What is the NAT2 gene?
The arylamine N-acetyltransferase 2 (NAT2) enzyme detoxifies a wide spectrum of naturally occurring xenobiotics including carcinogens and drugs. Variation at the NAT2 gene has been linked to the human acetylation capacity, either ‘slow’ or ‘fast’, which modifies susceptibility to cancer and adverse drug reactions.
What is NAT2 rapid metabolizer?
Generally, with respect to NAT2, individuals are therefore classified as rapid metabolizers if they have one or more NAT2*4 alleles, and slow metabolizers only if they carry two slow metabolizer variants.
What does 5 Httlpr stand for?
5-HTTLPR (serotonin-transporter-linked promoter region) is a degenerate repeat polymorphic region in SLC6A4, the gene that codes for the serotonin transporter. Since the polymorphism was identified in the middle of the 1990s, it has been extensively investigated, e.g., in connection with neuropsychiatric disorders.
What is CYP1B1 L432V?
The Cytochrome P450 1B1 (CYP1B1) is a key P450 enzyme involved in the metabolism of exogenous and endogenous substrates. Previous studies have reported the existence of CYP1B1 L432V missense polymorphism in prostate, bladder and renal cancers.
What does the 5-HTT gene do?
The 5-HTT gene has been associated with both depression and autism. The serotonin transporter protein (5-HTT/SLC6A4) transports the neurotransmitter serotonin from synapses to presynaptic neurons. It seems to be an important component in the physiological response to cocaine and amphetamines.
What is rs1056836?
rs1056836, also known as 4326C/G, Val432Leu or L432V, is a SNP in the cytochrome P450 1B1 (CYP1B1) gene. This gene is a member of the CYP1 gene family and one of the major enzymes involved in the hydroxylation of estrogens, a reaction likely to be relevant in hormonal carcinogenesis.
Does everyone have MAOA gene?
Only about a third of people in Western populations have the low-activity form of MAOA. By comparison, low-activity MAOA has been reported to be much more frequent (approaching two-thirds of people) in some populations that had a history of warfare. This led to a controversy over MAOA being dubbed the “warrior gene.”
What happens if you have the MAOA gene?
This condition affects males almost exclusively and is characterized by mild intellectual disability and behavioral problems, including aggressive and violent outbursts. In some cases, particular foods seem to worsen symptoms of the condition.
How does 5-HTT gene affect depression?
A Caucasian population study with 46 MDD patients and ages between 19 to 58 years has shown that the S allele of the 5HTTLPR-VNTR variant may be related to the increased risk of depression by negatively affecting the serotonin reuptake rate due to its low expression [39].
What does the serotonin reuptake transporter do?
SERT, Serotonin Transporter The function of SERT is to take up serotonin (5-HT) released by the activity of serotonergic neurons. It is localized in the central nervous system (CNS) near sites of 5-HT release at terminals and varicosities of serotonergic neurons.
What does NAT2 stand for?
10 – Gene ResultNAT2 N-acetyltransferase 2 [ (human)] This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes.
What are the allele frequencies of NAT2 genetic variants?
It is found that the allele frequencies of known NAT2 genetic variants 191G>A, 282C>T, 341T>C, 481C>T, 590G>A, and 803A>G were 0.7, 26.5, 48.5, 35.3, 30.9, and 32.4%, respectively. The NAT2 allele frequencies were generally similar to those of white Europeans but different from those of Asian and African populations.
Which variants of the NAT2 gene are rapid acetylators?
We genotyped four selected variants of the NAT2 gene (NAT2*5, NAT2*6, NAT2*7, and NAT2*14) by Sanger sequencing. The majority of patients had NAT2 genotypes previously described as slow acetylators including NAT2*5/*5, NAT2*5/*6, NAT2*6/*6, and NAT2*6/*14 (78%) and none were genotyped as rapid acetylators.
Is NAT2 expression associated with drug toxicity?
NAT2 expression in diverse human tissues provides further mechanistic support underlying associations between NAT2 genetic polymorphism, drug toxicity, and/or chemical carcinogenesis. Single nucleotide polymorphism is not involved to variation in sleep time in a Brazilian population.