title: The association of interleukin-21 polymorphisms with interleukin-21 serum levels and risk of systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is one of the common autoimmune diseases, with complex genetic components. Interleukin-21 (IL-21) is the most recently discovered member of the type-I cytokine family, which has a variety of effects on the immune system, including B cell activation, plasma cell differentiation, and immunoglobulin production. Previous studies have identified that IL-21 was associated with different autoimmune and inflammatory diseases, such as rheumatoid arthritis, multiple sclerosis and SLE. Variations in the DNA sequence in the IL-21 gene may lead to altered IL-21 production and/or activity, and thus this can modulate an individual's susceptibility to SLE. To test this hypothesis, we investigated the association of the IL-21 polymorphisms and its serum levels with the risk of SLE in a Chinese population. We analyzed three single nucleotide polymorphisms of IL-21 gene rs907715 C/T, rs2221903 T/C and rs2055979 C/A in 175 patients with SLE and 190 age- and sex-matched controls, using Snapshot SNP genotyping assays and DNA sequencing method. Soluble IL-21 (sIL-21) levels were measured by ELISA. There were significant differences in the genotype and allele frequencies of IL-21 gene rs2055979 C/A polymorphism between the group of patients with SLE and the control group (P<0.05). sIL-21 levels were increased in patients with SLE compared with controls (P<0.01). Moreover, genotypes carrying the IL-21 rs2055979 A variant allele were associated with increased IL-21 levels compared to the homozygous wild-type genotype in patients with SLE. The rs2055979 C/A polymorphism of IL-21 and its sIL-21 levels were associated with SLE in the Chinese population. Our data suggests that IL-21 gene may play a role in the development of SLE.
authors.affiliation: Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Lan
authors.affiliation: Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Luo
authors.affiliation: Department of Laboratory Medicine, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China.
authors.forename: Jun-Li
authors.initials: JL
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China.
authors.forename: Yuan-Wen
authors.initials: YW
authors.lastname: Jiang
authors.affiliation: Institute of Medical Laboratory, Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China. Electronic address: wysh22@gmail.com.
authors.forename: Ye-Sheng
authors.initials: YS
authors.lastname: Wei
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007378:Interleukins / Q000097:blood / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000098546:Interleukin-21
chemical_list: D007378:Interleukins; D000098546:Interleukin-21
keywords: Gene; IL-21; Polymorphism; SLE