Pharmacogenomics (PGx) Gene Analysis
ABCG2:
Physiological Role: Red cell antigen (JR blood group) genotyping
Impact of Variant: The ABCG2 protein also transports certain drugs out of cells. For example, this protein clears some chemotherapy drugs from organs and tissues. Transport of these drugs allows them to have their intended effects and be eliminated from the body.
Clinical Impact: Genetic changes in the ABCG2 gene are associated with a condition called gout, which is a form of arthritis that causes painful joint inflammation.
Medications Impacted: Rosuvastatin, Allopurinol
ADRA2A: Alpha-2A Adrenergic Receptor
Physiological Role: The ADRA2A gene encodes for a protein involved in norepinephrine signaling.
Impact of Variant: Variation within ADRA2A may influence the sensitivity of these receptors to norepinephrine.
Clinical Impact: Distinct genetic variations have been identified that can influence the likelihood of response to methylphenidate for inattentive symptoms of ADHD.
Medications Impacted: Methylphenidate, Amphetamine, Dexmethylphenidate, Dextroamphetamine, Lisdexamfetamine, Methylphenidate
ANKK1:
Physiological Role: Diseases associated with ANKK1 include Heroin Dependence and Antisocial Personality Disorder
Impact of Variant: Among its related pathways are Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics
Clinical Impact: Individuals with altered function of this gene frequently present with an increased risk of pharmacotherapy failure
Medications Impacted: Bupropion, Wellbutrin
APOE:
Physiological Role: Often associated with normal lipid metabolism.
Impact of Variant: The presence of ε2 or ε4 alleles may be a risk factor for multiple conditions including cardiovascular disease
Clinical Impact: ApoE ε2 carriers may be more likely to develop familial dysbetalipoproteinemia or type III hyperlipoproteinemia, Late Onset Alzheimer risk, Atherosclerosis, Stroke
Medications Impacted: Rosiglitazone, Bexarotene, Probucol, Statins
COMT: Catechol-O-Methyltransferase
Physiological Role: The COMT gene encodes for an enzyme, COMT, which breaks down dopamine in the prefrontal cortex of the brain.
Impact of Variant: Variation in this gene can impact the breakdown of dopamine in the prefrontal cortex.
Clinical Impact: Distinct genetic variations have been identified that can influence the likelihood of response to dopaminergic stimulants and certain second generation antipsychotics.
Medications Impacted: Amphetamine, Dexmethylphenidate, Dextroamphetamine, Lisdexamfetamine, Methylphenidate
CYP1A2:
Physiological Role: CYP1A2 gene is responsible for the metabolism of approximately 24% of antidepressant drugs.
Impact of Variant: The activity of these enzymes could be influenced by genetic variations, which may result in individual differences in antidepressant drug metabolism and responses
Clinical Impact: Individuals with decreased function of this gene may present with increased risk of pharmacotherapy failure.
Medications Impacted: Agomelatine, escitalopram, venlafaxine, duloxetine, mirtazapine, phenacetin, caffeine, clozapine, tacrine, propranolol, mexiletine, theophylline
CYP2B6:
Physiological Role: Involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. Metabolism of antiretroviral, antimalarial, anticancer, and antidepressant drugs.
Impact of Variant: Poor medication metabolism
Clinical Impact: Intermediate Metabolizes of this medication, frequently present with higher plasma concentrations of the active medication, thus an increased risk of side effects
Medications Impacted: Methadone, Efavirenz, Nevirapine, Cyclophosphamide
CYP2C19:
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Medications Impacted: abrocitinib, belzutifan, brivaracetam, citalopram, diazepam, clobazam, clopidogrel, voriconazole, flibanserin, pantoprazole, omeprazole, lansoprazole, pantoprazole, dexlansoprazole, citalopram, escitalopram, fluvoxamine, paroxetine, sertraline, amitriptyline, clomipramine, desipramine, doxepin, imipramine, nortriptyline, trimipramine, voriconazole, Prasugrel, Moclobemide, Carisoprodol, Esomeprazole, Rabeprazole, Escitalopram
CYP2C8:
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CYP2C9:
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CYP2D6:
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CYP3A4:
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CYP3A5:
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CYP4F2:
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DPYD:
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F2:
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F5:
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GRIK4:
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HTR2A: Serotonin Receptor 2A
Physiological Role: The HTR2A gene encodes for the 5-HTR2A receptors, which are downregulated by a variety of antidepressants and involved in secondary messenger cascades.
Impact of Variant: The exact mechanism by which variation in HTR2A moderates the effects of antidepressants remains undetermined.
Clinical Impact: Individuals with the A/A genotype are associated with a lower likelihood of response to antidepressants; however, additional data has supported a potential increased likelihood of response to citalopram.
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HTR2C: Serotonin Receptor 2C
Physiological Role: The HTR2C gene encodes for a protein involved in the regulation of satiety.
Impact of Variant: Variation in this gene may impact HTR2C receptor expression.
Clinical Impact: Carrying the T allele can lower the risk of weight gain with second generation antipsychotics.
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MTHFR: Methylenetetrahydrofolate Reductase
Physiological Role: The MTHFR gene encodes for an enzyme responsible for the conversion of folate (folic acid) into the biologically active form, methylfolate. Methylfolate plays a key role in the synthesis of the monoamine neurotransmitters.
Impact of Variant: C677T and A1298C variants are associated with reduced activity of the enzyme and a downstream reduction in methylfolate.
Clinical Impact: Distinct genetic variations may help identify patients with reduced capacity to produce methylfolate and may prompt consideration of l-methylfolate supplementation.
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NUDT15:
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OPRM1: μ-Opioid Receptor
Physiological Role: The OPRM1 gene encodes for a protein that acts as a receptor for opioids in the brain. This receptor can be affected by natural and synthetic compounds.
Impact of Variant: Variation in this gene has been linked to reduced expression of OPRM1.
Clinical Impact: Individuals with the GG genotype may have decreased sensitivity to opioids, which can result in decreased analgesia and the need for higher doses with opioids.
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SLCO1B1:
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TPMT:
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UGT2B15:
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VKORC1:
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