Resumen de Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population

J. Chen, Q. Chen, C. Wu, Y. Jin

• Introduction and objectives To investigate whether genetic polymorphisms of C11orf30-LRRC32 region are associated with the development of childhood asthma in the Chinese population.

  Methods A total of 732 asthma children and 824 age-matched healthy controls were included in the study. Blood samples were collected from the subjects for total IgE analysis, DNA extraction and RNA extraction. Three previously reported asthma-related SNPs were genotyped, including rs7936070 (G/T), rs7927894 (A/G), and rs6592657 (A/G). Blood samples from 50 patients and 50 controls were randomly selected to detect the mRNA expression levels of C11orf30 and LRRC32 in serum.

  Results There were significantly different genotype frequencies between the two groups in terms of rs7936070 and rs7927894. Compared with controls, patients were found to have remarkably higher risk allele frequencies of rs7936070 and rs7927894. Genotype GG of rs7936070 was indicative of remarkably elevated total IgE level as compared with genotype TT and genotype GT. Similarly, genotype AA of rs7927894 was also associated with significantly elevated total IgE level. The serum expression of C11orf30 was significantly lower in the patients than in the controls. The C11orf30 expression was significantly correlated with the total IgE level (r = −0.463, p = 0.01).

  Conclusions Variants of C11orf30 were associated with the risk of childhood asthma in the Chinese population. Besides, abnormally decreased expression of C11orf30 was detected in the serum of patients, which was correlated with the total IgE level. The C11orf30 might play a role in asthma via biological pathways involving the regulation of total serum IgE level.