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The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.

ABSTRACT: Current evidence shows that the CD40-CD40 ligand (CD40-CD40L) system plays a crucial role in the development, progression and outcome of systemic lupus erythematosus (SLE). The aim of this study was to investigate whether a CD40 gene single nucleotide polymorphism (SNP) is associated with SLE and CD40 expression in the Chinese population. We included controls (n?=?220) and patients with either SLE (n =205) in the study.The gene polymorphism was measured using Snapshot SNP genotyping assays and confirmed by sequencing. We analyzed three single nucleotide polymorphisms of CD40 gene rs1883832C/T, rs1569723A/C and rs4810485G/T in 205 patients with SLE and 220 age-and sex-matched controls. Soluble CD40 (sCD40) levels were measured by ELISA.There were significant differences in the genotype and allele frequencies of CD40 gene rs1883832C/T polymorphism between the group of patients with SLE and the control group (P?

SUBMITTER: Chen JM

PROVIDER: S-EPMC4608213 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.

Chen Jian-Ming JM Guo Jing J Wei Chuan-Dong CD Wang Chun-Fang CF Luo Hong-Cheng HC Wei Ye-Sheng YS Lan Yan Y

BMC genetics 20151016

<h4>Background</h4>Current evidence shows that the CD40-CD40 ligand (CD40-CD40L) system plays a crucial role in the development, progression and outcome of systemic lupus erythematosus (SLE). The aim of this study was to investigate whether a CD40 gene single nucleotide polymorphism (SNP) is associated with SLE and CD40 expression in the Chinese population. We included controls (n = 220) and patients with either SLE (n =205) in the study.<h4>Methods</h4>The gene polymorphism was measured using S ...[more]

PMID: 26474561

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Project description:Correlation between soluble vascular endothelial growth factor receptor-1 (sVEGFR-1) concentration, VEGFR1 gene polymorphisms and systemic lupus erythematosus (SLE) risk remains unclear. The present case-control study comprised 254 SLE patients, 385 other rheumatic diseases patients and 390 healthy controls. Serum levels of sVEGFR-1 were detected by enzyme-linked immunosorbent assay. Seven VEGFR1 genetic variants (rs2296188, rs9943922, rs2296283, rs7324510, rs9554322, rs9582036, rs9554320) were genotyped by KASP. Serum levels of sVEGFR-1 were up-regulated in SLE and positively correlated with disease activity. Furthermore, serum sVEGFR-1 presented a distinctive elevation in SLE in comparison with other rheumatic diseases. Frequencies of allele T of rs2296283 and allele G of rs9554322 were significant lower in SLE patients (P?=?0.003, P?=?0.004). Frequencies of genotypes TT of rs2296188 and rs2296283 were declined in patients compared with healthy controls (P?=?0.039, P?=?0.033). CC genotype of rs7324510 and rs9582036 was negatively correlated with SLE risk (OR?=?0.538, OR?=?0.508). Distribution of GG, GC, GG?+?GC genotypes of rs9554322 were different between SLE patients and healthy controls (P?=?0.027, P?=?0.036, P?=?0.010). Moreover, frequency of TC genotype of rs7324510 was higher in SLE patients with lupus headache (?2?=?9.924, P?=?0.039) and frequency of TC genotype of rs9943922 was lower in patients with cylindruriain (?2?=?7.589, P?=?0.026). Frequencies of allele C of rs7324510 and allele T of rs9943922 were decreased in SLE patients with cylindruria and hypocomplementemia, respectively (?2?=?4.195, P?=?0.041, ?2?=?3.971, P?=?0.046). However, frequency of allele C of rs9554322 was increased in SLE patients with pyuria (?2?=?11.702, P?=?0.001). In addition, SLE patients carrying GG, GC, CC genotypes for rs9554322 had higher levels of serum sVEGFR-1. In conclusion, serum sVEGFR-1 was elevated in SLE patients and may be a disease marker. VEGFR1 gene polymorphisms related to risk of SLE in a Chinese Han population.

Dataset Information

The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.

Publications

The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.

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