Association of single nucleotide polymorphisms of interleukin-1 family with atopic dermatitis

BACKGROUND: Interleukin-1 (IL-1) seems to have an important role in early reactions towards microbes, while its genetic variability could affect this role in atopic patients who have a distressed immunity towards dermatological infections. METHODS: Eighty-nine patients with atopic dermatitis (AD), who were referred to a main referral paediatric hospital, were enrolled in this study. Single nucleotide polymorphisms (SNP) of the following IL-1 cluster genes were assessed in this group of patients: IL-1α −889, IL-1β −511, IL-1β +3962, IL-1R Pst-I 1970, and IL-1RA Mspa-I 11100. The results were compared with a group of 140 healthy subjects from the same region. RESULTS: Fourteen percent of the controls had TT homozygous genotype in IL-1R at position Pst-I 1970, while only 2% of the patients with AD had this genotype (p = 0.005, OR: 0.14, 95%CI: 0.02-0.64). The CC homozygous genotype was the most common genotype in IL-1α position −889 and IL-1β at position +3962 in both groups of patients with AD and the controls, while the TC heterozygous genotype was the most common genotype in IL-1β at position −511 and IL-1R at position Pst-I 1970, with no significant difference between the two groups. CONCLUSIONS: This study showed a significant negative association in the IL-1R Mspa-I 11100 TT homozygous genotype in the patients with AD

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Association of single nucleotide polymorphisms of interleukin-1 family with atopic dermatitis.

BACKGROUND: Interleukin-1 (IL-1) seems to have an important role in early reactions towards microbes, while its genetic variability could affect this role in atopic patients who have a distressed immunity towards dermatological infections. METHODS: Eighty-nine patients with atopic dermatitis (AD), who were referred to a main referral paediatric hospital, were enrolled in this study. Single nucleotide polymorphisms (SNP) of the following IL-1 cluster genes were assessed in this group of patients: IL-1α -889, IL-1ß -511, IL-1ß +3962, IL-1R Pst-I 1970, and IL-1RA Mspa-I 11100. The results were compared with a group of 140 healthy subjects from the same region. RESULTS: Fourteen percent of the controls had TT homozygous genotype in IL-1R at position Pst-I 1970, while only 2% of the patients with AD had this genotype (p=0.005, OR: 0.14, 95%CI: 0.02-0.64). The CC homozygous genotype was the most common genotype in IL-1α position -889 and IL-1ß at position +3962 in both groups of patients with AD and the controls, while the TC heterozygous genotype was the most common genotype in IL-1ß at position -511 and IL-1R at position Pst-I 1970, with no significant difference between the two groups. CONCLUSIONS: This study showed a significant negative association in the IL-1R Mspa-I 11100 TT homozygous genotype in the patients with AD.

Association between the interleukin 6 genotype at position -174 and atopic dermatitis.

BACKGROUND: Atopic dermatitis (AD) is a chronic skin disorder of unknown origin that usually manifests for the first time in early infancy. Different types of genetic predisposition and environmental factors seem to be associated with the disease. METHODS: This study was performed to evaluate the frequency of alleles, genotypes, and haplotypes of interleukin (IL) 6 single-nucleotide polymorphisms (SNPs) at positions -174 and nt565 in 89 Iranian children with AD and 139 healthy controls. RESULTS: The G allele was significantly more frequent at position -174 in IL6 in atopic patients than in the healthy controls (P < .001; OR, 2.82). Genotype GG was found at the same position in 71% of the patients; this frequency was significantly higher than the frequency of 30% recorded in the controls (P < .001; OR, 5.60). The GG haplotype of IL6 (-174, nt565) was significantly more frequent in the atopic patients than in the healthy controls (P < .001; OR, 2.99). CONCLUSIONS: A significant increase in the frequency of the G allele and GG genotype at position -174 of IL6 was found in patients with AD, thus suggesting that production of this cytokine is greater in atopic patients.

Association Between the Interleukin 6 Genotype at Position –174 and Atopic Dermatitis

Antecedentes: La dermatitis atópica (DA) es una alteración crónica de la piel de origen desconocido, que habitualmente comienza en la infancia. Diferentes predisposiciones y factores ambientales se asocian a esta enfermedad. Métodos: Este estudio se realizó en 89 niños iraníes con DA para evaluar la frecuencia de alelos, genotipos y haplotipos de polimorfismos genéticos simples (SNPs) de la IL6 en las posiciones 174 y nt565 en comparación con 139 controles sanos. Resultados: Observamos un incremento significativo del alelo G de la IL6 en la posición –174 en los pacientes con DA comparado con el grupo control (p<0.001, OR=2.82). El genotipo GG de la misma posición se encontró en el 71% de los pacientes frente al 30% en los controles (p<0.001, OR=5.60). También se observa un incremento significativo en el haplotipo GG de la IL6 (-174, nt565) en los pacientes con DA comparados con los controles sanos (p<0.001, OR=2.99). Conclusiones: En conclusión observamos un aumento significativo del alelo Gallele y del genotipo GG en la posición -174 de la IL6 en pacientes con DA, lo que podría sugerir un aumento de la producción de esta citocina en los pacientes con DA (AU)

Background: Atopic dermatitis (AD) is a chronic skin disorder of unknown origin that usually manifests for the first time in early infancy. Different types of genetic predisposition and environmental factors seem to be associated with the disease. Methods: This study was performed to evaluate the frequency of alleles, genotypes, and haplotypes of interleukin (IL) 6 single-nucleotide polymorphisms (SNPs) at positions –174 and nt565 in 89 Iranian children with AD and 139 healthy controls. Results: The G allele was significantly more frequent at position –174 in IL6 in atopic patients than in the healthy controls (P<.001; OR, 2.82). Genotype GG was found at the same position in 71% of the patients; this frequency was significantly higher than the frequency of 30% recorded in the controls (P<.001; OR, 5.60). The GG haplotype of IL6 (–174, nt565) was significantly more frequent in the atopic patients than in the healthy controls (P<.001; OR, 2.99). Conclusions: A significant increase in the frequency of the G allele and GG genotype at position –174 of IL6 was found in patients with AD, thus suggesting that production of this cytokine is greater in atopic patients (AU)

Pediatric patients with common variable immunodeficiency: long-term follow-up.

BACKGROUND: Common variable immunodeficiency (CVID) is the most common form of symptomatic primary immunodeficiency disease. It is characterized by hypogammaglobulinemia, increased predisposition to infections, autoimmunity, and cancer. OBJECTIVES: This study was performed to evaluate the clinical and immunological features of a group of pediatric patients with CVID. METHODS: The study population comprised 69 individuals with CVID diagnosed during childhood. RESULTS: The patients were followed up for a mean (SD) period of 5.2 (4.3) years. The mean diagnostic delay was 4.4 (3.6) years, which was significantly lower in patients who were diagnosed recently. Children were classified according to 5 clinical phenotypes: infections only (n=39), polyclonal lymphocytic infiltration (n=17), autoimmunity (n=12), malignancy (n=7), and enteropathy (n=3). Postdiagnosis survival (10-year) was 71%. CONCLUSIONS: The high percentages of pediatric patients with CVID in Iran may be due to the considerable prevalence of parental consanguinity in the region and an underlying genetic background.

Ultrasonographic diagnosis of urinary tract anomalies in neonates: a study among Iranian children.

AIM: The incidence of urinary tract anomalies varies in different population and depends on several factors such as underlying etiologies. The goal of this study was to investigate the incidence of abnormal urinary tract ultrasound findings in children with different etiologies. METHODS: In a case-series study, 100 neonates who were hospitalized in the Children's Hospital Medical Center with the different etiologies such as sepsis, icter, seizure, and respiratory distress were included. In all neonates, ultrasound study was performed by using 3.5-7.5 MHz probe and neonates with the diagnosis of urinary tract infection underwent DMSA scan and voiding cystourethrogram (VCUG). RESULTS: The mean age of neonates was 10.15+/-7.45 days and 56% of patients were male. The most frequent etiologies led to hospitalization were icter (37%), sepsis (35%), and infectious respiratory distress (10%). Abnormal sonographic findings were found in 5% of patients. The frequency of urinary tract anomalies in neonates with sepsis was higher than non-septic group (14.29% versus 0.0%, P=0.008). CONCLUSION: The incidence of urinary tract anomalies which detected by sonography in our population is higher than other reported studies and has strong relationship with the occurrence of neonatal sepsis.