title: Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients.
abstract: Neutrophil extracellular traps (NETs) were closely associated with activation of type I interferon (IFN) pathway in systemic lupus erythematosus (SLE). We aimed to study the genetic basis of NETs-DEFA1A3 copy number variations (CNV) in SLE and HapMap CHB+JPT populations by quantitative real-time PCR and whole genome sequences data. DEFA1A3 CNs did not differ significantly between SLE patients and controls. DEFA1A3 CNs ranged from 3 to 11 in CHB and 4 to 16 in JPT. The median of DEFA1A3 CNV of CHB (6 copies) was significantly lower than that of JPT (9 copies). Associations of genotype of tag SNP rs2738113 with DEFA1A3 CNs and mRNA expression of IFNα were observed in CHB and JPT populations. Our data provided a genetic reference of DEFA1A3 CNV for further studies and suggested that the genetic pathogenesis of NETs, as well as DEFA1A3 in SLE should be further evaluated, specially in different populations.
authors: Renal Division, Department of Medicine, Peking University First Hospital, Peking University Institute of Nephrology, China.
authors: Fa-juan
authors: FJ
authors: Cheng
authors: Xu-jie
authors: XJ
authors: Zhou
authors: Yan-feng
authors: YF
authors: Zhao
authors: Ming-hui
authors: MH
authors: Zhao
authors: Hong
authors: H
authors: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D056915:DNA Copy Number Variations; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007564:Japan; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010456:Peptides, Cyclic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult; D023084:alpha-Defensins / Q000235:genetics*
chemical_list: C429483:DEFA1A3 protein, human; D010456:Peptides, Cyclic; D023084:alpha-Defensins