No abstract

Objective: Recent data have indicated the significance of vitamin D receptor (VDR) polymorphisms in type 1 diabetes mellitus (T1DM). We have studied the association of five known restriction enzyme polymorphisms of the VDR gene in patients with T1DM. Design and Methods: One hundred and seven children with T1DM (T1DM for 5 years; age, 1-14 years; boys/girls, 57/50; body mass index, 17:0^2:3 kg=m 2 ; haemoglobin A Ic (HbA Ic ), 7:87^1:05) and 103 healthy subjects were enrolled. The VDR polymorphisms ApaI, BsmI, FokI, TaqI and Tru9I ('a', 'b', 'f ', 't' and 'u' alleles respectively) were investigated. Results: The 't' and 'T' alleles miss the Hardy -Weinberg equilibrium ðP , 0:01Þ in control and diabetic populations; we therefore excluded this polymorphism from further analysis. We did not find a difference in the allele prevalence in T1DM patients and controls of any of the five polymorphisms. However, when the 'b', 'a' and 'u' alleles were simultaneously compared in girls, there was a significantly higher prevalence in patients with diabetes compared with controls ('b' þ 'a' þ 'u' present/absent: healthy, 0/53; diabetic, 13/37; P , 0:005). In boys the prevalence of 'b' þ 'a' þ 'u' genotype was similar in T1DM and controls. Conclusions: The impact of the 't' allele cannot be investigated in this study population. Not a single VDR polymorphism increases the susceptibility to T1DM. The common presence of the 'b', 'a' and 'u' alleles greatly increases the probability of T1DM in girls.

In this cohort of Hungarian children there was no association between - 28G, and - 403A alleles in the RANTES promoter, - 2518G polymorphism in the distal regulatory region of the MCP-1 and AEDS, or allergy.

Tumor necrosis factor-alpha (TNF-alpha) is an inflammatory cytokine, which also influences blood pressure (BP). The G-308A polymorphism of the TNF-alpha gene is associated with altered TNF-alpha production. The prevalence of the TNF-alpha-308A allele is reportedly higher among patients with type 1 diabetes mellitus (T1DM) than in the healthy population. In this study we investigated whether this genetic polymorphism might correlate with BP values in diabetic adolescents. Ambulatory BP monitoring (ABPM) was performed in 126 adolescents with T1DM (mean age: 14 +/- 2.4 years). The TNF-alpha G-308A genotype was determined by using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methodologies. ABPM results were related to healthy reference values and are given as standard deviation score (SDS). The prevalence of the -308A allele was higher in diabetic adolescents than the Hungarian reference population (0.26 vs 0.14, p < 0.01). TNF-alpha genotype was associated both with systolic and diastolic BP values (p < 0.01 and p < 0.01, respectively). In patients with TNF-alpha-308GG and -308GA/AA genotypes, the 24-h systolic BP average values were 0.37 +/- 1.33 and -0.38 +/- 1.28 SDS, while 24-h diastolic BP average values were 0.09 +/- 1.30 and -0.67 +/- 1.31 SDS. Hence, the TNF-alpha-308A allele carrier state appears to be associated with lower systolic and diastolic BP values.

Aims: To investigate whether the presence of the CCR5∆32 allele was associated with atopy or asthma. Methods: A total of 118 children with asthma, 145 children with non-asthmatic, but allergic phenotype, and 303 children without allergic or asthmatic disorders were studied. Results: There were no significant differences in the frequency of CCR5∆32, or in the distributions of genotypes between the groups. The relative eosinophil blood count was slightly lower in patients with heterozygous genotype, than in patients with wild type genotype. Conclusion: No association was found between the susceptibility of allergy or asthma and the functional deficient CCR5∆32 allele.A sthma is a pulmonary disease characterised by increased bronchial responsiveness to a variety of stimuli. Chemotactic cytokines, or chemokines, are small signalling proteins which are deeply involved in the physiology and pathophysiology of acute and chronic inflammatory processes, by attracting and stimulating specific subsets of leukocytes. Several studies have shown that chemokines and their receptors are implicated in asthma. 1A common 32 base pair (bp) deletion mutation in the CC chemokine receptor 5 gene (CCR5∆32), which causes truncation and loss of CCR5 receptors on lymphoid cell surfaces has been described.2 Two recent studies in the Lancet have reported controversial results about the prevalence and role of the CCR5∆32 mutation in asthmatic individuals. Hall et al have reported an association of the CCR5∆32 allele with reduced risk of asthma in Scottish children, 3 while Mitchell et al found no significant association for atopy or asthma/wheeze in families from Western Australia and Southern England. 4 Given the potential importance of CCR5 in allergic inflammation, we determined the prevalence of the CCR5∆32 mutation in three groups of Hungarian children. METHODSA total of 118 asthmatic children (aged 3-18 years, mean 10.1 (SD 3.5) years), 145 non-asthmatic, allergic children (aged 1-18 years, mean 5.4 (SD 3.8) years), and 303 children of comparable age without atopic or allergic disorders were enrolled in the study.The asthmatic children attended the Allergic Outpatient Consultation of the Budai Children's Hospital. All the asthmatic children had specialist physician diagnosed asthma with the following characteristics: (1) recurrent breathlessness and expiratory dyspnoea requiring treatment; (2) physician diagnosed wheeze; and (3) reversibility of the wheezing and dyspnoea by bronchodilator treatment, measured as forced expiratory volume in one second (FEV 1 ) by a spirometer (Piston).The non-asthmatic allergic children attended the Allergic Outpatient Consultation of Heim Pál Pediatric Hospital. All the allergic children had specialist physician diagnosed allergy with the following criteria: (1) clinical signs of severe allergy (including allergic rhinitis, atopic dermatitis, food allergy, and urticaria); and (2) atopy (defined as described elsewhere 5 ). The control children were selected from patients in the Heim Pál Pediatric Hospita...