title: -94 ATTG insertion/deletion polymorphism of the NFKB1 gene is associated with coronary artery disease in Han and Uygur women in China.
abstract: OBJECTIVE
  The nuclear factor kappa-light-chain enhancer of activated B cells (NF-κB) signaling pathway plays a key role in the regulatory network of inflammation. The deletion variant allele of the NFKB1-94 insertion/deletion (ins/del) ATTG promoter polymorphism results in lower transcription levels of the p50 subunit, and the variant allele has been associated with several inflammatory diseases as well as with coronary artery disease (CAD) with inflammation playing an important part in the pathogenesis. The aim of the present study was to assess the association between the human NFKB1 gene polymorphism and CAD in a Han and Uygur population of China.
  
  
  METHODS
  We used the following two independent case-control studies: a Han population (633 CAD patients and 616 control subjects) and a Uygur population (437 CAD patients and 356 control subjects). All participants were genotyped for the same one single nucleotide polymorphism (SNP) (rs28362491) of the NFKB1 gene, that is, DD, ATTG deleted homozygote; ID, ATTG inserted and deleted heterozygote and II, ATTG inserted homozygote by real-time polymerase chain reaction.
  
  
  RESULTS
  The distribution of the SNP (rs28362491) genotypes was significantly different between CAD and control participants in women of the Han (p=0.029) and the Uygur (p=0.032) populations, but not in men. Further, DD carriers of the SNP in the NFKB1 gene were more frequent in female CAD patients than in controls in both the Han (23.2% vs. 13.5%, p=0.009) and the Uygur (19.8% vs. 8.3%, p=0.012) population. The significant difference between DD and ID+II genotypes was retained after adjustment for covariates (for Han, odds ratio [OR]: 1.805, p=0.029 and for Uygur, OR: 3.192, p=0.011).
  
  
  CONCLUSIONS
  The DD genotype of the SNP (rs28362491) in the NFKB1 gene may be considered a genetic marker of CAD in Han and Uygur women in China.
authors.affiliation: 1 Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Yang
authors.forename: Jin-Yu
authors.initials: JY
authors.lastname: Zhang
authors.forename: Yi-Tong
authors.initials: YT
authors.lastname: Ma
authors.forename: Xiang
authors.initials: X
authors.lastname: Xie
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Li
authors.forename: Fen
authors.initials: F
authors.lastname: Liu
authors.forename: Bang-Dang
authors.initials: BD
authors.lastname: Chen
authors.forename: Xing-Hui
authors.initials: XH
authors.lastname: Dong
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Zheng
authors.forename: Shuo
authors.initials: S
authors.lastname: Pan
authors.forename: Hui
authors.initials: H
authors.lastname: Zhai
authors.forename: Dong-Ze
authors.initials: DZ
authors.lastname: Li
authors.forename: Qing-Jie
authors.initials: QJ
authors.lastname: Chen
mesh_terms: D002681:China; D003324:Coronary Artery Disease / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers; D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human