Asma: polimorfismos relacionados con la predisposición a la patología en niños de Córdoba

Asthma is the most frequent chronic respiratory non-transmissible disease in children, where most of the exacerbations obey to an external trigger. Immune function associated genes are potentially involved in asthma. A considerable number of Single Nucleotide Polymorphisms (SNPs) have been detected in genome-wide association studies (GWA) and can be responsible for changes in the genetic expression (increase, decrease or no effect) in order to induce asthma. The objective was to analyze the presence of two SNP (rs7216389- chromosome 17q21- and rs2786098 –chromosome 1q31) in children diagnosed with asthma in the Allergy and Immunological division from the Children’s Hospital in Cordoba. Children of both sexes, under 18 years old, diagnosed with asthma were studied and according to the information obtained in the history, physical examination and PRICK tests were included as problem group (GP) (n=32). Control group (GC) (n=28) were healthy children under 18 years old. After the parents signed the informed consent and the children older than 7 gave their consent to participate in the work, blood samples were taken for DNA extraction, PCR performance and SNP rs 7216389 and 2786098 determination through digestion with restriction enzymes NsiI and HhaI respectively. From the restriction analysis, the frequencies of the different genotypes in the studied groups were obtained. Alleles with a cutting site were designated n and h for NsiI and HhaI and without a cutting site N and H for NsiI and HhaI respectively. At the HhaI polymorphic site, the Hh genotype was more abundant in GC than in GP (50,0% vs. 12,5%). On the other hand, the hh genotype was more abundant in the GP than in the GC (78,12% vs. 28,57% respectively). In the NsiI polymorphic site the groups showed a similar genotypic distribution. The allelic and genotypic frequencies for the two SNP rs 7216389 and 2786098 were established in the two case-control study populations from a sample from the city of Cordoba, Argentina. The association of these polymorphisms to the risk of suffering asthma in childhood was evidenced, being important for the future development of primary preventive strategies for the disease.