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Henoch-Schönlein purpura (HSP) is the most common form of systemic small-vessel vasculitis in children, and HSP nephritis (HSPN) is a major complication of HSP and is the primary cause of morbidity and mortality. Previous studies have suggested that inducible nitric oxide synthase (iNOS) may play an important role in the pathogenesis of HSP. In this study, we performed a detailed analysis to investigate the potential association between iNOS polymorphisms and the risk of HSP and the tendency for children with HSP to develop HSPN in a Chinese Han population. A promoter pentanucleotide repeat (CCTTT)n and 10 functional single-nucleotide polymorphisms (SNPs) from 532 healthy controls and 513 children with HSP were genotyped using the MassARRAY system and GeneScan. The results suggested that the allelic and genotypic frequencies of the rs3729508 polymorphism were nominally associated with susceptibility to HSP. In addition, there was a significant difference in the allelic distribution of the (CCTTT)12 repeats and rs2297518 between the HSP children with and without nephritis; the HSP children with nephritis exhibited a significantly higher frequency of the (CCTTT)12 repeats and A allele of rs2297518 than the HSP children without nephritis ( P FDR  = 0.033, OR = 1.624, 95% CI = 1.177–2.241 and P FDR  = 0.030, OR = 1.660, 95% CI = 1.187–2.321, respectively). Conclusion : Our results support that iNOS polymorphisms are associated with the risk of HSP and may strongly contribute to the genetic basis of individual differences in the progression to nephritis among children with HSP in the Chinese Han population. What is Known: • The etiology of HSP is unknown, but the genetic factors may play an important role in the pathogenesis of HSP . • iNOS could contribute to the development and clinical manifestations of HSP, and this has not been studied extensively so far . What is New: • Our results support that iNOS polymorphisms not only are associated with HSP risk but also strongly contribute to the genetic basis of individual differences in the progression of HSP to nephritis among Chinese Han children .

The frequency and ethnic variation of Henoch-Schönlein purpura, Kawasaki disease, and rarer vasculitides during childhood are not well characterised. Our aim was to ascertain the incidence and ethnic distribution of these conditions in children resident in a region of the UK with a diverse ethnic mix. 1·1 million children younger than age 17 years live in the West Midlands. Between Sept 1, 1996, and Aug 31, 1999, we surveyed this population with monthly questionnaires sent to 321 consultants, a single questionnaire sent to 2860 family doctors, and review of 406 case notes with diagnostic codes for vasculitis. We included in the analyses children who fulfilled established criteria for vasculitis with disease onset during the study, and calculated incidence rates from population rates derived from the census of 1991. We identified 586 new instances of vasculitis and connective tissue disease. The estimated annual incidence of Henoch-Schönlein purpura was 20·4 per 100 000, and was highest between the ages of 4 years and 6 years (70·3 per 100 000). The estimated annual incidence of Kawasaki disease was 5·5 per 100 000 in children younger than 5 years, and was highest in Indian subcontinent Asian children (14·6 per 100 000). Indian subcontinent Asian and black children had the highest incidence of systemic lupus erythematosus, juvenile dermatomyositis, and other primary systemic vasculitides. Childhood Henoch-Schönlein purpura is more frequent in the West Midlands than previously reported, and Kawasaki disease has a higher incidence than previously indicated in the UK, with the highest incidence in Indian subcontinental Asian children. Other vasculitis is rare in childhood.

Previous studies suggested that interleukin-17 and Th17 cell play an important role in the pathogenesis of childhood Henoch–Schonlein purpura (HSP). The purpose of our study is to elucidate whether the IL17A and IL17F gene polymorphisms are susceptibility genes for the development of HSP in Chinese children. A total of 148 HSP patients and 202 controls were enrolled for analyzing the single nucleotide polymorphisms (SNP) of IL17A (rs2275913, rs8193037 and rs3819025) and IL17F (rs763780 and rs9463772). TaqMan Real-Time polymerase chain reaction method was used in SNP genotyping. Compared to the healthy controls, the IL17A rs2275913 variant allele A showed a significant association with HSP [odds ratio (OR) 0.70; 95 % CI 0.51–0.94, P  = 0.018]. Genotyping analysis demonstrated rs2275913 was associated with a decreased HSP risk (G/A vs. G/G: OR 0.56; 95 % CI 0.33–0.95; A/A vs. G/G: OR 0.46; 95 % CI 0.24–0.86; P  = 0.032). Also, our findings showed that the A allele of IL17A rs3819025 was associated with a higher risk of HSP nephritis (OR 1.61; 95 % CI 1.00–2.58; P  = 0.047). In addition, a risk haplotype of IL17A (GGA) was found (OR 1.84; 95 % CI 1.17–2.88; P  = 0.008). However, no significant differences between HSP patients and healthy controls were observed when comparing genotype, allele or haplotype frequencies of the IL17F rs763780 and rs9463772 polymorphisms. In this study, we confirmed that the rs2275913 polymorphism of the IL17A gene was associated with susceptibility to HSP in Chinese children. However, there was no relationship between IL17F rs763780 and rs9463772 polymorphisms and HSP susceptibility.

Background Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children. Methods The study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products. Results Patients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls. Conclusions MEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.

Henoch-Schönlein purpura (HSP), a common allergic hemorrhagic disease, occurs frequently in children affecting kidney, joint and skin. While interleukin-8 (IL-8) plays an important role in inflammation, the association between IL-8 gene +781 C/T polymorphism and HSP remains unclear. Interleukin-8, an important chemokine related to the initiation and amplification of acute inflammatory responses, has been reported to be involved in the pathogenesis of some autoimmune and inflammatory diseases. In this study, we aimed to investigate whether IL-8 gene +781 C/T (rs2227306) polymorphism has an influence on susceptibility and clinical manifestations of patients to HSP. This hospital-based case-control study comprised 192 patients with HSP and 202 healthy controls. The genotypes of IL-8 gene +781 C/T polymorphism were identified using PCR-TaqMan method. All genotype frequencies of both groups (patients and controls) conformed to the Hardy-Weinberg equilibrium. No significant differences in allele or genotype frequencies of IL-8 gene +781 C/T polymorphism were observed between patients with HSP and controls (p=0.98, χ2=0.000 and p=0.49, χ2=1.432, respectively). When patients were stratified for the presence of joint, gastrointestinal and renal manifestations, genotype frequencies of IL-8 gene polymorphism were found no statistically significant differences (p>0.05). Our findings do not support that IL-8 gene +781 C/T polymorphism has an effect on the susceptibility to HSP in Chinese children.

Henoch-Schönlein purpura (HSP) is one of the most common forms of small-vessel vasculitis in childhood, and renal involvement (HSP nephritis, HSPN) is the main determinant of morbidity after acute phase. Considering the racial diversity and clinical heterogeneity in the prevalence, genetic factors might play a role in pathogenesis of HSP and HSPN. Direct sequencing was performed after PCR amplification of all 8 exons of the NPHS2 gene in 20 Chinese children with HSPN and 30 controls in present study. The genetic analyses revealed 3 polymorphisms (954T > C heterozygous, 1038A > G heterozygous and homozygous, all in exon 8) in 7 out of 20 patients studied, but there was no significant difference in the genotypic and allelic frequencies of these polymorphisms between the patients and controls. The result did not support the possible role of the NPHS2 gene in susceptibility to HSPN in the population studied. Studies in a larger sample population with different genetic backgrounds will be necessary in the future.

The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNP) within MEFV gene and Henoch–Schönlein purpura (HSP) risk, and the impact of SNP–SNP interaction on HSP risk in Chinese children. A total of 662 subjects with a mean age of 7.9 ± 2.4 years old were selected, including 320 HSP patients and 342 normal controls. Logistic regression was performed to investigate association between SNP and HSP risk, and generalized multifactor dimensionality reduction (GMDR) was used to analyze the SNP–SNP interaction. Logistic analysis showed a significant association between genotypes of variants in rs3743930 and increased HSP risk. The carriers of homozygous mutant of rs3743930 polymorphism revealed increased HSP risk than those with wild-type homozygotes; OR (95% CI) was 1.55 (1.23–1.85). GMDR analysis suggested a significant two-locus model ( p  = 0.0107) involving rs3743930 and rs28940580, indicating a potential SNP–SNP interaction between rs3743930 and rs28940580. Overall, the two-locus models had a cross-validation consistency of 10 of 10 and had the testing accuracy of 60.72%. Subjects with rs3743930-GC or CC and rs28940580-GA or AA genotype have the highest HSP risk, compared to subjects with rs3743930-GG and rs28940580-GG genotype; OR (95% CI) was 2.13 (1.52–2.89). The variants in rs3743930 and interaction between rs3743930 and rs28940580 were associated with increased HSP risk in Chinese children.