Association of single nucleotide polymorphisms in interleukin 12 ( IL-12A and -B) with asthma in a Chinese population

Abstract

Increasing evidence has indicated that genetic variants may contribute to immune dysregulation and susceptibility to noninfectious inflammatory diseases. Cytokines, including interleukin 12 (IL-12), play a key role in the regulation of the immune system. The aim of this study was to investigate whether single nucleotide polymorphisms (SNP) in IL- 12A and IL-12B were associated with asthma in a Chinese population. Genotype characteristics were determined in 197 asthma patients and 369 controls by the polymerase chain reaction–restriction fragment length polymorphism method and DNA sequencing assay. The genotype and allele frequencies of IL-12A rs568408 demonstrated significant differences between cases and controls ( p < 0.001). The AC genotype of rs3212227 was associated with a significantly decreased risk of asthma compared with the AA genotype ( p = 0.036). The subjects carrying combined genotypes (rs568408 AG and rs3212227 AC/CC) at both loci had a 2.05-fold increased asthma risk compared with those carrying all other genotypes ( p = 0.001). In contrast, individuals carrying combined genotypes of rs568408 GG and rs3212227 AC/CC were associated with a significantly decreased risk of asthma compared with those carrying the combined genotypes of rs568408GG and rs3212227AA ( p = 0.009). No significant difference was reported for rs2243115 between cases and controls. These results suggest that the SNPs in IL-12A rs568404 and IL-12B rs3212227 may individually and jointly contribute to the risk of asthma in a Chinese population.