ArticleAmerican journal of human genetics2000
A cholesterol-lowering gene maps to chromosome 13q.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.PLoS medicine · 2020Article
- Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis.PLoS computational biology · 2020Article
- In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation inJournal of lipid research · 2019Article
- Digenic inheritance in medical genetics.Journal of medical genetics · 2013Review
- Genome association study of human chromosome 13 and susceptibility to coronary artery disease in a Chinese population.Journal of genetics · 2013Article
- Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.Journal of lipid research · 2012Article
- Joint linkage and segregation analysis under multiallelic trait inheritance: simplifying interpretations for complex traits.Genetic epidemiology · 2010Article
- Admixture mapping of quantitative trait loci for blood lipids in African-Americans.Human molecular genetics · 2009Article
- Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy.International archives of medicine · 2008Article
- Structures of proteins of biomedical interest from the Center for Eukaryotic Structural Genomics.Journal of structural and functional genomics · 2007Review
- Solution structure of a membrane-anchored ubiquitin-fold (MUB) protein from Homo sapiens.Protein science : a publication of the Protein Society · 2007Article
- Cell biology of membrane trafficking in human disease.International review of cytology · 2006Review
- Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia.Human genetics · 2005Article
- Joint oligogenic segregation and linkage analysis using bayesian Markov chain Monte Carlo methods.Molecular biotechnology · 2004Review
- Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment.Human genetics · 2003Article
- Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart Study.American journal of human genetics · 2002Article
- In silico discovery of gene-coding variants in murine quantitative trait loci using strain-specific genome sequence databases.Genome biology · 2002Article
- Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism.American journal of human genetics · 2001Review
- Segregation analysis of phenotypic components of learning disabilities. I. Nonword memory and digit span.American journal of human genetics · 2000Article
Corrections and comments
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Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A cholesterol-lowering gene has been postulated from familial hypercholesterolemia (FH) families having heterozygous persons with normal LDL levels and homozygous individuals with LDL levels similar to those in persons with heterozygous FH. We studied such a family with FH that also had members without FH and with lower-than-normal LDL levels. We performed linkage analyses and identified a locus at 13q, defined by markers D13S156 and D13S158. FASTLINK and GENEHUNTER yielded LOD scores >5 and >4, respectively, whereas an affected-sib-pair analysis gave a peak multipoint LOD score of 4.8, corresponding to a P value of 1.26x10-6. A multipoint quantitative-trait-locus (QTL) linkage analysis with maximum-likelihood binomial QTL verified this locus as a QTL for LDL levels. To test the relevance of this QTL in an independent normal population, we studied MZ and DZ twin subjects. An MZ-DZ comparison confirmed genetic variance with regard to lipid concentrations. We then performed an identity-by-descent linkage analysis on the DZ twins, with markers at the 13q locus. We found strong evidence for linkage at this locus with LDL (P<.0002), HDL (P<.004), total cholesterol (P<.0002), and body-mass index (P<.0001). These data provide support for the existence of a new gene influencing lipid concentrations in humans.
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