Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene: lack of association with lipoprotein profiles.
Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene: lack of association with lipoprotein profiles.
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微粒体甘油三酯转移蛋白（MTP）基因启动子中两个多态性的鉴定：与脂蛋白谱缺乏关联。
DOI：
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发表时间：
1998
影响因子：
6.5
通讯作者：
F. Cambien
中科院分区：
文献类型：
--
作者：
S. Herrmann;O. Poirier;V. Nicaud;A. Evans;J. Ruidavets;G. Luc;D. Arveiler;C. Bao;F. Cambien
微粒体甘油三酯转移蛋白（MTP）催化甘油三酯、胆固醇酯和磷脂酰胆碱在磷脂表面之间的转移。97-kD亚基赋予脂质转移活性，因此在含载脂蛋白B（apo B）脂蛋白的组装中起作用。我们检测了MTP基因大亚基启动子区的多态性是否与不同的血脂变量、动脉粥样硬化和心肌梗死（MI）风险相关。我们用PCR-SSCP方法在MTP基因启动子区838 bp处进行了筛选，并在-400（MTP/-400（A-->t））和-164（MTP/-164（T-->c））位置鉴定出两个多态性，后者位于推定的固醇反应元件（SRE）共有序列上。在ECTIM研究中，对622名男性MI患者和728名年龄匹配的对照者进行了研究，发现这两种多态性几乎完全连锁不平衡（|D'|=+0.98，频率较低的等位基因优先相关，P < 0.001）。MI患者和对照组之间的基因型或等位基因频率无显著差异。此外，在ECTIM研究的对照组中测量的两个启动子多态性和几个脂质变量或在MI患者中进行血管造影评估的冠状动脉狭窄之间没有显著相关性。我们的结论是，这些MTP多态性与血脂变量或冠心病在这项研究中。微粒体甘油三酯转移蛋白（MTP）基因启动子的两种多态性的鉴定：与脂蛋白谱缺乏关联
The microsomal triglyceride transfer protein (MTP) catalyzes the transfer of triglyceride, cholesteryl ester, and phosphatidylcholine between phospholipid surfaces. The 97-kD subunit imparts lipid transfer activity and thus plays a role in the assembly of apolipoprotein B (apoB)-containing lipoproteins. We tested whether polymorphisms in the promoter region of the large subunit of the MTP gene might be related to different plasma lipid variables, atherosclerosis, and the risk of myocardial infarction (MI). We screened 838 bp in the promoter region of the MTP gene by PCR-SSCP and identified two polymorphisms at positions -400 (MTP/-400 (A-->t)) and -164 (MTP/-164 (T-->c)), the latter being situated on a putative sterol responsive element (SRE) consensus sequence. The two polymorphisms, investigated in 622 male patients with MI and in 728 age-matched controls participating in the ECTIM Study, were in nearly complete linkage disequilibrium (|D'| = +0.98, less frequent alleles being preferentially associated, P < 0.001). There were no significant differences in genotype or allele frequencies between patients with MI and controls. Moreover, no significant associations between the two promoter polymorphisms and several lipid variables measured in the control groups of the ECTIM Study or coronary artery stenosis, angiographically assessed in patients with MI, were detected. We conclude that these MTP polymorphisms are unrelated to lipid variables or coronary heart disease in this study. Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene: lack of association with lipoprotein profiles.
DOI：
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发表时间：
1993-07
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
M. Briggs;C. Yokoyama;Xiaodong Wang;Michael S. Brown;J. Goldstein
通讯作者：
M. Briggs;C. Yokoyama;Xiaodong Wang;Michael S. Brown;J. Goldstein