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rs1799807 (BCHE)

What you carry at this position in your DNA and what research says about it.

Anesthetic Sensitivity: 8/10 evidence, 6 publications.

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Sample genotype (not yours): T/T

Normal Anesthesia Recovery

You have typical butyrylcholinesterase enzyme activity. Your body is expected to break down surgical muscle relaxants at a normal rate.

What this genotype means: Typical clearance of surgical muscle relaxants; Standard response to anesthetic drugs.

Sample genotype (not yours): C/C

High Risk of Prolonged Anesthesia Paralysis

You carry two copies of the atypical BCHE variant. You are at high risk for severe, prolonged muscle paralysis after receiving certain anesthetics.

What this genotype means: Severe pseudocholinesterase deficiency; Risk of prolonged post-anesthetic apnea; High sensitivity to cholinesterase-inhibiting chemicals.

Sample genotype (not yours): T/C

Slightly Delayed Anesthesia Recovery

You carry one copy of the atypical BCHE variant. Your enzyme activity is slightly reduced, which may mildly prolong the effects of certain anesthetics.

What this genotype means: Mildly reduced pseudocholinesterase activity; Slightly increased sensitivity to certain pesticides.

About BCHE

Gene function and biological role

Gene Function: The BCHE gene encodes butyrylcholinesterase, a plasma enzyme also known as pseudocholinesterase. This enzyme is produced in the liver and circulates in the blood, where it breaks down choline esters. Its primary clinical role is the rapid clearance of specific muscle relaxants used during general anesthesia, such as succinylcholine and mivacurium. Additionally, it acts as a molecular shield by binding to and neutralizing cholinesterase inhibitors before they can reach vital nerve synapses. When BCHE function is impaired, these compounds remain active in the body far longer than normal.

Variant Impact: The rs1799807 variant, historically known as the atypical or A variant, is a missense mutation in the BCHE gene. This genetic change replaces the amino acid aspartate with glycine at position 98 of the protein, which alters the secondary binding site of the enzyme. This structural modification reduces the enzyme's affinity for its substrates and lowers its overall activity. Consequently, individuals carrying this variant process certain anesthetic drugs and environmental toxins at a significantly slower rate.

Key Insight: While carriers of this variant are completely healthy in daily life, they can experience life-threatening muscle paralysis lasting for hours if given standard doses of common surgical muscle relaxants.

Location: BCHE. Chromosome 3 · 3q26.1 · 165.8 Mb

Genotype Frequencies

Estimated prevalence by population

Global 97.5%; European 96.3%; African 99.3%; East Asian 100.0%; South Asian 99.6%; Americas 97.4%; Ashkenazi 96.7%; Finnish 97.3%; Middle Eastern 92.0%; Amish 97.2%.

Estimated TT genotype frequency.

Global 2.4%; European 3.7%; African 0.7%; East Asian 0.0%; South Asian 0.4%; Americas 2.6%; Ashkenazi 3.2%; Finnish 2.7%; Middle Eastern 7.8%; Amish 2.8%.

Estimated TC genotype frequency.

Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.0%; South Asian < 0.1%; Americas < 0.1%; Ashkenazi < 0.1%; Finnish < 0.1%; Middle Eastern 0.2%; Amish < 0.1%.

Estimated CC genotype frequency.

Associated Traits

Showing effects for T/T genotype

Pharmacogenomics

Anesthesia Response

Anesthesia Recovery. Evidence: 6/10. Typical Recovery.

Drug Metabolism Enzyme Activity

Pesticide Sensitivity. Evidence: 6/10. Typical Tolerance.

Organ Systems

Respiratory Health

COPD. Evidence: 7/10. Source: PMID 37069358. Typical Risk.

Lung Function. Evidence: 8/10. Source: PMID 30804560. Typical.

Showing effects for C/C genotype

Anesthesia Recovery. Evidence: 6/10. Severely Prolonged.

Pesticide Sensitivity. Evidence: 6/10. High Risk.

COPD. Evidence: 7/10. Source: PMID 37069358. Higher Risk.

Lung Function. Evidence: 8/10. Source: PMID 30804560. Reduced.

Showing effects for T/C genotype

Anesthesia Recovery. Evidence: 6/10. Slightly Delayed.

Pesticide Sensitivity. Evidence: 6/10. Increased Risk.

COPD. Evidence: 7/10. Source: PMID 37069358. Slightly Higher Risk.

Lung Function. Evidence: 8/10. Source: PMID 30804560. Slightly Reduced.

What TT Genotype Means

What this genotype means for the people who carry it

Sample genotype: TT (Homozygous)

Your genetic profile shows two copies of the typical BCHE gene, resulting in fully functional butyrylcholinesterase enzymes. When undergoing general anesthesia, your body will clear muscle relaxants like succinylcholine within the standard ten-minute window. You also possess normal protection against cholinesterase-inhibiting compounds found in some pesticides and nightshade vegetables. Because you lack the atypical variant, you are not at risk for inherited pseudocholinesterase deficiency from this specific genetic marker. No special anesthetic precautions are indicated based on this result.

Typical clearance of surgical muscle relaxants; Standard response to anesthetic drugs.

What CC Genotype Means

Sample genotype: CC (Homozygous)

Having two copies of this variant results in an atypical form of the butyrylcholinesterase enzyme with significantly reduced activity. If you are given standard doses of muscle relaxants like succinylcholine or mivacurium during surgery, your body cannot break them down efficiently, which can extend muscle paralysis and the inability to breathe spontaneously for several hours. This condition, known as pseudocholinesterase deficiency, is completely manageable if your medical team is aware beforehand, as they can select alternative medications or keep you safely on breathing support until the drug wears off. You are also highly sensitive to other cholinesterase inhibitors, including organophosphate pesticides and natural alkaloids in nightshade family foods. Additionally, this genotype is associated with lower baseline lung function parameters [1] and an increased risk of developing chronic obstructive pulmonary disease [2].

Severe pseudocholinesterase deficiency; Risk of prolonged post-anesthetic apnea; High sensitivity to cholinesterase-inhibiting chemicals.

What TC Genotype Means

Sample genotype: TC (Heterozygous)

Carrying one copy of the atypical variant means you have a mixture of normal and low-activity butyrylcholinesterase enzymes. Under general anesthesia, your body may take slightly longer than average to clear muscle relaxants like succinylcholine, though the delay is usually minor and rarely causes severe complications on its own. You may also have a slightly higher sensitivity to cholinesterase inhibitors, which are found in certain chemical pesticides and naturally in nightshade plants. Large-scale genetic studies have also linked this variant to minor variations in lung function measurements [1] and a slightly higher susceptibility to chronic obstructive pulmonary disease [2]. It is highly beneficial to share this carrier status with your anesthesiologist prior to any surgical procedures.

Mildly reduced pseudocholinesterase activity; Slightly increased sensitivity to certain pesticides.

Related Variants

Variants with shared genetic architecture

rs1803274 · BCHE Gene · Chr 3 · Alzheimer's Disease Risk

rs118192122 · RYR1 Gene · Chr 19 · Anesthesia Reaction Risk

rs118192161 · RYR1 Gene · Chr 19 · Anesthesia Reaction Risk

Sources

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.

Back to Variant Explorer

Content updated August 2026.

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