scholarly journals SCUBE3 Is Likely a Susceptibility Gene for Systemic Lupus Erythematosus for Chinese Populations

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Yuan-yuan Qi ◽  
Ya-fei Zhao ◽  
Ya-ling Zhai ◽  
Xiao-xue Zhang ◽  
Xiao-yang Wang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Mrna Expression ◽  
Lupus Erythematosus ◽  
Susceptibility Gene ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Chinese Populations ◽  
Genetic Susceptibility Factor

Background. Systemic lupus erythematosus (SLE) is a complex autoimmune disease with strong genetic disposition with more than 100 susceptibility genes identified until now. However, our knowledge on SLE genetic background is still limited. The present study was aimed at evaluating the role of single nucleotide polymorphisms (SNPs) in SCUBE3, a TGF-β signaling activator, with SLE susceptibility in Chinese populations. Methods. A total of 2801 individuals (490 cases and 493 controls from GWAS cohort and 1003 cases and 815 controls from our cohort) were enrolled, and SNPs located 10 kb up- and downstream of SCUBE3 (chr6:35182190-35218609) were included in the genetic association study. Multiple layers of bioinformatics were conducted, and the levels of SCUBE3 expression were confirmed. Results. Of the 31 SNPs in SCUBE3 tested, 24 SNPs were significantly associated with SLE at p ≤ 0.05 . The top locus was rs1888822 with p = 8.74 ∗ 10 − 6 in the discovery cohort and was confirmed by the replication cohort with p = 0.012 . Additionally, the levels of SCUBE3 mRNA expression were significantly lower in patients with SLE comparing with healthy controls ( p = 4.28 ∗ 10 − 4 ). Further expression data from ArrayExpress showed that the expression of SCUBE3 was also lower in CD3+ T cells and B cells from patients with SLE. Conclusions. Our research revealed that variants in SCUBE3, which encode SCUBE3 as a TGF-β signaling activator, can be considered as a new genetic susceptibility factor for systemic lupus erythematosus. And the reduced mRNA expression of SCUBE3 was first reported in patients with SLE.

Association of PER2 gene single nucleotide polymorphisms with genetic susceptibility to systemic lupus erythematosus

Lupus ◽  
2021 ◽  
pp. 096120332198979
Author(s):  
Yi-Lin Dan ◽  
Chan-Na Zhao ◽  
Yan-Mei Mao ◽  
Qian Wu ◽  
Yi-Sheng He ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Susceptibility ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Period 2

The circadian clock plays a crucial role in the progress of systemic lupus erythematosus (SLE). In this study, we performed a case-control study to explore the association between Period 2 (PER2) gene single nucleotide polymorphisms (SNPs) and the susceptibility of systemic lupus erythematosus (SLE). A total of 492 SLE patients and 493 healthy controls were included. The improved multiple ligase detection reaction (iMLDR) was used for genotyping. The correlations between four SNPs of PER2 (rs10929273, rs11894491, rs36124720, rs934945) and the genetic susceptibility and clinical manifestations of SLE were analyzed. Significant differences were observed in the distributions of allele frequencies and genotype under dominant model in rs11894491 between SLE patients and controls ( p = 0.030, p = 022, respectively). We hypothesized that PER2 gene SNPs was related to the genetic susceptibility and clinical manifestations, implying the potential role of PER2 in the pathogenesis of SLE.

Evidence for Genetic Association and Interaction Between the TYK2 and IRF5 Genes in Systemic Lupus Erythematosus

2009 ◽  
Vol 36 (8) ◽  
pp. 1631-1638 ◽  
Author(s):  
ANNA HELLQUIST ◽  
TIINA M. JÄRVINEN ◽  
SARI KOSKENMIES ◽  
MARCO ZUCCHELLI ◽  
CHRISTINA ORSMARK-PIETRAS ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Genetic Interaction ◽  
The Other ◽  
Type I ◽  
Nucleotide Polymorphisms ◽  
Type I Ifn ◽  
Systemic Lupus ◽  
Single Nucleotide

Objective.Several candidate genes have been implicated in susceptibility for systemic lupus erythematosus (SLE), a complex autoimmune disease. The proposed genes include members of the type I interferon (IFN) pathway and genes involved in immunological defense functions. Our aim was to systematically replicate 6 such genes, TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2.Methods.Single-nucleotide polymorphisms in TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2 were genotyped in 277 SLE patients and 356 healthy controls from Finland, giving a power of 42%–70% for different genes at published allele frequencies.Results.Significant association was seen for rs2304256 (p = 0.0001) and rs12720270 (p = 0.0031) in TYK2 and rs10954213 (p = 0.0043) in IRF5 in our samples, but not for the other genes. We found evidence for genetic interaction (p = 0.014) between rs2304256 in TYK2 and rs10954213 in IRF5, both members of the type I IFN pathway, strengthening the role of the type I IFN pathway in the pathogenesis of SLE.Conclusion.The IFN pathway genes IRF5 and TYK2 may act epistatically in increasing risk for SLE, but our lack of replication does not exclude effects of the other genes studied.

A case of generalized pustular psoriasis caused by hydroxychloroquine in a patient with systemic lupus erythematosus

Lupus ◽  
2019 ◽  
Vol 28 (8) ◽  
pp. 1017-1020 ◽  
Author(s):  
E Shindo ◽  
K Shikano ◽  
M Kawazoe ◽  
T Yamamoto ◽  
N Kusunoki ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Neutrophil Infiltration ◽  
Pustular Psoriasis ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Potential Development ◽  
Generalized Pustular Psoriasis ◽  
The Face

Hydroxychloroquine (HCQ) has been used to treat systemic lupus erythematosus (SLE) in Japan since 2015. We herein report a case of SLE that developed generalized pustular psoriasis (GPP) following the administration of HCQ. Twenty-one days after the HCQ treatment, a pustular rash with itching appeared on the auricle, scalp, and forearm, and spread rapidly to the face and body trunk with a high fever and arthralgia. Skin biopsy showed pustule formation under the cornified layer, neutrophil infiltration, the destruction of keratinocytes, and spongiform pustules of Kogoj. The patient was diagnosed with GPP. HCQ was immediately discontinued, the dose of prednisolone (PSL) was increased, and granulocyte and monocyte adsorption apheresis was performed. Her symptoms subsequently disappeared. Since arthralgia relapsed after the tapering of PSL, cyclosporine was added. Although single nucleotide polymorphisms (c.28C>T and c.115+6T>C) in the interleukin (IL)-36RN gene, which encodes the IL-36 receptor antagonist, have frequently been reported in GPP, these mutations were not observed in the present case. The potential development of GPP needs to be considered when administering HCQ to patients with SLE.

Tumor necrosis factor-alpha single nucleotide polymorphisms in juvenile systemic lupus erythematosus

2015 ◽  
Vol 76 (8) ◽  
pp. 533-536 ◽  
Author(s):  
Fatemeh Tahghighi ◽  
Vahid Ziaee ◽  
Mohammad Hassan Moradinejad ◽  
Arezou Rezaei ◽  
Sara Harsini ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Tumor Necrosis ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Juvenile Systemic Lupus Erythematosus ◽  
Necrosis Factor Alpha ◽  
Single Nucleotide ◽  
Factor Alpha ◽  
Necrosis Factor

Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians

Lupus ◽  
2012 ◽  
Vol 21 (6) ◽  
pp. 625-631 ◽  
Author(s):  
P Sandrin-Garcia ◽  
LAC Brandão ◽  
RL Guimarães ◽  
JAT Pancoto ◽  
EA Donadi ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphisms ◽  
Lupus Erythematosus ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Single Nucleotide
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