Do most humans possess the Catechol-O-Methyltransferase (COMT) gene?

From the Guidelines

Virtually all humans have the COMT gene, as it is a fundamental part of human genetic makeup. The COMT (Catechol-O-methyltransferase) gene provides instructions for making an enzyme that breaks down certain neurotransmitters like dopamine, epinephrine, and norepinephrine in the brain and other tissues [ 1, 1 ].

Key Points

• The gene itself is present in everyone, though it can exist in different variants, with the most studied variation being Val158Met [ 1 ].
• Those with the Val variant typically have higher enzyme activity, breaking down neurotransmitters more quickly, while those with the Met variant have lower enzyme activity [ 1 ].
• These variations can influence aspects of cognitive function, stress response, and potentially susceptibility to certain mental health conditions [ 1, 1 ].

Variants and Their Effects

• The Val158Met variation affects how efficiently the enzyme works, with the Val variant associated with higher enzyme activity and the Met variant with lower enzyme activity [ 1 ].
• The valine allele of COMT has been identified as a risk factor for the later development of cognitive impairment [ 1 ].

Clinical Implications

• Understanding the role of the COMT gene and its variants can help in the management of cognitive impairment and other related conditions [ 1, 1 ].
• Further research is needed to fully understand the implications of the COMT gene and its variants on human health [ 1, 1 ].

From the Research

Presence of the COMT Gene in Humans

• The COMT gene is responsible for encoding the enzyme catechol-O-methyltransferase, which plays a crucial role in the metabolism of catecholamines such as dopamine, epinephrine, and norepinephrine 2, 3.
• Studies have shown that genetic variation at the COMT gene has been associated with various neuropsychiatric conditions, including schizophrenia, panic disorder, and bipolar disorders 4, 5.
• The COMT gene is present in all humans, but the frequency of different alleles and haplotypes can vary among different ethnic groups 6.

Frequency of COMT Gene Alleles

• Research has identified high and low activity alleles of the COMT gene, with the frequency of these alleles differing among various ethnic groups 6.
• For example, the frequency of the low activity allele in Japanese controls was found to be 0.29, which is significantly different from the frequency reported in Caucasians (0.50) 6.
• The interaction between different alleles and haplotypes can have a significant impact on the function of the COMT gene and its association with various diseases 5.

Implications of COMT Gene Variation

• The variation in the COMT gene has been implicated in various neurological and psychiatric disorders, including Parkinson's disease, schizophrenia, and bipolar disorders 2, 3, 4.
• The COMT gene has also been associated with nicotine dependence, sensitivity to pain, and cognitive dysfunctions, particularly in schizophrenia 4.
• Further research is needed to fully understand the complex relationship between COMT gene variation and its implications for human health 5.