Single nucleotide polymorphisms of the genes encoding IL-10 and TGF-Beta1 in Iranian children with atopic dermatitis

Background: Atopic dermatitis is an inflammatory skin disease in which both genetic and environmental factors interact to determine the susceptibility and severity of the disease. Objective: The aim of this study was to determine the association between atopic dermatitis and IL-10 and TGF-Beta1 gene polymorphisms. Methods: The allele and genotype frequencies of genes encoding for IL-10 and TGF-Beta1 were investigated in 89 patients with atopic dermatitis in comparison with 138 in the control group using the PCR-SSP method. Results: A significant increase was found in the frequency of the TGF-Beta1 codon 10/C allele among patients (p < 0.001, OR = 6.77), whereas a significant decrease was observed in the frequency of the T allele at the same position (p < 0.001, OR = 0.14). The frequency of the TGF-Beta1 codon 25/G allele in the control group was significantly higher than among patients (p < 0.001, OR = 0.08). A significant positive correlation was seen between CC (p < 0.001, OR = 15.10) and CG (p < 0.001) genotypes and AD at codons 10 and 25, respectively. The most frequent haplotypes among patients was TGF-Beta1 CG which was significantly higher than in the control subjects (50% in patients vs. 39.9% in controls, p = 0.042). A significant increase was found in the frequency of TGF-Beta CC (36% in patients vs. 7.6% in controls, p < 0.001) and TC (14% in patients vs. 0% in controls, p < 0.001) haplotypes among patients compared to controls. By contrast, the TGF-Beta1 TG haplotype was significantly lower in patients than controls (0% in patients vs. 52.5% in controls, p < 0.001). There were no significant differences in the frequency of alleles, genotypes and haplotypes of the IL-10 gene. Conclusions: We found a strong association between the polymorphisms of the TGF-Beta1 gene at codon 10 and codon 25 positions and atopic dermatitis (AU)

No disponible

Single nucleotide polymorphisms of the genes encoding IL-10 and TGF-ß1 in Iranian children with atopic dermatitis.

BACKGROUND: Atopic dermatitis is an inflammatory skin disease in which both genetic and environmental factors interact to determine the susceptibility and severity of the disease. OBJECTIVE: The aim of this study was to determine the association between atopic dermatitis and IL-10 and TGF-ß1 gene polymorphisms. METHODS: The allele and genotype frequencies of genes encoding for IL-10 and TGF-ß1 were investigated in 89 patients with atopic dermatitis in comparison with 138 in the control group using the PCR-SSP method. RESULTS: A significant increase was found in the frequency of the TGF-ß1 codon 10/C allele among patients (p<0.001, OR=6.77), whereas a significant decrease was observed in the frequency of the T allele at the same position (p<0.001, OR=0.14). The frequency of the TGF-ß1 codon 25/G allele in the control group was significantly higher than among patients (p<0.001, OR=0.08). A significant positive correlation was seen between CC (p<0.001, OR=15.10) and CG (p<0.001) genotypes and AD at codons 10 and 25, respectively. The most frequent haplotypes among patients was TGF-ß1 CG which was significantly higher than in the control subjects (50% in patients vs. 39.9% in controls, p=0.042). A significant increase was found in the frequency of TGF-ß CC (36% in patients vs. 7.6% in controls, p<0.001) and TC (14% in patients vs. 0% in controls, p<0.001) haplotypes among patients compared to controls. By contrast, the TGF-ß1 TG haplotype was significantly lower in patients than controls (0% in patients vs. 52.5% in controls, p<0.001). There were no significant differences in the frequency of alleles, genotypes and haplotypes of the IL-10 gene. CONCLUSIONS: We found a strong association between the polymorphisms of the TGF-ß1 gene at codon 10 and codon 25 positions and atopic dermatitis.

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.

Infantile systemic hyalinosis (ISH) is an extremely rare genodermatosis, characterized by thickened skin, joint contractures and subcutaneous nodules. ISH is caused by mutations in the CMG2 gene, which encodes a protein of unknown function. In this report, we describe a patient with ISH, who was a twin born to a consanguineous Iranian couple, and who demonstrated unusual skin findings in addition to the characteristic features of ISH. Mutation analysis disclosed a homozygous deletion mutation, c.1074delT in CMG2, resulting in a frameshift and premature termination codon 50 amino acids downstream of the deletion. This information adds to the recurring nature of this mutation in ISH, with implications for genetic counselling in extended families with a history of this disease.

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

No disponible

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)

Preparation and assessment of chitosan-coated superparamagnetic Fe3O4 nanoparticles for controlled delivery of methotrexate.

In this study, Fe3O4 superparamagnetic nanoparticles were synthesized and stabilized by chitosan. Then the nanoparticles were characterized by Fourier transform infrared spectroscopy and transmission electron microscopy (TEM). Particle size distribution and Zeta potential of the particles also was assessed using Malvern Zetasizer. The paramagnetic behaviors of the uncoated and chitosan coated nanoparticles were measured using vibrating scanning magnetometry Particles morphology and size ranges of uncoated iron oxide nanoparticles were evaluated by TEM, showing uniform and narrow size distribution about 10 nm. After coating nanoparticles with chitosan and loading of methotrexate (MTX), the change in size was assessed using Zetasizer. Considerable increase in size was observed following the coating of the particles with chitosan and loading with MTX (the average size was 152 nm). Paramagnetic properties of the uncoated and chitosan-coated particles were assessed showing significant decrease in paramagnetic behavior after coating with chitosan, but it was enough to respond to the magnetic field. Finally loading efficiency, release rate and cytotoxicity of MTX were assessed indicating slow release behavior with the same levels of cell toxicity in SK-BR-3 cell lines, suggesting this formulation as a good candidate for the controlled delivery of MTX.