Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease.
Coronary artery disease (CAD) is based on the atherosclerosis of coronary artery and may manifest with myocardial infarction or angina pectoris. Although it is widely accepted that genetic factors are linked to CAD and several disease-related genes have been reported, only a few could be replicated suggesting that there might be some other CAD-related genes. To identify novel susceptibility loci for CAD, we used microsatellite markers in the screening and found six different candidate CAD loci. Subsequent single nucleotide polymorphism (SNP) association studies revealed an association between CAD and megakaryoblastic leukemia factor-1 gene (MKL1). The association with a promoter SNP of MKL1, -184C > T, was found in a Japanese population and the association was replicated in another Japanese population and a Korean population. Functional analysis of the MKL1 promoter SNP suggested that the higher MKL1 expression was associated with CAD. These findings suggest that MKL1 is involved in the pathogenesis of CAD.
Hinohara
Kunihiko
K
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan.
Nakajima
Toshiaki
T
Yasunami
Michio
M
Houda
Shigeru
S
Sasaoka
Taishi
T
Yamamoto
Ken
K
Lee
Bok-Soo
BS
Shibata
Hiroki
H
Tanaka-Takahashi
Yumiko
Y
Takahashi
Megumi
M
Arimura
Takuro
T
Sato
Akinori
A
Naruse
Taeko
T
Ban
Jimin
J
Inoko
Hidetoshi
H
Yamada
Yoshiji
Y
Sawabe
Motoji
M
Park
Jeong-Euy
JE
Izumi
Toru
T
Kimura
Akinori
A
D000328:Adult; D000368:Aged; D001402:B-Lymphocytes / Q000378:metabolism; D016022:Case-Control Studies; D002478:Cells, Cultured; D003324:Coronary Artery Disease / Q000235:genetics* / Q000473:pathology; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D004198:Disease Susceptibility; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007564:Japan; D007723:Korea; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors; D015534:Trans-Activators
D017931:DNA Primers; D004268:DNA-Binding Proteins; C431575:MRTFA protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D015534:Trans-Activators