Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

The HMGCR gene encodes HMG-CoA reductase, a key enzyme in cholestrol synthesis. Therapeutic inhibition of this enzyme plays an important role in cholesterol lowering. A few single nucleotide variants have been described to influence enzyme production and function, which also have an impact on the efficiency of cholesterol lowering dugs.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Attenuated cholesterol lowering by statins
HMGCR
KIF6
Low density lipoprotein cholesterol level quantitative trait locus
HMGCR

References:

1.

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

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2.

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

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3.

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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4.

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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5.

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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6.

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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7.

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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8.

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

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9.

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

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10.

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

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11.

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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12.

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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13.

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

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14.

None (2004) Genetic polymorphisms and statin therapy.

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15.

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

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16.

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

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17.

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

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Update: Sept. 26, 2018