C1GALT1 polymorphisms are associated with Henoch–Schönlein purpura nephritis

He, Xuelian; Zhao, Peiwei; Kang, Shixiu; Ding, Yan; Luan, Jiangwei; Liu, Zhisheng; Wu, Yanxiang

doi:10.1007/s00467-012-2178-9

Cited by 17 publications

(8 citation statements)

References 25 publications

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“…Although the pathogenesis is poorly understood,[ 1 10 ] due to inflammations in small blood vessels and capillaries, the most likely candidates are IgA1 glycosylation, polymorphism in cytokines, and cell adhesion molecules. [ 1 9 21 22 ] Furthermore, the major histocompatibility complex (MHC) Class II genes have shown the most convincing genetic correlations with HSP and have been studied in different other autoimmune diseases such as systemic lupus erythematosus, Kawasaki, endometriosis, juvenile idiopathic arthritis (JIA), and Behçet's and Graves' disease (GD). [ 13 23 24 25 26 27 28 29 ]…”

Section: Discussionmentioning

confidence: 99%

HLA-DRB1 gene polymorphisms in Iranian children with Henoch-Schönlein purpura

2018

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Background:People of all ages can suffer from Henoch-Schönlein purpura (HSP), but it is the most common vasculitis in childhood. The most important involving gene is located on chromosome 6p21.3, a region coding for human leukocyte antigens (HLAs). Among HLA genes, because of the high rate of polymorphisms, HLA-DRB1 is estimated to have a strong association with HSP. In this study, we aimed to assess the association of HLA-DRB1 alleles with HSP in Iranian children.Materials and Methods:This study consisted of thirty Iranian children with HSP and 35 healthy controls. Genomic DNA was extracted, and HLA typing was performed by polymerase chain reaction with sequence-specific primers technique.Results:The results have shown that HLA-DRB1*01 and HLA-DRB1*11 (P = 0.002, odds ratio [OR] = 7.579, confidence interval [CI] = 1.934–29.697 and P = 0.039, OR = 3.333, CI = 1.030–10.788), respectively, are the most frequent alleles associated with HSP in Iranian children population. The frequency of other alleles was not significantly different in both groups. The results also show no correlation between HLA types and disease manifestations.Conclusion:According to these results, there is an association between HLA-DRB1*01 and HLA-DRB1*11 gene polymorphisms and susceptibility to HSP in our study group.

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Section: Discussionmentioning

confidence: 99%

HLA-DRB1 gene polymorphisms in Iranian children with Henoch-Schönlein purpura

2018

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“…Moreover, the rs1047763 (1365G/A) polymorphism of the C1GALT1 gene can promote Henoch-Schönleinpurpura nephritis (HSPN) development (He et al, 2012). Pirulli et al (2009) studied rs1047763 (1365G/A) and found that the 1365G allele and the 1365G/G genotype were correlated with IgAN susceptibility.…”

Section: Discussionmentioning

confidence: 99%

Relationship between rs1047763 polymorphism of the C1GALT1 gene and susceptibility to immunoglobulin A nephropathy in Xinjiang Uyghur people

Xue¹,

Guo²,

Song³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. We explored the relationship between rs1047763, a singlenucleotide polymorphism (SNP) of the C1GALT1 gene, and genetic susceptibility to immunoglobulin A nephropathy (IgAN) in Xinjiang Uyghur people. The study comprised 90 patients with IgAN and 90 normal controls recruited from Uyghur people. The distribution of the rs1047763 polymorphism of C1GALT1 in each group was determined by direct sequencing analysis. The gene type, gene frequency, allele type, and allele frequency were calculated by direct counting and the genotype was investigated using the Hardy-Weinberg equilibrium test. The SPSS17.0 software was used for data processing, and genotype and allele frequencies were compared using the χ 2 test. In the IgAN group, the AA, AG, and GG J.N. Xue et al. 18688©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18687-18694 (2015) genotype frequencies in the rs1047763 polymorphism of the C1GALT1 gene were 21.10, 47.80, and 31.10%, respectively, while AA, AG, and GG genotype frequencies in the control group were 17.8, 40.0, and 42.2%, respectively. There was no statistically significant difference between the two groups (P > 0.05). The rs1047763 SNP of the C1GALT1 gene probably has no correlation with genetic susceptibility to IgAN in Xinjiang Uyghur people.

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“…For all the patients with positive urine protein, ultrasonic guided renal needle biopsy with 18G biopsy needle was performed, immunofluorescence and pathologic examinations were performed according to the methods reported previously [19].…”

Section: Methodsmentioning

confidence: 99%

Diagnosis and treatment of adult mixed-type Henoch-Schönlein purpura

Cui

Huang

Guo

et al. 2019

cejoi

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Aim of the studyThe purpose of this study was to investigate the clinical manifestations and outcomes of patients with adult mixed-type Henoch-Schönlein purpura (HSP) and imaging characteristics of the disease, and to evaluate the efficacy of combined therapy in treating symptoms of HSP.Material and methodsFrom January 2008 to October 2015, 23 patients with adult mixed-type HSP were enrolled. Abdominal contrast-enhanced computed tomography (CT) examination and small intestinal enteroscopy were performed for all the patients. For patients with positive urine protein, ultrasonic guided renal needle biopsy with 18G biopsy needle was performed; immunofluorescence and pathologic examinations were performed. Combined therapy with antihistamine drugs, gastric acid suppressants and glucocorticoids was used to relieve abdominal pain, gastrointestinal tract bleeding and urine protein.ResultsThe typical skin manifestation of HSP is distributed purpura in dependent areas. Abdominal contrast-enhanced CT examination exhibited the intestinal canal wall thickening and edema. Small intestinal endoscopy showed diffused hyperemia, dropsy, and erosion. All the patients with positive urine protein showed significantly higher IgA levels. With the use of combined therapy, abdominal pain and gastrointestinal tract bleeding disappeared, and urine protein decreased gradually.ConclusionsHigher IgA levels with multiorgan involvement (gastrointestinal, kidney and skin) should make one consider the diagnosis. The combined examination of abdominal contrast-enhanced CT, small intestinal endoscopy and renal needle biopsy is a valuable method for the early diagnosis of adult mixed-type HSP.

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C1GALT1 polymorphisms are associated with Henoch–Schönlein purpura nephritis

Abstract: In conclusion, our study suggested that the 1365 G/A polymorphism of the C1GALT1 gene may contribute to HSPN development.

Cited by 17 publications

References 25 publications

HLA-DRB1 gene polymorphisms in Iranian children with Henoch-Schönlein purpura

HLA-DRB1 gene polymorphisms in Iranian children with Henoch-Schönlein purpura

Relationship between rs1047763 polymorphism of the C1GALT1 gene and susceptibility to immunoglobulin A nephropathy in Xinjiang Uyghur people

Diagnosis and treatment of adult mixed-type Henoch-Schönlein purpura

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