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Association of MASP2 levels and MASP2 gene polymorphisms with systemic lupus erythematosus.

ABSTRACT: Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disorder. MASP2 is a mediator that plays an important role in complement system. As dysregulation of the complement system has been demonstrated to correlate with SLE pathogenesis, the role of MASP2 in lupus has not been widely discussed. In the present study, serum levels of MASP2 were evaluated in 61 lupus patients and 98 healthy controls by training cohort, and then a validation cohort including 100 lupus, 100 rheumatoid arthritis, 100 osteoarthritis, 100 gout, 44 Sjogren's syndrome, 41 ankylosing spondylitis patients confirmed the findings. Receiver operating characteristic (ROC) curve analysis determined the discriminatory capacity for serum MASP2. PCR methods tested the association of MASP2 gene polymorphisms (rs7548659, rs17409276, rs2273346, rs1782455 and rs6695096) and SLE risk. Impact of polymorphism on MASP2 serum levels was evaluated as well. Results showed that serum levels of MASP2 were significantly higher in lupus patients and correlated with some clinical, laboratory characteristics in the training cohort, and were much higher as compared to that in different rheumatic diseases patients in the validation cohort. Serum MASP2 showed a good diagnostic ability for lupus. Genotype frequencies and allele frequency of polymorphisms rs7548659, rs2273346 were strongly related to SLE risk, and genotypes of rs17409276, rs1782455, rs76695096 were significantly correlated with lupus genetic susceptibility. Interestingly, patients carrying GA genotype of rs17409276, TT, TC genotype of rs6695096 showed higher levels of serum MASP2. The findings suggested that MASP2 may be a potential disease marker for lupus, and correlate with SLE pathogenesis.

SUBMITTER: Xu WD

PROVIDER: S-EPMC7521335 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Association of MASP2 levels and MASP2 gene polymorphisms with systemic lupus erythematosus.

Xu Wang-Dong WD Liu Xiao-Yan XY Su Lin-Chong LC Huang An-Fang AF

Journal of cellular and molecular medicine 20200717 18

Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disorder. MASP2 is a mediator that plays an important role in complement system. As dysregulation of the complement system has been demonstrated to correlate with SLE pathogenesis, the role of MASP2 in lupus has not been widely discussed. In the present study, serum levels of MASP2 were evaluated in 61 lupus patients and 98 healthy controls by training cohort, and then a validation cohort including 100 lupus, 100 rheumatoid ...[more]

PMID: 32677764

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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

Association of MASP2 levels and MASP2 gene polymorphisms with systemic lupus erythematosus.

Publications

Association of MASP2 levels and MASP2 gene polymorphisms with systemic lupus erythematosus.

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