title: Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis.
abstract: OBJECTIVE
  To evaluate the association between the single nucleotide polymorphism rs189037 of the ataxia-telangiectasia mutated (ATM) gene and angiographically characterized coronary stenosis as well as the molecular basis of this association.
  
  
  RESULTS
  In 562 patients treated at the Department of Cardiology, West China Hospital, a significant association was found between polymorphism rs189037 and angiographically characterized coronary stenosis. For the T versus C allele, the adjusted OR was 0.79 (95%CI 0.67-0.92, P=0.003), using the allele frequency model; for TT versus CT/CC, the adjusted OR was 0.36 (95%CI 0.21-0.59, P=0.00006), using the recessive model; and for TT/CT versus CC, the adjusted OR was 0.54 (95%CI 0.29-1.02, P=0.06), using the dominant model. An antagonism was found between polymorphism rs189037 and diabetes mellitus (P=0.003). In coronary artery disease (CAD) patients, the TT genotype of rs189037 was associated with higher ATM mRNA expression (F=4.23, P=0.02) in peripheral mononuclear cells than the CC or CT genotypes.
  
  
  CONCLUSIONS
  Polymorphism rs189037 may influence the expression of ATM mRNA in CAD patients. It is also associated with the degree of coronary stenosis. Moderately low expression of the ATM gene may be associated with the development of coronary atherosclerosis.
authors.affiliation: Department of Cardiology, Laboratory of Stem Cell Biology, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu 610041, China.
authors.forename: Sheyu
authors.initials: S
authors.lastname: Li
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Tie
authors.initials: T
authors.lastname: Chen
authors.forename: Baochun
authors.initials: B
authors.lastname: Tian
authors.forename: Xiangbing
authors.initials: X
authors.lastname: Deng
authors.forename: Zhuoxian
authors.initials: Z
authors.lastname: Zhao
authors.forename: Ping
authors.initials: P
authors.lastname: Yuan
authors.forename: Birong
authors.initials: B
authors.lastname: Dong
authors.forename: Yonggang
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xianming
authors.initials: X
authors.lastname: Mo
mesh_terms: D000368:Aged; D000704:Analysis of Variance; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D016009:Chi-Square Distribution; D002681:China; D017023:Coronary Angiography; D023921:Coronary Stenosis / Q000000981:diagnostic imaging* / Q000201:enzymology / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases