Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Low density lipoprotein cholesterol level quantitative trait locus

The disposition to develop hight LDL cholesterol levels is hereditary. Among others, the gene HMGCR is responsible.

Systematic

Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
Autosomal dominant hypercholesterolemia 2
Autosomal dominant hypercholesterolemia 3
Autosomal recessive hypercholesterolemia
Low density lipoprotein cholesterol level quantitative trait locus
HMGCR
Lp(a) hyperlipoproteinemia

References:

1.

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

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2.

Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

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3.

Lindgren V et al. (1985) Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

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4.

Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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5.

Goldstein JL et al. (1990) Regulation of the mevalonate pathway.

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6.

Humphries SE et al. (1985) The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase).

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7.

None (1987) Conservation of promoter sequence but not complex intron splicing pattern in human and hamster genes for 3-hydroxy-3-methylglutaryl coenzyme A reductase.

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8.

Mohandas T et al. (1986) Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13----q23 region of chromosome 5.

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9.

Osborne TF et al. (1985) 5' end of HMG CoA reductase gene contains sequences responsible for cholesterol-mediated inhibition of transcription.

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10.

Reynolds GA et al. (1984) HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions.

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11.

Van Doren M et al. (1998) HMG-CoA reductase guides migrating primordial germ cells.

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12.

Istvan ES et al. (2001) Structural mechanism for statin inhibition of HMG-CoA reductase.

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13.

Sever N et al. (2003) Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.

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14.

Wang CY et al. (2003) Lovastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor, induces apoptosis and differentiation in human anaplastic thyroid carcinoma cells.

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15.

Chasman DI et al. (2004) Pharmacogenetic study of statin therapy and cholesterol reduction.

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16.

None (2004) Genetic polymorphisms and statin therapy.

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17.

Yu CY et al. (2014) HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.

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18.

OMIM.ORG article

Omim 142910 [^]
Update: April 29, 2019