Filaggrin Single Nucleotide Polymorphisms in Atopic Dermatitis

Atopic Dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin in which no monogenic cause has been identified so far. Meanwhile Filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of FLG gene.Atopic dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin for which no monogenic cause has been identified so far. Meanwhile, the filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of the FLG gene. The frequencies of allele A in variants of rs3126065, rs2786680, and rs1933063 as well as allele C in variant rs3814300 were 100%. There was no significant difference between allele frequencies in variants rs2485518 and rs3814299. The only genotypes in variants of rs3814299 and rs2485518 were GG and CC, respectively, with no significant difference between the patients and controls. This study demonstrated that there was no significant association between polymorphisms of FLG gene variants and AD.</p

Association Between Single Nucleotide Polymorphisms of the Interleukin-4 Gene and Atopic Dermatitis

ABSTRACT Atopic dermatitis (AD) is an inflammatory skin disease in which both genetic and environmental factors seem to be involved. Several studies investigated the association of certain genetic factors with AD in different ethnic groups, but conflicting data were obtained. This study was performed to check the possible association between single nucleotide polymorphisms (SNPs) of interleukin 4 (IL-4) and the IL-4 receptor α chain (IL-4Rα) and AD in a group of Iranian patients. The allele and genotype frequencies of genes encoding for IL-4 and IL-4Rα were investigated in 89 patients with AD in comparison with 139 healthy controls, using methods based on polymerase chain reaction sequence-specific primers. The most frequent alleles of IL-4 in patients were T at -1098 (P&lt;0.001, odds ratio (OR)=2.35), C at -590 (P&lt;0.001, OR=4.84) and C at -33 (P=0.002, OR=2.08). The most frequent genotypes of IL-4 in patients were TT, CC, and CC at positions -1098 (P&lt;0.001, OR=3.59), -590 (P&lt;0.001, OR=31.25) and -33 (P&lt;0.001, OR=3.46), respectively. We found a significant lower frequency of GT at -1098 GT, TC at -590, and TC at -33 in patients. There were no statistically significant differences in the frequency of alleles and genotypes of IL-4Rα gene at position +1902. A strong positive association was seen between TCC haplotype and AD (68% in patients vs. 23.4% in controls, P&lt;0.001, OR=8.91). We detected a significantly lower frequency of TTC, GCC, and TTT haplotypes (P&lt;0.001, OR=0.02, P&lt;0.001, OR=0.40, P&lt;0.001, OR=0.39, respectively) in patients compared to controls. A significant association between the polymorphisms of the IL-4 gene promoter at positions -1098, -590, and -33 and AD was detected in the Iranian population. Key words: atopic dermatitis; polymorphism, single nucleotide; interleukin-4 gene</p

The Relationship between House Type and Truck Traffic with Allergic Rhinitis in Adolescents

Introduction: Although many studies have been conducted on allergic diseases, their risk factors including allergic rhinitis have not yet been fully understood. The present study aims to investigate the relationship between house type, floor, and frequency of truck traffic on the street of residences with allergic rhinitis in adolescents in Yazd. Materials and Methods: This cross-sectional study was conducted on 5141 adolescents aged 13-14 years, from February 2020 to June 2020, using the large-scale Global Asthma Network (GAN) survey data in Yazd. The data were collected electronically using the GAN standard questionnaire, and analyzed in SPSS software version 23 using descriptive and analytical statistics (Chi-square and logistic regression). The value of P < 0.05 was considered significant. Results: In this study, 11.2% of boys and 13.3% of girls had allergic rhinitis, indicating a significant difference by gender (P = 0.025). The prevalence of allergic rhinitis did not differ significantly according to the type of house (apartment or detached house with a yard) and the floor (P > 0.05). However, the prevalence of allergic rhinitis showed a significant correlation with the frequency of truck traffic on the street of residence (P = 0.001). If the truck passed through the street near the house almost all day, the chance of developing allergic rhinitis would be 2.4 times higher. Conclusion: The risk of allergic rhinitis increases with the frequent truck traffic from the street near the house, but the type of house and floor do not have a significant effect

Filaggrin Single Nucleotide Polymorphisms in Atopic Dermatitis

Atopic Dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin in which no monogenic cause has been identified so far. Meanwhile Filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of FLG gene.Atopic dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin for which no monogenic cause has been identified so far. Meanwhile, the filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of the FLG gene. The frequencies of allele A in variants of rs3126065, rs2786680, and rs1933063 as well as allele C in variant rs3814300 were 100%. There was no significant difference between allele frequencies in variants rs2485518 and rs3814299. The only genotypes in variants of rs3814299 and rs2485518 were GG and CC, respectively, with no significant difference between the patients and controls. This study demonstrated that there was no significant association between polymorphisms of FLG gene variants and AD.</p

Polymorphisms Of genes encoding interleukin-4 and its receptor are associated with chronic idiopathic urticaria

RATIONALE - Interleukin-4 (IL-4) has pivotal role in promotion of T helper2 responses. ll-4 is also an important regulator of adaptive immune responses. This study is aimed at investigating of association of polymorphisms in IL-4 and IL-4-receptor genes with susceptibility to CIU. METHODS - A matched case-control study was conducted on 89 patients with CIU and 138 healthy controls. Autologous serum skin test (ASST) was performed according to international standards. Total IgE levels, thyroid peroxidase antibodies (TPO) and anti thyroglobulin antibodies (ATG) were investigated using spectrophotometry and enzyme-linked immunosorbant-assay, respectively. Single nucleotide polymorphisms at following positions were genotyped using polymerase chain reaction: IL-4-1098T>G (rs243248), -590C>T (rs2243250), -33C>T (rs2070874), and IL-4-receptor+1902A>G (rs1801275). Estimated frequencies were compared between patients and controls. RESULTS - ASSTwas positive in 39 (43.8%) and abnormal TPO and ATG were found in 12 (13.4%) and 6 (6.7%) of patients which were significantly higher than controls (pT (OR 2.39, 95%CI (1.41 to 4.05), pT (OR 4.5, 95%CI (1.9 to 10.82)) and -33C>T (OR 3.46, 95%CI (1.88 to 6.43)), were significantly higher in CIU patients (pCONCLUSIONS - Polymorphisms in promoter region of IL-4 but not IL- 4-receptor gene confer susceptibility to CIU and may predispose patients to immune dysregulation

Polymorphisms Of genes encoding interleukin-4 and its receptor are associated with chronic idiopathic urticaria

<b>RATIONALE</b>\ud \ud - Interleukin-4 (IL-4) has pivotal role in promotion of T\ud helper2 responses. ll-4 is also an important regulator of adaptive immune responses. This study is aimed at investigating of association of polymorphisms\ud in IL-4 and IL-4-receptor genes with susceptibility to CIU.\ud \ud <b>METHODS</b>\ud \ud - A matched case-control study was conducted on 89 patients\ud with CIU and 138 healthy controls. Autologous serum skin test (ASST) was performed according to international standards. Total IgE levels, thyroid peroxidase antibodies (TPO) and anti thyroglobulin antibodies (ATG) were investigated using spectrophotometry and enzyme-linked\ud immunosorbant-assay, respectively. Single nucleotide polymorphisms at following positions were genotyped using polymerase chain reaction: IL-4-1098T>G (rs243248), -590C>T (rs2243250), -33C>T (rs2070874), and IL-4-receptor+1902A>G (rs1801275). Estimated frequencies were compared between patients and controls.\ud \ud <b>RESULTS</b>\ud \ud - ASSTwas positive in 39 (43.8%) and abnormal TPO and ATG\ud were found in 12 (13.4%) and 6 (6.7%) of patients which were significantly higher than controls (p<0.05). Mean serum level of IgE was 140.57 (IU/ml) in CIU patients which fell in normal range similar to controls. patients and controls. Among polymorphic sites in IL-4gene, only C allele\ud at -33C>T (OR 2.39, 95%CI (1.41 to 4.05), p<0.001) was significantly higher in patients compared to controls. CC genotype at -590C>T (OR 4.5, 95%CI (1.9 to 10.82)) and -33C>T (OR 3.46, 95%CI (1.88 to 6.43)), were significantly higher in CIU patients (p<0.0001).\ud \ud <b>CONCLUSIONS</b>\ud \ud - Polymorphisms in promoter region of IL-4 but not IL-\ud 4-receptor gene confer susceptibility to CIU and may predispose patients to immune dysregulation

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses. Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings. Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Results: Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients with BTK (P = .003) and activation-induced cytidine deaminase (P = .009) mutations. Paralysis following live polio vaccination was considerably higher in patients with μ heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P = .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P = .008). Conclusions: This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses