title: MEF2A gene mutations and susceptibility to coronary artery disease in the Chinese population.
abstract: We investigated mutations and polymorphisms of the coronary artery disease (CAD)-related myocyte enhancer factor 2A (MEF2A) gene in a Chinese population. Polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing were used to detect exon 11 of the MEF2A gene in 210 Hubei patients with CAD and 190 healthy controls. The following mutations were identified: a) a synonymous heterozygous mutation (147191G→T) combined with a 6-base deletion (147123-147128); b) a synonymous heterozygous or homozygous mutation (147191G→T) combined with a 9-base deletion (147123-147131); c) a synonymous mutation (147143G→A); d) a synonymous mutation (147191G→T) combined with an 18-base deletion (147111-147128); and e) a 21-base deletion (147108-147128). Mutations (a) and (b) and a 3-base deletion (147126-147128) with or without the synonymous heterozygous mutation (147191G→T) occurred in more than 1% of controls. However, mutations (c), (d), and (e) were not observed in the control group. The polymorphism in exon 11 of the MEF2A gene was observed in the Chinese population. Six or seven amino acid deletions and synonymous mutations (147143G→A) may be correlated with susceptibility to CAD.
authors.affiliation: Department of Cardiology, Tianyou Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, China jinglicn@126.com.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Medicine, Wuhan Polytechnic University, Wuhan, China.
authors.forename: H-X
authors.initials: HX
authors.lastname: Chen
authors.affiliation: Institute of Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: J-G
authors.initials: JG
authors.lastname: Yang
authors.affiliation: Institute of Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: W
authors.initials: W
authors.lastname: Li
authors.affiliation: Institute of Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: R
authors.initials: R
authors.lastname: Du
authors.affiliation: Institute of Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: L
authors.initials: L
authors.lastname: Tian
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China; D003324:Coronary Artery Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D064326:MEF2 Transcription Factors / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D064326:MEF2 Transcription Factors