To explore the novel mutations associated with asthma in core family lines of Han Chinese children by using GWAS and transmission disequilibrium test. Core family lines with a proband affected with asthma were recruited for the family-based genome-wide association studies (GWAS). Peripheral blood samples were collected from the core family lines, and DNA was extracted for genotyping. TDT was used to analyze associations between asthma. Susceptibility genes were further assessed by gene-based analysis using ANNOVAR. Enrichment analysis was performed according to the differentially expressed genes. Three hundred eighty-seven single nucleotide polymorphism loci were identified in the samples from 89 core family lines of children with asthma, which could be annotated to the genes LINC01310, LRRC4C, and UTRN. Results of the TDT analysis showed the rs79186957 locus of the LRRC4C gene is associated with the development of asthma (P = 2.23 × 10−9, OR = 0.025, 95% CI: 0.003437–0.1819); the G allele was protective against asthma. The rs78742926, located in the intergenic between UTRN and EPM2A, is associated with susceptibility to asthma (P = 5.22 × 10−9), and the correlation between HLA-DRB1, HLA-DQA1, IL4R, and IL1RL1 and asthma was verified. rs79186957 in the LRRC4C intron and rs78742926 in the UTRN intergenic region are associated with asthma in Chinese Han children, and the G allele at the rs79186957 locus is a protective factor for asthma.
Su et al. (Tue,) studied this question.