ABSTRACT: Background Primary immunodeficiencies (PID) are genetic diseases in which one or multiple components of the immune system, including cells (i.e. B cells, T cells, natural killer cells, phagocytes, complement components) or molecules (cytokines, chemokines, etc) are affected, leading to a low capacity to eliminate microorganisms and a high susceptibility to infection diseases. Most of the PID are multifactorial entities were the environmental and multiple genetic factor are involved. The single nucleotide polymorphisms (SNPs) analysis in case and control groups has been increasing the knowledge of the etiopathogenesis of several diseases and the opportunity to identify molecular markers useful in the clinical diagnosis. Methods We performed a case control study including 19 pediatric patients with IgE deficiency (5 U/mL), and 180 healthy controls. 25 SNPs distributed in the IL-13, IL-10, IL-5, IL4, FCER1B, INF ?, GM-CSF, STAT 3, GATA 3 and TIK-2 were analyzed. Genotyping was performed using sondas TaqMan. Hardy-Weinberg Equilibrium (HWE) and statistical significance were evaluated using FINETTI and STATCAL software. Results All genotypes, both in cases and controls were in HWE. We documented statistically significant differences in the distribution of the SNPs located in IL-4 rs4986964, P = 0.018, OR = 14.74, IL-4R, rs18005010, P = 0.018, OR = 2.22, FCER-1B, rs556917, P = 0.00001, OR = 16.9, GM-CSF, STAT-3 and GATA-3 genes: GMFCS-130 (P = 4986964, OR = 0.22), STAT-3 rs2293152 (P = 5.06 × 10?9, OR = 6.18), GATA-3 rs2229360 (P = 0.005, OR = 13.52). The highest difference was found in the T allele of rs556917, which was more frequent in cases than controls (42.1 and 1.5%, respectively, P = 0.00001 OR = 16.907, 95% CI, 5.02-54.93). Interestingly, the C allele of 4986964 (IL-4) increased significantly in homozygote genotype (C: OR = 14.74, 95% CI, 2.38-91.234, P = 0.018 to CC OR = 29.4, 95% CI, 1.154-749.32, P = 0.002). Conclusions Our results suggest that SNPs located in the genes involved in the IgE production are risk genetic factor to IgE immunodeficiency. Increasing of the sample size is currently to get solid conclusions.
