BACKGROUND: Previous studies showed the role of vitamin D (Vit D) on the progression of chronic urticaria. To the best of our knowledge, there are no other results regarding the contribution of single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) and vitamin D binding protein (VDBP) genes in chronic urticaria (CU). AIM: In the present study, we investigated the Vit pathway and the association between VDR and VDBP gene polymorphisms and CU risk in Iranian population. METHODS: All participating individuals in the present study were evaluated for serum Vit D and VDBP concentration VDR rs1544410 and rs2228570 and VDBP rs7041using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The associations of studied analytes and three SNPs with clinical and laboratory outcomes were investigated in CU patients. RESULTS: Patients with CU showed lower Vit D compared to controls (19.26 ± 1.26 vs. 31.72 ± 7.14 ng/ml, P-value = 0.006). There was a significant correlation between Vit D levels and urticaria activity score. Serum VDBP was significantly higher in CU patients than controls (1317.3 ± 183.71 vs. 395.77 ± 12.96 µg/ml, P-value <0.0001) and had a positive correlation to progression of CU. The A allele of this polymorphism might be a potential risk factor for progression of CU [odds ratio 4.3434, 95% confidence interval (1.7331-10.8852), Z-statistic = 3.133, P-value = 0.0017]. CONCLUSION: In summary, this study demonstrated that change in Vit D pathway in the level of gene or protein may be a risk factor for progression of CU.
Calcitriol/blood , Urticaria/blood , Urticaria/genetics , Vitamin D-Binding Protein/blood , Adult , Case-Control Studies , Chronic Disease , Disease Progression , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Receptors, Calcitriol/genetics , Risk Factors , Vitamin D-Binding Protein/genetics , Young Adult
INTRODUCTION: Asthma is one of the diseases which has a high prevalence in developed and developing countries. The relationship between asthma and obesity has always been focused by researchers. In this field, adipokines, especially adiponectin and leptin have highly attended by the scientist. The aim of this study was to determine the serum level of adiponectin, leptin and the leptin/adiponectin ratio in asthmatic patients and its relationship with disease severity, lung function and BMI (body mass index). METHODS: In this cross-sectional study, 90 asthmatic women admitted to the tertiary referral hospital in Kurdistan province - Iran, were examined. First, BMI was measured and then pulmonary function tests were performed in all asthmatics patient. Forced expiratory volume in 1s (FEV1), forced vital capacity (FVC), and FEV1/FVC, were measured. At the end, blood samples were collected and serum level of adiponectin and leptin were measured by ELISA method. RESULT: Serum leptin and leptin/adiponectin levels correlated positively with asthma severity and BMI (p = 0.0001), but there was no correlation between adiponectin level with asthma severity and BMI (p > 0.05), also serum leptin and leptin/adiponectin levels inversely correlated with FEV1 and FVC in patient (p = 0.0001). CONCLUSION: Asthma is linked with obesity, and there is an association between asthma severity and BMI with serum leptin and leptin/adiponectin levels, but our results do not support a significant role of adiponectin in obesity or asthma
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Humans , Male , Female , Adiponectin/analysis , Leptin/analysis , Asthma/complications , Asthma/diagnosis , Vital Capacity/immunology , Obesity/complications , Enzyme-Linked Immunosorbent Assay , Body Mass Index , Cross-Sectional Studies/trends , Analysis of Variance
INTRODUCTION: Asthma is one of the diseases which has a high prevalence in developed and developing countries. The relationship between asthma and obesity has always been focused by researchers. In this field, adipokines, especially adiponectin and leptin have highly attended by the scientist. The aim of this study was to determine the serum level of adiponectin, leptin and the leptin/adiponectin ratio in asthmatic patients and its relationship with disease severity, lung function and BMI (body mass index). METHODS: In this cross-sectional study, 90 asthmatic women admitted to the tertiary referral hospital in Kurdistan province - Iran, were examined. First, BMI was measured and then pulmonary function tests were performed in all asthmatics patient. Forced expiratory volume in 1s (FEV1), forced vital capacity (FVC), and FEV1/FVC, were measured. At the end, blood samples were collected and serum level of adiponectin and leptin were measured by ELISA method. RESULT: Serum leptin and leptin/adiponectin levels correlated positively with asthma severity and BMI (p=0.0001), but there was no correlation between adiponectin level with asthma severity and BMI (p>0.05), also serum leptin and leptin/adiponectin levels inversely correlated with FEV1 and FVC in patient (p=0.0001). CONCLUSION: Asthma is linked with obesity, and there is an association between asthma severity and BMI with serum leptin and leptin/adiponectin levels, but our results do not support a significant role of adiponectin in obesity or asthma.
Adiponectin/blood , Asthma/blood , Leptin/blood , Adult , Asthma/complications , Biomarkers/blood , Body Mass Index , Cross-Sectional Studies , Enzyme-Linked Immunosorbent Assay , Female , Humans , Obesity/complications , Respiratory Function Tests
Ataxia-telangiectasia (AT) and hyper-immunoglobulin M (HIGM) syndrome are both primary immunodeficiency diseases caused by different genetic defects. While a small proportion of AT patients have increased serum immunoglobulin (Ig) M concentrations during the course of a disease, a high level of IgM at onset is rare. We report the case of an 8-year-old girl who had experienced recurrent respiratory infection, cutaneous abscesses, and hepatosplenomegaly since the age of 2 years. She was diagnosed with HIGM based on the results of immunological studies, including low IgG and IgA levels and raised serum IgM concentrations. However, at the age of 4 years, a neurological examination revealed gait disturbance and telangiectatic lesions on the conjunctiva; therefore, a diagnosis of AT was suggested. In spite of regular intravenous immunoglobulin infusions and antimicrobial prophylaxis, the patient experienced several episodes of respiratory infection and eventually died of respiratory failure at the age of 8 years. Further molecular analysis revealed a novel homozygous missense mutation in exon 53 (c.8250C>T, p.2622Ala>Val) of the ATM gene. Patients with AT and the HIGM phenotype may not develop clinical characteristics of AT for some time. While patients with AT and increased serum IgM levels could have a considerably more severe disease course and a shorter survival, IgM levels could be considered a prognostic factor.
Ataxia Telangiectasia/diagnosis , Cell Cycle Proteins/genetics , DNA-Binding Proteins/genetics , Hyper-IgM Immunodeficiency Syndrome/diagnosis , Mutation/genetics , Protein Serine-Threonine Kinases/genetics , Respiratory Tract Infections/diagnosis , Tumor Suppressor Proteins/genetics , Ataxia Telangiectasia/complications , Ataxia Telangiectasia/drug therapy , Ataxia Telangiectasia/immunology , Ataxia Telangiectasia/physiopathology , Ataxia Telangiectasia Mutated Proteins , Cell Cycle Proteins/metabolism , Child , Child, Preschool , Conjunctiva/pathology , DNA-Binding Proteins/metabolism , Fatal Outcome , Female , Gait Disorders, Neurologic , Humans , Hyper-IgM Immunodeficiency Syndrome/complications , Hyper-IgM Immunodeficiency Syndrome/drug therapy , Hyper-IgM Immunodeficiency Syndrome/immunology , Hyper-IgM Immunodeficiency Syndrome/physiopathology , Immunoglobulin M/biosynthesis , Immunoglobulin M/genetics , Immunoglobulin M/immunology , Immunosuppression Therapy , Prognosis , Protein Serine-Threonine Kinases/metabolism , Recurrence , Respiratory Insufficiency , Respiratory Tract Infections/drug therapy , Respiratory Tract Infections/etiology , Respiratory Tract Infections/immunology , Tumor Suppressor Proteins/metabolism
