RESUMO
BACKGROUND: Atopy results from the interaction between genetic and environmental factors. The aim of our study was to clarify the association between the FcRIint2 polymorphic variant, the Glu237Gly mutation in exon 7 of FcepsilonRIbeta and (-590 C/T) Il-4 gene promoter polymorphism with atopy in a randomized Polish sample. SUBJECTS AND METHODS: Unrelated subjects aged 18-45 years who were residents of an urban area (Lodz, Poland) were included in the study: 98 patients with asthma and/or allergic rhinitis, and 87 non-atopic, non-asthmatic controls. We used common criteria for atopy and asthma. Atopic status was determined by positive skin prick tests (SPT) and IgE levels. The severity of asthma was assessed in spirometric measurements; SPTs to house dust mite (HDM) and mixed grass pollen (MGP) were performed. Total and specific IgE were measured in each subject. Genotypic analysis was performed by PCR for FcRIint2 and (590 C/T) Il-4 gene promoter polymorphism and ARMS-PCR was performed for the Glu237Gly mutation. RESULTS: We found a statistically significant association between atopy and FcRIint2 variant polymorphism (OR = 2.96), a correlation between positive skin prick tests to MGP and raised MGP-specific IgE concentrations in patients bearing this variant (OR = 4.0). We did not observe that the FcRIint2 variant was associated with positive SPTs to HDM or high levels of HDM-specific IgE (OR = 1.0). The intronic variant of FcepsilonRIbeta was strongly correlated with elevated total serum IgE (OR = 4.74). No statistically significant association was found between atopy and the Glu237Gly mutation of FcepsilonRIbeta(OR = 1.36) or (-590 C/T) Il-4 gene promoter polymorphism (OR = 0.88). CONCLUSIONS: The results suggest that FcRIint2 polymorphism is related to atopy and may influence its development.
Assuntos
Hipersensibilidade Imediata/genética , Interleucina-4/genética , Receptores de IgE/genética , Adolescente , Adulto , Substituição de Aminoácidos , Asma/epidemiologia , Asma/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Hipersensibilidade Imediata/epidemiologia , Imunoglobulina E/sangue , Imunoglobulina E/imunologia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Mutação Puntual , Polônia/epidemiologia , Polimorfismo Genético , Regiões Promotoras Genéticas/genética , Receptores de IgE/fisiologia , Rinite Alérgica Perene/epidemiologia , Rinite Alérgica Perene/genética , Rinite Alérgica Sazonal/epidemiologia , Rinite Alérgica Sazonal/genética , Testes CutâneosRESUMO
Background: Atopy results from the interaction between genetic and environmental factors. The aim of our study was to clarify the association between the FcRIint2 polymorphic variant, the Glu237Gly mutation in exon 7 of FcεRIβ and (-590 C/T) Il-4 gene promoter polymorphism with atopy in a randomized Polish sample. Subjects and methods: Unrelated subjects aged 18-45 years who were residents of an urban area (Lodz, Poland) were included in the study: 98 patients with asthma and/or allergic rhinitis, and 87 non-atopic, non-asthmatic controls. We used common criteria for atopy and asthma. Atopic status was determined by positive skin prick tests (SPT) and IgE levels. The severity of asthma was assessed in spirometric measurements; SPTs to house dust mite (HDM) and mixed grass pollen (MGP) were performed. Total and specific IgE were measured in each subject. Genotypic analysis was performed by PCR for FcRIint2 and (590 C/T) Il-4 gene promoter polymorphism and ARMS-PCR was performed for the Glu237Gly mutation. Results: We found a statistically significant association between atopy and FcRIint2 variant polymorphism (OR = 2.96), a correlation between positive skin prick tests to MGP and raised MGP-specific IgE concentrations in patients bearing this variant (OR = 4.0). We did not observe that the FcRIint2 variant was associated with positive SPTs to HDM or high levels of HDM-specific IgE (OR = 1.0). The intronic variant of FcεRIβ was strongly correlated with elevated total serum IgE (OR = 4.74). No statistically significant association was found between atopy and the Glu237Gly mutation of FcεRIβ (OR = 1.36) or (-590 C/T) Il-4 gene promoter polymorphism (OR = 0.88). Conclusions: The results suggest that FcRIint2 polymorphism is related to atopy and may influence its development (AU)
Información básica: Resultados de atopia de la interacción de factores genéticos y ambientales. El objetivo de nuestro estudio era esclarecer la asociación entre la FcRIBeta variante polimorfa de Fc int2, la mutación Glu237Gly en el exón 7 de FcRIBeta y el polimorfismo del promotor génico (-590 C/T) Il-4 con atopia en una muestra polaca aleatorizada. Sujetos y métodos: Se incluyó en el estudio a sujetos de 18-45 años no emparentados, residentes en el área urbana (Lodz, Polonia): 98 pacientes con asma, rinitis alérgica o ambas y 87 controles no asmáticos y no atópicos. Utilizamos los criterios habituales para la atopia y el asma. El estado atópico se determinó por pruebas de punción cutánea positivas (spts) y las concentraciones de IgE. La gravedad del asma se evaluó con mediciones espirométricas; se realizaron spts frente a ácaros del polvo doméstico (hdm) y mezcla de polen de gramíneas (mgp). Se cuantificaron en cada sujeto los valores de IgE total y específica. Se efectuó un análisis de genotipo mediante PCR para FcRIBetaint2 y el polimorfismo del promotor génico (-590 C/T) Il-4, y ARMS-PCR para la mutación Glu237Gly. Resultados: Observamos una asociación estadísticamente significativa entre la atopia y el polimorfismo variante FcRIint2 (razón de posibilidades (RP = 2,96) y una correlación entre las pruebas de punción cutánea positivas frente a mgp y el aumento de las concentraciones de IgE específica para mgp en pacientes que albergaban la variante (RP = 4,0). No observamos que la variante FcRIint2 se asociase a spts positivas frente a hdm ni a concentraciones elevadas de IgE para hdm (RP = 1,0). La variante intrónica de FcRIBeta guardó una estrecha relación con la elevación de la IgE sérica total (RP = 4,74). No hubo una asociación estadísticamente significativa entre la atopia y la mutación Glu237Gly de FcRIBeta (RP = 1,36) o el polimorfismo del promotor génico (-590 C/T) Il-4 (RP = 0,88). Conclusiones: Los resultados indican que el polimorfismo de FcRIBeta int2 se relaciona con la atopia y puede influir en su desarrollo (AU)