Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis

Abstract Background: Polymorphisms of the filaggrin 2 gene (rs 12568784 and rs 16899374) are associated with persistent atopic dermatitis in African American patients. Filaggrin 2 is a protein with a function similar to filaggrin and also encoded in the epidermal differentiation complex on chromosome 1q21. Objective: To evaluate the polymorphisms in the filaggrin 2 gene (rs 12568784 and rs 16899374) in children and adults with atopic dermatitis and to verify the association of these with the severity of the clinical picture, presence of other allergic diseases, and socio-demographic factors. Method: The study was carried out with patients and control group. Questionnaires were used to evaluate ethnicity, sex, age, family history, scoring, atopic dermatitis (SCORAD), among other parameters. Genotyping of the filaggrin 2 gene was performed by real-time polymerase chain reaction. Results: Forty-eight patients and 83 controls were evaluated. No correlation was found between the variables studied in patients with atopic dermatitis and polymorphisms, no significant difference between the prevalence of polymorphisms in the patients and in the control group p > 0.05. Study limits: The exclusive use of self-reported ethnicity information and the sample size. Results: The results of this work can be an incentive for the study of the polymorphisms in atopic dermaititis, considering the characteristic of the Brazilian multi ethnic population. Conclusion: This is an unpublished work in Brazil and the first study in the world to have a control group to evaluate alterations in the gene of filaggrin 2.

Caracterización epidemiológica de pacientes con sospecha de atopía, evaluados mediante Prick test: IX Región (2007-2009) / Epidemiological characterization of patients with suspicion of atopy, evaluated through Prick test: IX Region (2007-2009)

Las enfermedades alérgicas constituyen una importante causa de morbilidad en la población general. OBJETIVO: Describir la distribución de la sensibilización para AI y AA mediante Prick test (PT), en una población seleccionada de pacientes de la Región de la Araucanía con sospecha clínica de atopía, según sexo, edad, etnia y estación del año durante los años 2007 al 2009. PACIENTES Y MÉTODO: Estudio de corte transversal, en un muestreo no probabilístico por conveniencia de 3055 pacientes, derivados para estudio mediante PT, al Centro de Diagnóstico y Tratamiento de Enfermedades Respiratorias desde Enero 2007 a Diciembre 2009. El PT se realizó con técnica estandarizada para AI y/o AA. Los datos fueron ingresados en el programa Microsoft Excel y analizados con el programa Stata 10.0. RESULTADOS: De un total de 3055 pacientes, 53,9 por ciento son mujeres, 4,8 por ciento son de etnia mapuche. El promedio de edad 20,7+/-19,13 años con un rango de 1 a 93 años. Del total de pacientes, 45,2 por ciento presentaron sensibilización para AI, 2,3 por ciento para AA y un 21 por ciento para ambos. CONCLUSIONES: En la población estudiada, se observó mayor sensibilización al polvo de habitación. Destaca la sensibilización a Dermatofagoide pteronyssinus en la población masculina, presentando una diferencia estadísticamente significativa con respecto a la población femenina.

The allergic diseases constitute an important reason of morbidity in the general population. AIM: Describe the distribution of the sensitization for AI and AA through Prick test (PT), in a selected population of patients from the Araucanía Region with clinical suspicion of atopy, according to sex, age, ethnic group and season of the year, during the years 2007 to 2009. PATIENTS AND METHODS: Transversal cut study, in a non-probability sample of 3055 patients, derived for study through PT to the Center of Diagnosis and Treatment of Respiratory Diseases from January 2007 to December 2009. The PT was realized by standardized technique for AI and / or AA. The information was ingresed by the program Microsoft Excel and analyzed by the program Stata 10.0. RESULTS: Of a total of 3055 patients, 53,9 percent are women, 4,8 percent are Mapuche. The average of age 20,7 +/-19,13years with a range from 1 to 93 years. Of the total of patients, 45,2 percent presented sensitization for AI, 2,3 percent for AA and 21 percent for both. CONCLUSIONS: In the population studied, we observed increased sensitization to house dust. Stresses the Dermatophagoides pteronyssinus sensitization in the male population, showing a statistically significant difference compared to the female population.

A mixed longitudinal study of physical growth in children with atopic dermatitis.

BACKGROUND: Atopic dermatitis is a chronic, relapsing disorder associated with significant morbidity. Growth retardation is known to occur in children affected with atopic dermatitis. However, there is not enough Indian data for this disorder. AIMS: We conducted a longitudinal study to look for the effect of atopic dermatitis on growth attainment of Indian preschool children. METHODS: The growth patterns of 62 children, aged 3-5 years and suffering from atopic dermatitis were studied in terms of body weight, height and head circumference. Sixty-eight normal healthy children matched for age, sex and socioeconomic status were taken as controls. Every child was followed up at intervals of three months following a mixed longitudinal study design for the duration of one year. Severity of the disease was determined by the scoring atopic dermatitis (SCORAD) index. RESULTS: Growth velocities were lower in patients than in controls. Mean changes in body weight of patients of both sexes showed close similarity to controls. Mean values for height and head circumference were found to be significantly lower in girls than in the girls of the control group at majority of the age levels. In contrast, in boys, these values for the patients remained comparable or higher than in the boys of the control group at some of the ages. Girls had comparatively more severe disease than boys and they had lower values than boys for all the growth parameters assessed. CONCLUSION: Growth retardation was observed among children with a more severe form of the disease. Height of the affected children was compromised mostly, though a tendency for catch-up growth was observed. Severe forms of atopic dermatitis may impair a child's linear growth temporarily.