 and rs1805010 loci had three haplotypes,A-A,A-G and G-A,and the differences in the distribution of G-A haplotypes between the asthma and healthy groups were statistically significant.Conclusions:(1)The distribution of ADRB2 rs1042713,FCER1 B rs1441586,rs569108,IL-4R rs1801275,rs1805010 were different by region and ethnic group.(2)The ADRB2 rs1042713 and IL-4R rs1801275 sites may be related to the incidence of asthma in Guangxi Zhuang children,while the FCER1 B rs1441586,rs569108 and IL-4R rs1805010 sites may not be the risk factors for asthma in Guangxi Zhuang children.(3)This study found that the model of FCER1 B rs1441586 and IL-4R rs1801275 could provide a basis for predicting the onset of asthma in clinical children. |
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