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Defining the spectrum of alleles that contribute to blood lipid concentrations in humans

Kathiresan, Sekar; Musunuru, Kiran and Orho-Melander, Marju LU (2008) In Current Opinion in Lipidology 19(2). p.122-127
Abstract
Purpose of review Recently, genome-wide genetic screening of common DNA sequence variants has proven a successful approach to identify novel genetic contributors to complex traits. This review summarizes recent genome-wide association studies for lipid phenotypes, and evaluates the next steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings to inform clinical practice. Recent findings So far, genome-wide association studies have defined at least 19 genomic regions that contain common DNA single nucleotide polymorphisms associated with LDL cholesterol, HDL cholesterol and/or triglycerides. Of these, eight represent novel loci in humans, whereas 11 genes have been previously implicated in lipoprotein... (More)
Purpose of review Recently, genome-wide genetic screening of common DNA sequence variants has proven a successful approach to identify novel genetic contributors to complex traits. This review summarizes recent genome-wide association studies for lipid phenotypes, and evaluates the next steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings to inform clinical practice. Recent findings So far, genome-wide association studies have defined at least 19 genomic regions that contain common DNA single nucleotide polymorphisms associated with LDL cholesterol, HDL cholesterol and/or triglycerides. Of these, eight represent novel loci in humans, whereas 11 genes have been previously implicated in lipoprotein metabolism. Many of the same loci with common variants have already been shown to lead to monogenic lipid disorders in humans and/or mice, suggesting that a spectrum of common and rare alleles at each validated locus contributes to blood lipid concentrations. Summary At least 19 loci harbor common variations that contribute to blood lipid concentrations in humans. Larger scale genome-wide association studies should identify additional loci, and sequencing of these loci should pinpoint all relevant alleles. With a full catalog of DNA polymorphisms in hand, a panel of lipid-related variants can be studied to provide clinical risk stratification and targeting of therapeutic interventions. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cholesterol, LDL, HDL cholesterol, complex trait genetics, genome-wide association, single nucleotide polymorphism, triglycerides
in
Current Opinion in Lipidology
volume
19
issue
2
pages
122 - 127
publisher
Lippincott Williams & Wilkins
external identifiers
  • wos:000254469100004
  • scopus:41649089532
ISSN
1473-6535
language
English
LU publication?
yes
id
98bae59d-d23f-413e-80b4-b1d7a16630ac (old id 1182994)
date added to LUP
2008-09-02 10:22:00
date last changed
2017-01-01 04:59:59
@article{98bae59d-d23f-413e-80b4-b1d7a16630ac,
  abstract     = {Purpose of review Recently, genome-wide genetic screening of common DNA sequence variants has proven a successful approach to identify novel genetic contributors to complex traits. This review summarizes recent genome-wide association studies for lipid phenotypes, and evaluates the next steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings to inform clinical practice. Recent findings So far, genome-wide association studies have defined at least 19 genomic regions that contain common DNA single nucleotide polymorphisms associated with LDL cholesterol, HDL cholesterol and/or triglycerides. Of these, eight represent novel loci in humans, whereas 11 genes have been previously implicated in lipoprotein metabolism. Many of the same loci with common variants have already been shown to lead to monogenic lipid disorders in humans and/or mice, suggesting that a spectrum of common and rare alleles at each validated locus contributes to blood lipid concentrations. Summary At least 19 loci harbor common variations that contribute to blood lipid concentrations in humans. Larger scale genome-wide association studies should identify additional loci, and sequencing of these loci should pinpoint all relevant alleles. With a full catalog of DNA polymorphisms in hand, a panel of lipid-related variants can be studied to provide clinical risk stratification and targeting of therapeutic interventions.},
  author       = {Kathiresan, Sekar and Musunuru, Kiran and Orho-Melander, Marju},
  issn         = {1473-6535},
  keyword      = {cholesterol,LDL,HDL cholesterol,complex trait genetics,genome-wide association,single nucleotide polymorphism,triglycerides},
  language     = {eng},
  number       = {2},
  pages        = {122--127},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Current Opinion in Lipidology},
  title        = {Defining the spectrum of alleles that contribute to blood lipid concentrations in humans},
  volume       = {19},
  year         = {2008},
}