title: Single-nucleotide polymorphism and haplotypes of TNIP1 associated with systemic lupus erythematosus in a Chinese Han population.
abstract: OBJECTIVE
  To determine the association of systemic lupus erythematosus (SLE) with single-nucleotide polymorphisms (SNP) in the TNIP1 gene and compare the expression of this gene in cases and controls from a Chinese Han population in this replication study.
  
  
  METHODS
  Matrix-assisted laser desorption ionization time-of-flight mass spectrometry was used to genotype 19 SNP in TNIP1 in Chinese Han patients with SLE (n = 341) and controls (n = 356). Genotypes were analyzed by codominant, dominant, and recessive models. Analysis of allele frequencies and linkage disequilibrium was also performed. Western blotting and qRT-PCR were used to measure the expression of these genes in peripheral blood mononuclear cells of SLE cases and controls.
  
  
  RESULTS
  Seven SNP loci were significantly associated with SLE in our population (p < 0.05 for all comparisons). Two TNIP1 gene haplotypes (ATTGCGC and GTCCTAT) were associated with SLE (p = 0.0246 and p = 0.0024, respectively). Western blotting and qRT-PCR results provide evidence that patients with SLE had significantly reduced expression of TNIP1/ABIN-1 relative to controls.
  
  
  CONCLUSIONS
  Analysis of SNP in the TNIP1 gene and expression of this gene in peripheral blood lymphocytes indicated these SNP were associated with the occurrence of SLE in Han Chinese patients. Future studies should examine the roles of these SNP in the pathogenesis of SLE.
authors.affiliation: Department of Dermatology and the Department of Endocrinology and Metabolism, Southwest Hospital, Third Military Medical University, Chongqing, China.
authors.forename: Dong-Mei
authors.initials: DM
authors.lastname: Zhang
authors.forename: Li-Qing
authors.initials: LQ
authors.lastname: Cheng
authors.forename: Zhi-Fang
authors.initials: ZF
authors.lastname: Zhai
authors.forename: Lin
authors.initials: L
authors.lastname: Feng
authors.forename: Bai-Yu
authors.initials: BY
authors.lastname: Zhong
authors.forename: Yi
authors.initials: Y
authors.lastname: You
authors.forename: Na
authors.initials: N
authors.lastname: Zhang
authors.forename: Zhi-Qiang
authors.initials: ZQ
authors.lastname: Song
authors.forename: Xi-Chuan
authors.initials: XC
authors.lastname: Yang
authors.forename: Fang-Ru
authors.initials: FR
authors.lastname: Chen
authors.forename: Fei
authors.initials: F
authors.lastname: Hao
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D004268:DNA-Binding Proteins; C117046:TNIP1 protein, human
keywords: SINGLE-NUCLEOTIDE POLYMORPHISMS; SYSTEMIC LUPUS ERYTHEMATOSUS; TNIP1