BCHE rs1800411: What Your Genotype Means
The rs1800411 variant in the BCHE gene is a genetic change that alters the structure of the butyrylcholinesterase enzyme. This variant is primarily studied for its association with how the body processes certain muscle-relaxing medications used during anesthesia.
What each genotype means
Typical enzyme activity
This genotype represents the most common form of the BCHE gene, often referred to as the 'Usual' variant. Individuals with this profile typically produce butyrylcholinesterase enzyme at normal levels and activity, which is expected to metabolize medications like succinylcholine or mivacurium at a standard rate.
This is the most common genotype found in the vast majority of the global population.
Reduced enzyme activity
This genotype indicates you carry one copy of the atypical 'A' variant (also known as p.Asp70Gly or BCHE*A). Research suggests that individuals with this heterozygous profile may experience a slightly slower metabolism of certain muscle-relaxing drugs compared to those with the typical genotype, though they are generally less affected than those with two copies of the variant. Please discuss your surgical and anesthesia plans with your clinician or anesthesiologist.
The minor allele is carried by roughly 1 in 25 to 1 in 50 people of European ancestry, making this heterozygous genotype relatively uncommon.
Atypical enzyme deficiency
This genotype indicates you carry two copies of the atypical 'A' variant, which is associated with significantly reduced butyrylcholinesterase activity. This condition can lead to a drastically prolonged period of muscle paralysis following the administration of standard doses of succinylcholine or mivacurium. It is essential to inform your healthcare providers, especially anesthesiologists, of this genetic profile before any medical procedure requiring anesthesia.
This homozygous genotype is rare in the general population, occurring in approximately 1 in 2,500 to 1 in 5,000 individuals of European descent.
Understanding the BCHE Gene and rs1800411
The BCHE gene provides the instructions for producing an enzyme known as butyrylcholinesterase, or pseudocholinesterase. This enzyme is primarily synthesized in the liver and circulates throughout the bloodstream, where it plays a critical role in breaking down specific chemical compounds. The variant rs1800411, often referred to in scientific literature as the atypical A variant or Asp70Gly, represents a specific change in the DNA sequence of this gene. When this variant is present, it can lead to the production of an altered version of the enzyme that may not function as efficiently as the typical version. Because this enzyme is responsible for metabolizing certain drugs, variations in the BCHE gene can influence how long these substances remain active in a person's system.
Clinical Associations and Research Evidence
Research has established that the BCHE gene is linked to a condition known as butyrylcholinesterase deficiency. Individuals with this deficiency may experience prolonged muscle paralysis when exposed to specific neuromuscular blocking agents, such as succinylcholine or mivacurium, which are commonly administered during surgical procedures. The rs1800411 variant is one of several known genetic changes that can contribute to reduced enzyme activity. While the association between BCHE variants and prolonged drug response is well-documented, the clinical impact can vary significantly depending on whether an individual carries one or two copies of the variant. It is important to note that having this variant does not cause health issues in daily life; it is primarily relevant in the context of clinical anesthesia. If you are concerned about your response to anesthesia, you should discuss your genetic profile and medical history with your anesthesiologist or healthcare provider.
Population Frequency and Distribution
The prevalence of the rs1800411 variant varies across different global populations. In European populations, the minor allele frequency is typically observed to be between 0.01 and 0.02. Because this is a relatively low frequency, the homozygous genotype—where an individual inherits the variant from both parents—is quite rare. Genetic databases like gnomAD provide ongoing data regarding the distribution of this variant across diverse ancestral groups. Understanding these frequencies helps researchers and clinicians estimate the likelihood of encountering individuals who might have a reduced capacity to metabolize specific medications. As with many genetic variants, the frequency can differ significantly between populations, and current research continues to refine these estimates as more genomic data becomes available.
What This Information Means for You
Knowing your status for the rs1800411 variant is primarily useful for informing your medical team about potential sensitivities to specific anesthesia medications. This information is not a diagnosis of a disease, nor does it predict your health in everyday situations. If you have received genetic testing results indicating you carry this variant, it is recommended that you share this information with your primary care physician or any specialist performing a procedure that requires anesthesia. They can use this information to adjust medication dosages or select alternative agents to ensure your safety. You should never make changes to your medical care or assume you have a clinical deficiency based solely on a genetic report. Always consult with a qualified healthcare professional to interpret your results in the context of your overall health and clinical needs.
How common is this variant?
The minor allele frequency for rs1800411 is approximately 0.01 to 0.02 in European populations, making the homozygous genotype relatively rare.
Frequently asked questions
What is butyrylcholinesterase deficiency?
It is a condition where the body lacks enough functional butyrylcholinesterase enzyme. This can lead to prolonged muscle paralysis after receiving certain anesthesia drugs like succinylcholine.
Does having the rs1800411 variant mean I am sick?
No, having this variant does not mean you are sick or have a chronic disease. It is a genetic variation that only becomes clinically relevant if you are exposed to specific medications during surgery.
Should I tell my doctor about my BCHE genotype?
Yes, if you are aware that you carry a BCHE variant, you should inform your anesthesiologist before any surgery. They can use this information to plan your anesthesia safely.
Is this variant the same as the 'silent' BCHE phenotype?
No, the rs1800411 variant is specifically associated with the 'atypical' phenotype. Other, different mutations in the BCHE gene are responsible for the 'silent' phenotype.
Sources & further reading
Educational information only, last refreshed 9/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A variant in the BCHE gene associated with butyrylcholinesterase activity levels.
Defines the BCHE atypical (A) variant (p.Asp70Gly) that causes prolonged paralysis and apnea following exposure to neuromuscular blockers such as succinylcholine or mivacurium.
Defines the BCHE fluoride-resistant (F2, p.Gly418Arg) allele that leads to impaired hydrolysis of mivacurium and succinylcholine, increasing prolonged post-anesthesia apnea risk.
Defines the BCHE fluoride-resistant (F1, p.Thr267Met) allele linked to reduced pseudocholinesterase activity and delayed recovery from succinylcholine-induced muscle relaxation.
Commonly known as the BCHE atypical variant (Asp70Gly), this single nucleotide change reduces pseudocholinesterase enzyme activity, affecting drug metabolism in obstetric anesthesia and reproduction-related surgical procedures.