Abstract:
OBJECTIVES:To determine whether mutations in APOA1 affect levels of high-density lipoprotein (HDL) cholesterol and to predict risk of ischaemic heart disease (IHD) and total mortality in the general population. BACKGROUND:Epidemiologically, risk of IHD is inversely related to HDL cholesterol levels. Mutations in apolipoprotein (apo) A-I, the major protein constituent of HDL, might be associated with low HDL cholesterol and predispose to IHD and early death. DESIGN:We resequenced APOA1 in 190 individuals and examined the effect of mutations on HDL cholesterol, risk of IHD, myocardial infarction (MI) and mortality in 10 440 individuals in the prospective Copenhagen City Heart Study followed for 31 years. Results were validated in an independent case-control study (n = 16 035). Additionally, we determined plasma ratios of mutant to wildtype (WT) apoA-I in human heterozygotes and functional effects of mutations in adenovirus-transfected mice. RESULTS:We identified a new mutation, A164S (1 : 500 in the general population), which predicted hazard ratios for IHD, MI and total mortality of 3.2 [95% confidence interval (CI): 1.6-6.5], 5.5 (95% CI: 2.6-11.7) and 2.5 (95% CI: 1.3-4.8), respectively, in heterozygotes compared with noncarriers. Mean reduction in survival time in heterozygotes was 10 years (P < 0.0001). Results for IHD and MI were confirmed in the case-control study. Furthermore, the ratio of mutant S164 to WT A164 apoA-I in plasma of heterozygotes was reduced. In addition, A164S heterozygotes had normal plasma lipid and lipoprotein levels, including HDL cholesterol and apoA-I, and this finding was confirmed in adenovirus-transfected mice. CONCLUSIONS:A164S is the first mutation in APOA1 to be described that predicts an increased risk of IHD, MI and total mortality without low HDL cholesterol levels.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Haase CL,Frikke-Schmidt R,Nordestgaard BG,Kateifides AK,Kardassis D,Nielsen LB,Andersen CB,Køber L,Johnsen AH,Grande P,Zannis VI,Tybjaerg-Hansen Adoi
10.1111/j.1365-2796.2011.02381.xsubject
Has Abstractpub_date
2011-08-01 00:00:00pages
136-46issue
2eissn
0954-6820issn
1365-2796journal_volume
270pub_type
杂志文章abstract::Two cases of young healthy males presenting with cardiac tamponade and developing clinical adrenal insufficiency within a few weeks are described. On presentation they had a brisk inflammatory response with complement activation. Both had signs of subclinical hepatitis, and both have later shown evidence of thyroid in...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1997.tb00012.x
更新日期:1997-06-01 00:00:00
abstract::Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder that affects approximately 10% of the population. Diet triggers symptoms in the vast majority of individuals with IBS. In view of this, there has been a focus on the role of diet in IBS. The diets currently being headlined for IBS include ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
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journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.0954-6820.2003.01248.x
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:Atherosclerosis is characterized by accumulation of lipids, cells and extracellular matrix (ECM) proteins in the arterial wall. Collagen type I (COL1), a component of the arterial ECM, is cleaved by matrix metalloproteinases (MMPs) and known to be remodelled in atherosclerosis. We explored whether the MMP-med...
journal_title:Journal of internal medicine
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb01101.x
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVES:To analyse and evaluate current practice of asthma therapy by use of computerized prescription data. DESIGN:Descriptive, non-interventive. SETTING:A pharmacoepidemiological database on computerized refund claims from pharmacies in the Odense region in Denmark. SUBJECTS:Persons aged 20-44, presenting presc...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00706.x
更新日期:1993-07-01 00:00:00
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doi:10.1046/j.1365-2796.2001.00830.x
更新日期:2001-05-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1996.322856000.x
更新日期:1996-11-01 00:00:00
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pub_type: 杂志文章
doi:10.1046/j.1365-2796.2003.01127.x
更新日期:2003-04-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2001-08-01 00:00:00
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更新日期:2021-02-01 00:00:00
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更新日期:2005-09-01 00:00:00
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更新日期:2011-11-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00727.x
更新日期:1993-08-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.1992.tb01256.x
更新日期:1992-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1365-2796.2011.02431.x
更新日期:2011-10-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章
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更新日期:2003-09-01 00:00:00
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更新日期:2001-07-01 00:00:00
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更新日期:2009-01-01 00:00:00
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更新日期:1999-09-01 00:00:00
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更新日期:2003-05-01 00:00:00
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journal_title:Journal of internal medicine
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更新日期:1996-02-01 00:00:00
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journal_title:Journal of internal medicine
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更新日期:1995-12-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb00803.x
更新日期:1994-09-01 00:00:00
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更新日期:2010-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00484.x
更新日期:1991-12-01 00:00:00