Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

Anne Tybjaerg-Hansen; Henrik Kjaerulf Jensen; Marianne Benn; Rolf Steffensen; Gorm Jensen; Børge G Nordestgaard

doi:10.1161/01.ATV.0000149380.94984.f0

Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

Anne Tybjaerg-Hansen, Henrik Kjaerulf Jensen, Marianne Benn, Rolf Steffensen, Gorm Jensen, Børge G Nordestgaard

31 Citations (Scopus)

Abstract

The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of background population and type of mutation (LDL receptor [LDLR] or APOB R3500Q) for cholesterol phenotype.

Original language	English
Journal	Arteriosclerosis, Thrombosis, and Vascular Biology
Volume	25
Issue number	1
Pages (from-to)	211-5
Number of pages	5
ISSN	1079-5642
DOIs	https://doi.org/10.1161/01.ATV.0000149380.94984.f0
Publication status	Published - 2005

Keywords

Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Apolipoproteins B
Arginine
Bias (Epidemiology)
Cholesterol
Female
Genetics, Population
Glutamine
Heterozygote Detection
Humans
Hyperlipoproteinemia Type II
Male
Middle Aged
Mutation
Myocardial Ischemia
Phenotype
Receptors, LDL

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10.1161/01.ATV.0000149380.94984.f0

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15528480&query_hl=22&itool=pubmed_docsum

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Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations. / Tybjaerg-Hansen, Anne; Jensen, Henrik Kjaerulf; Benn, Marianne et al.
In: Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 25, No. 1, 2005, p. 211-5.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Benn, Marianne

AU - Steffensen, Rolf

AU - Jensen, Gorm

AU - Nordestgaard, Børge G

PY - 2005

Y1 - 2005

N2 - The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of background population and type of mutation (LDL receptor [LDLR] or APOB R3500Q) for cholesterol phenotype.

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KW - Aged

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KW - Glutamine

KW - Heterozygote Detection

KW - Humans

KW - Hyperlipoproteinemia Type II

KW - Male

KW - Middle Aged

KW - Mutation

KW - Myocardial Ischemia

KW - Phenotype

KW - Receptors, LDL

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SP - 211

EP - 215

JO - Arteriosclerosis, Thrombosis, and Vascular Biology

JF - Arteriosclerosis, Thrombosis, and Vascular Biology

IS - 1

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Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

Abstract

Keywords

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