title: Genetic Polymorphism (rs329498) in the Pellino-1 Gene as Possible Predisposal Factor for Systemic Lupus Erythematosus in a Chinese Population.
abstract: OBJECTIVE
  The purpose of this study was to analyze the association of two single nucleotide polymorphisms (SNPs) in Peli-1 gene with systemic lupus erythematosus (SLE) in a Chinese population.
  
  
  METHODS
  We conducted a case-control study and a total of 738 SLE patients and 827 healthy controls were finally recruited. Peli-1 rs329498 and rs10496105 polymorphisms were specified from genomic DNA using TaqMan genotyping assay on Fluidigm 192.24 system.
  
  
  RESULTS
  Allele contrast showed the minor allele C was associated with decreased risk for SLE when compared with the A allele (OR = 0.851, 95% CI = 0.737-0.983, p = 0.028). Significant difference was observed in genotype distribution of rs329498 polymorphism between lupus nephritis (LN) patients and non-LN patients (χ(2) = 8.18, p = 0.017). Furthermore, we also found a decreased frequency of the minor allele C in LN patients (29.2%) than in non-LN patients (37.7%) (χ(2) = 8.67, p = 0.003). Moreover, a significant difference was also detected under a dominant model with regard to the distribution of genotype frequencies between LN patients and non-LN patients (CC + AC vs. AA: OR = 0.632, 95% CI = 0.451-0.884, p = 0.007). Clinical features analysis showed a significant difference in the distribution of genotypic frequencies between patients with malar rash and patients without this feature (χ(2) = 6.63, p = 0.036). Unfortunately, we failed to find any significant results between Peli-1 gene rs10496105 and SLE susceptibility.
  
  
  CONCLUSIONS
  Our observations suggested that Peli-1 gene polymorphism rs329498 might contribute to SLE susceptibility in Chinese Han Population. Likewise, the rs329498 SNP was also associated with the clinical features LN and malar rash in SLE patients.
authors.affiliation: a Department of Epidemiology and Biostatistics , School of Public Health, Anhui Medical University , Hefei , P.R. China.|b Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis , Anhui Medical University , Hefei , P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Ni
authors.affiliation: c Jiangxi Provincial Center for Disease Control and Prevention , Nanchang , P.R. China.
authors.forename: Jie
authors.initials: J
authors.lastname: Liu
authors.affiliation: a Department of Epidemiology and Biostatistics , School of Public Health, Anhui Medical University , Hefei , P.R. China.|b Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis , Anhui Medical University , Hefei , P.R. China.
authors.forename: Rui-Xue
authors.initials: RX
authors.lastname: Leng
authors.affiliation: a Department of Epidemiology and Biostatistics , School of Public Health, Anhui Medical University , Hefei , P.R. China.|b Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis , Anhui Medical University , Hefei , P.R. China.
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Pan
authors.affiliation: a Department of Epidemiology and Biostatistics , School of Public Health, Anhui Medical University , Hefei , P.R. China.
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C485959:PELI1 protein, human; D044767:Ubiquitin-Protein Ligases
keywords: Pellino 1; polymorphism; systemic lupus erythematosus