title: Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population.
abstract: BACKGROUND
  A frameshift mutation in the NPPA gene was identified in 1 family with atrial fibrillation (AF), however, further studies are needed to establish unequivocally the genetic association between NPPA and AF.
  
  
  METHODS
  A case control association study and mutational analysis of NPPA were performed with 384 sporadic AF patients and 844 controls from a Chinese GeneID population. Genotyping was performed using High-Resolution Melt analysis. Mutational analysis was performed using direct DNA sequencing analysis.
  
  
  RESULTS
  Significant allelic association was detected between single nucleotide polymorphism (SNP) rs5063 and lone AF (p=0.015, OR=1.63; adjusted p=0.003). Genotypic association was significant assuming an additive or dominant model (adjusted p=0.005 and 0.007, respectively). Six new variants were identified in NPPA, including 2 in the 5'-UTR, 2 in the 3'-UTR, and 2 missense substitutions. Variants c.413T>C, c.*48G>A and c.*133G>T were not present in 844 controls, and the others were identified in controls.
  
  
  CONCLUSIONS
  Variants in NPPA confer risk of lone AF in a Chinese population. Thus, in addition to being a disease-causing gene with mutations identified in familial AF cases, NPPA is a susceptibility gene for lone AF.
authors.affiliation: Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, PR China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Ren
authors.forename: Chengqi
authors.initials: C
authors.lastname: Xu
authors.forename: Chengxiong
authors.initials: C
authors.lastname: Zhan
authors.forename: Yanzong
authors.initials: Y
authors.lastname: Yang
authors.forename: Lisong
authors.initials: L
authors.lastname: Shi
authors.forename: Fan
authors.initials: F
authors.lastname: Wang
authors.forename: Chuchu
authors.initials: C
authors.lastname: Wang
authors.forename: Yunlong
authors.initials: Y
authors.lastname: Xia
authors.forename: Bo
authors.initials: B
authors.lastname: Yang
authors.forename: Gang
authors.initials: G
authors.lastname: Wu
authors.forename: Pengyun
authors.initials: P
authors.lastname: Wang
authors.forename: Xiuchun
authors.initials: X
authors.lastname: Li
authors.forename: Dan
authors.initials: D
authors.lastname: Wang
authors.forename: Xin
authors.initials: X
authors.lastname: Xiong
authors.forename: Jinqiu
authors.initials: J
authors.lastname: Liu
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Mugen
authors.initials: M
authors.lastname: Liu
authors.forename: Jingyu
authors.initials: J
authors.lastname: Liu
authors.forename: Xin
authors.initials: X
authors.lastname: Tu
authors.forename: Qing Kenneth
authors.initials: QK
authors.lastname: Wang
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001281:Atrial Fibrillation / Q000175:diagnosis / Q000235:genetics*; D009320:Atrial Natriuretic Factor / Q000235:genetics*; D002681:China; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C472955:NPPA protein, human; D009320:Atrial Natriuretic Factor