Clinical significance ANKK1

1 clinical significance

1.1 a1+ allele
1.2 a1+ genotype frequencies
1.3 addictive behaviors

clinical significance

this gene contains single nucleotide polymorphism causes amino acid substitution within 11th of 12 ankyrin repeats of ankk1 (glu713lys of 765 residues). polymorphism, commonly referred taq1a, believed located in promoter region of drd2 gene, since polymorphism proximal drd2 gene , can influence drd2 receptor expression. known located in coding region of ankk1 gene controls synthesis of dopamine in brain. a1 allele associated increased activity of striatal l-amino acid decarboxylase.

a1+ allele

hepatitis c infection
antisocial personality disorder
borderline personality traits
schizoid/avoidant behavior

given a1+ allele associated antisocial personality disorder, 1 may infer allele associated narcissistic personality disorder , histrionic personality disorder. however, these predictions have not yet been empirically verified.

a1+ genotype frequencies

european population estimates a1+ genotype frequencies range 20.8 43.4% (national center of biotechnology information (ncbi), identification number rs1800497).

addictive behaviors

the ankk1 gene closely linked dopamine receptor d2 (drd2) on chromosome band 11q23.1. a1 allele of taq1a polymorphism (rs1800497t), located ≈10kb downstream of dopamine receptor drd2 gene. dopamine (da) neurotransmitter in brain, controls feelings of wellbeing. sensation results interaction of dopamine , other neurotransmitters such serotonin, opioids, , other brain chemicals. dopamine increases motivation food cravings , appetite mediation.

the reward deficiency syndrome (rds) involves pleasures or reward mechanisms rely on dopamine. result of deficiency based on genetic makeup; helps explain how simple genetic anomalies can give rise complex aberrant behaviours ones mentioned previously. a1 allelic prevalence has been reported higher in obese individuals in lean subjects, moreover, individuals increased body mass index (bmi) (bmi >30 kg/m²) have fewer drd2 dopamine receptors. investigators have suggested hormonal mechanism may underline gender difference in ability suppress hunger in relation snp, may contribute greater incidence of obesity in women compared men. however, authors have pointed out a1 carriers have difficulty in learning negative feedback in reinforcement-learning task , less efficient @ learning avoid actions have negative consequences.