title: The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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 < 0.05). sCD40 levels were increased in patients with SLE compared with controls (P < 0.01). Moreover, genotypes carrying the CD40 rs1883832 C/T variant allele were associated with increased CD40 levels compared to the homozygous wild-type genotype in patients with SLE. The rs1883832C/T polymorphism of CD40 and its sCD40 levels were associated with SLE in the Chinese population.
  
  
  CONCLUSIONS
  Our results suggest that CD40 gene may play a role in the development of SLE in the Chinese population.
authors.affiliation: Department of Laboratory Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. 18777615132@163.com.
authors.forename: Jian-Ming
authors.initials: JM
authors.lastname: Chen
authors.affiliation: Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. gjnsdy-1987@163.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Guo
authors.affiliation: Department of Laboratory Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. 1691205864@qq.com.
authors.forename: Chuan-Dong
authors.initials: CD
authors.lastname: Wei
authors.affiliation: Department of Laboratory Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. 1918436346@qq.com.
authors.forename: Chun-Fang
authors.initials: CF
authors.lastname: Wang
authors.affiliation: Department of Laboratory Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. 2438872699@qq.com.
authors.forename: Hong-Cheng
authors.initials: HC
authors.lastname: Luo
authors.affiliation: Department of Laboratory Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. wysh22@163.com.
authors.forename: Ye-Sheng
authors.initials: YS
authors.lastname: Wei
authors.affiliation: Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, 533000, Guangxi, China. yylanyan@163.com.
authors.forename: Yan
authors.initials: Y
authors.lastname: Lan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019013:CD40 Antigens / Q000097:blood* / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: D019013:CD40 Antigens