title: Effect of MTHFR Gene Polymorphism Impact on Atherosclerosis via Genome-Wide Methylation.
abstract: BACKGROUND
  Atherosclerosis seriously threats human health. Homocysteine is an independent risk factor closely related to DNA methylation. MTHFR C667T loci polymorphism is closely associated with homocysteine level. This study aimed to investigate the relationship among MTHFR C667T loci polymorphism, genome-wide methylation, and atherosclerosis.
  
  
  METHODS
  Blood sample was collected from 105 patients with coronary atherosclerosis and 105 healthy controls. Pyrosequencing methylation was used to detect LINE-1 methylation level. Polymerase chain reaction-restriction enzyme fragment length polymorphism (PCR-RFLP) was used to test MTHFR.
  
  
  RESULTS
  LINE-1 methylation level in the patient group was significantly lower than in the controls (t=5.007, P<0.001). MTHFR C667T genotype distribution presented marked differences in the 2 groups. TT genotype carriers had significantly increased risk of atherosclerosis (OR=3.56, P=0.009). Three different genotypes of MTHFR C667T loci showed different LINE-1 methylation level between the 2 groups (P<0.01). LINE-1 methylation level in TT and CT genotype carriers was obviously lower than in CC genotype carriers (P<0.05).
  
  
  CONCLUSIONS
  MTHFR C667T loci polymorphism may affect atherosclerosis by regulating genome methylation level.
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University; Key Laboratory of Molecular Cardiology, Shanxi Province; Institute of Cardiovascular Channelopathy; Key Laboratory of Environment & Genes Related to Diseases (Xi'an Jiaotong University), Ministry, Xi'an, Shaanxi, China (mainland).
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Lin
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University; Key Laboratory of Molecular Cardiology, Shanxi Province; Institute of Cardiovascular Channelopathy; Key Laboratory of Environment & Genes Related to Diseases (Xi'an Jiaotong University), Ministry, Xi'an, Shaanxi, China (mainland).
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University; Key Laboratory of Molecular Cardiology, Shanxi Province; Institute of Cardiovascular Channelopathy; Key Laboratory of Environment & Genes Related to Diseases (Xi'an Jiaotong University), Ministry, Xi'an, Shaanxi, China (mainland).
authors.forename: Qun
authors.initials: Q
authors.lastname: Lu
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University; Key Laboratory of Molecular Cardiology, Shanxi Province; Institute of Cardiovascular Channelopathy; Key Laboratory of Environment & Genes Related to Diseases (Xi'an Jiaotong University), Ministry, Xi'an, Shaanxi, China (mainland).
authors.forename: Xinjun
authors.initials: X
authors.lastname: Lei
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University; Key Laboratory of Molecular Cardiology, Shanxi Province; Institute of Cardiovascular Channelopathy; Key Laboratory of Environment & Genes Related to Diseases (Xi'an Jiaotong University), Ministry, Xi'an, Shaanxi, China (mainland).
authors.forename: Tingzhong
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Baotou Medical College, Baotou, Inner Mongolia, China (mainland).
authors.forename: Xuanmao
authors.initials: X
authors.lastname: Han
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University; Key Laboratory of Molecular Cardiology, Shanxi Province; Institute of Cardiovascular Channelopathy; Key Laboratory of Environment & Genes Related to Diseases (Xi'an Jiaotong University), Ministry, Xi'an, Shaanxi, China (mainland).
authors.forename: Aiqun
authors.initials: A
authors.lastname: Ma
mesh_terms: D050197:Atherosclerosis / Q000201:enzymology* / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D020084:Long Interspersed Nucleotide Elements / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
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