Do mutations causing low HDL-C promote increased carotid intima-media thickness?

Miller, Michael; Rhyne, Jeffrey; Hong, Seung Ho; Friel, Gina; Dolinar, Christina; Riley, Ward A.

doi:10.1016/j.cca.2006.10.001

Cited by 10 publications

(5 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…30 The third study examined a limited number of American hypoalphalipoproteinemia patients, some of whom carry mutations in the LCAT gene; mean carotid IMT values were not different between hypoalphalipoproteinemia cases and controls. 31 These previous findings are clearly at variance with those found in the present study. The explanation for this discrepancy is not readily apparent, although it may be related to a distinctly lower prevalence of cardiovascular risk factors other than low HDL-C in the Italian LCAT-deficient families.…”

Section: Discussionsupporting

confidence: 68%

Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans

et al. 2009

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 68%

Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans

et al. 2009

View full text Add to dashboard Cite

“…In the present case, the haploinsufficiency was the likely result of the combination of a negative effect of the expressed mutant isoform resulting from protein termination (splice defect at exon 31) and post-translational instability as a byproduct of a poorly or non-functioning protein (splice defect at exon 7) based upon the predicted removal of 59 amino acids within the extracellular loop. In contrast to affected family members with premature CHD, the proband is clinically healthy despite low HDL-C, raising the possibility that in the absence of other CHD risk factors, isolated low HDL-C may not pose a substantially increased risk of vascular disease [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Multiple splice defects in ABCA1cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

et al. 2009

Self Cite

View full text Add to dashboard Cite

Background: Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional ABCA1 mutations reported to date, splice variants have been reported infrequently. We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L]) and a family history of premature coronary heart disease (CHD) using polymerase chain reaction single-strand conformation polymorphism (SSCP) analysis.

show abstract

“…atheroprotection or not. A life-long exposure to 30-60% reductions of HDL-C levels as a consequence of mutations in ABCA1 , APOAI , or LCAT has been reported to be associated with increased cIMT and CVD risk in several family studies (49,(158)(159)(160)(161)(162) but other investigators have not found this (163,164). The APOA1 Milano defect, leading to very low levels of HDL-C, has been associated with a normal cIMT in carriers (165).…”

Section: Cetpmentioning

confidence: 99%

The HDL hypothesis: does high-density lipoprotein protect from atherosclerosis?

Vergeer

Holleboom

Kastelein

et al. 2010

Journal of Lipid Research

201

122

View full text Add to dashboard Cite

This article is available online at http://www.jlr.org the imagination. Because of a general consensus that HDL protects against atherosclerosis, what we shall term the HDL hypothesis, strategies have been developed to raise plasma HDL levels or to improve HDL function. However, it is increasingly questioned whether such interventions will indeed reduce the risk of atherosclerosis. This review summarizes the reported evidence that supports the HDL hypothesis. EPIDEMIOLOGYA low plasma HDL-C concentration is among the strongest, statistically independent risk factors for cardiovascular disease (CVD) (2). In a widely cited meta-analysis of four large studies (total number of individuals studied: 15,252), a 1 mg/dl increase of HDL-C levels was reported to be associated with a 2-3% decreased CVD risk (3). This result provides an epidemiological argument in favor of therapeutically raising HDL-C levels. One may draw parallels with the detrimental consequences of elevated lowdensity lipoprotein cholesterol (LDL-C) levels and blood pressure, which have been successfully controlled through therapy, resulting in signifi cant reductions of cardiovascular mortality and morbidity (4, 5) . It should be noted, however, that the associations between elevated LDL-C and blood pressure and increased CVD risk refl ect causal relationships, whereas such a relation between low HDL-C levels and increased CVD is not undisputed (6, 7). This is related to the fact that HDL-C levels are infl uenced by many different variables that also affect CVD risk: 1 ) Men have on average lower HDL-C levels than women (8). (1) reported that plasma levels of high-density lipoprotein cholesterol (HDL-C) were reduced in patients with coronary artery disease. In 1977, Gordon et al. (2) subsequently showed that low HDL-C is a risk factor for coronary heart disease in the Framingham study. These important fi ndings have given rise to a large number of diverse HDL studies over the last few decades. The numerous different and apparently unrelated beneficial effects that have since been ascribed to HDL appeal to

show abstract

Do mutations causing low HDL-C promote increased carotid intima-media thickness?

Abstract: Background-Although observational data support an inverse relationship between high-density lipoprotein (HDL) cholesterol and coronary heart disease (CHD), genetic HDL deficiency states often do not correlate with premature CHD.

Cited by 10 publications

References 28 publications

Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans

Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans

Multiple splice defects in ABCA1cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

The HDL hypothesis: does high-density lipoprotein protect from atherosclerosis?

Contact Info

Product

Resources

About