Correlation of polymorphism of surfactant protein-B gene in children with idiopathic interstitial lung disease / 中国小儿急救医学

ABSTRACT

Objective To investigate the distribution of surfactant protein-B(SP-B) gene single nucleotide polymorphisms and to clarify the correlation between SP-B gene polymorphisms and idiopathic interstitial lung disease(ILD) in children.Methods Sixty-seven children with idiopathic ILD(case group) and 102 children without idiopathic ILD(control group)were selected from October 2013 to September 2016 in Shenzhen Children's Hospital and the First Affiliated Hospital of Guangxi Medical University.Total exons and flanking region of SP-B were detected by high-throughput sequencing,genotype and allele distribution of exon 4(T131I)were analyzed.Results SP-B exon 4(T131I) genotypes could check out three genotypesnamely CC,CT and TT.The frequencies of genotype CC,CT and TT of exon 4(T131I) in the case group were 67.16%,25.37%,7.46%,and in the control group were 56.86%,35.29%,7.84%,respectively.There was no significant difference in genotype distribution between the two groups(χ2=1.981,P=0.371).Frequency of allele C was 79.85% in the case group and 74.51% in the control group,no significant difference showed between the two groups(χ2=1.288,P=0.256).In the control group,the mutation frequency of SP-B exon 4(T131I) was 43.14%(44/102),compared to the frequency of mutations in the population data in the thousands of human genome programs was 52.00%,in European was 53.88%,in South Asia was 45.50%,and in American was 41.93%(P>0.05);but the frequency of gene mutations was 26.39% in East Asia and 80.18% in Africa,there were significant differences compared to the control group(P<0.05).Conclusion The genetic polymorphism of SP-B exon 4(T131I)is not correlated with the susceptibility of idiopathic ILD in children.The mutation frequency of SP-B exon 4(T131I)is related to the race and the region.