Single-nucleotide polymorphisms influence the promoter activities of systemic lupus erythematosus-associated genes
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ORIGINAL RESEARCH PAPER
Single-nucleotide polymorphisms influence the promoter activities of systemic lupus erythematosus-associated genes Jinjun Qiu . Xiaoming Qin . Jinli Wen . Li Wu . Lei Kong . Yangxi Ou . Shucai Yang
Received: 20 December 2019 / Accepted: 17 May 2020 Ó Springer Nature B.V. 2020
Abstract Systemic lupus erythematosus (SLE) is a protypical autoimmune disease and genetic factors play important roles in its pathogenesis. Since present SLE susceptibility loci are mainly studied through metaanalysis of genome-wide association study, we performed promoter activity analysis to examine the biological functions of SLE-associated single-nucleotide polymorphisms (SNPs). We found at SNP positions rs1341239, rs1800795, rs1800796, rs1800872, rs1800871, rs187238, rs360719, rs8178822, rs3761549, Jinjun Qiu and Xiaoming Qin have contributed equally to the work.
different alleles influenced respective promoter activities in different manners, and the effects also appeared under glucocorticoid treatment. In addition, some SNPs showed strong correlations with levels of respective serum factors, but in most cases the associations were only demonstrated in SLE individuals. Our study has further disclose the functional roles of SLE-associate SNPs in SLE pathogenesis. Keywords Systemic lupus erythematosus Singlenucleotide polymorphisms Genome-wide association study
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10529-020-02916-y) contains supplementary material, which is available to authorized users. J. Qiu Department of General Practice, Pingshan District People’s Hospital, Shenzhen 518118, Guangdong, China
Y. Ou Department of Nephrology, Pingshan District People’s Hospital, Shenzhen 518118, Guangdong, China
X. Qin L. Wu L. Kong Department of Dermatology, Second Affiliated Hospital of Wannan Medical College, Wuhu 241000, Anhui, China
S. Yang (&) Department of Laboratory Medicine, Pingshan District People’s Hospital, Shenzhen 518118, Guangdong, China e-mail: [email protected]; [email protected]
J. Wen Clinical Medical Research Center, The Second Clinicaenen L Medical College of Jinan University (Shenzhen People’s Hospital), Shenzhen 518118, Guangdong, China
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Biotechnol Lett
Abbreviations SLE Systemic lupus erythematosus GWAS Genome-wide association study SNPs Single-nucleotide polymorphisms PBMCs Peripheral blood mononuclear cells MCSs Multiple cloning sites ELISA Enzyme linked immunosorbent assay DX Dexamethasone
Introduction Systemic lupus erythematosus (SLE) is a protypical autoimmune disease which is characterized by autoantibody production (Han et al. 2015), complement abnormalities (Leffler et al. 2014), immune complex deposition (Toong et al. 2011) and multi-organ damage (Lam and Petri 2005; Echeverri-Garcı´a et al. 2018). Although the pathogenesis of SLE in most cases still remains unclear, possibly due to the fact that its clinical presentation is usually murky and often complicated by
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