Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1

Neville, Matt J.; Johnstone, Elaine; Walton, Robert

doi:10.1002/humu.20039

Cited by 571 publications

(457 citation statements)

References 20 publications

(18 reference statements)

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“…33 Genetic variation in DRD2 has been investigated; the TaqI A1 variant is a 32806 C4T substitution at 10 kb downstream of DRD2 and lies within a novel, as yet uncharacterized, kinase gene ANKK1. 58 Some studies, but not all, found the TaqI A1 allele resulted in a lower density of D 2 receptors in the human striatum in vitro and in vivo. [59][60][61][62] The TaqI A1 allele may be a risk factor for a variety of smoking behaviors (Table 2); [63][64][65][66][67][68] however, other studies were not able to replicate these findings.…”

Section: Mk Ho and Rf Tyndale 86mentioning

confidence: 99%

Overview of the pharmacogenomics of cigarette smoking

Tyndale

2007

Pharmacogenomics J

102

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Cigarette smoking increases the risk of numerous health problems, including cancer, cardiovascular and pulmonary disorders, making smoking the leading cause of preventable death in the world. Nicotine is primarily responsible for the highly addictive properties of cigarettes. Although the majority of smokers express a desire to quit, few are successful in doing so. Twin and family studies have indicated substantial genetic contributions to smoking behaviors. One major research focus has been to elucidate the specific genes involved; this has been accomplished primarily through genome-wide linkage analyses and candidate gene association studies. Much attention has focused on genes involved in the neurotransmitter pathways for the brain reward system and genes altering nicotine metabolism. This paper reviews the current state of knowledge for genetic factors implicated in smoking behaviors, and examines how genetic variations may affect therapeutic outcomes for drugs used to assist smoking cessation.

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Section: Mk Ho and Rf Tyndale 86mentioning

confidence: 99%

Overview of the pharmacogenomics of cigarette smoking

Tyndale

2007

Pharmacogenomics J

102

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“…5 Recent findings, however, now place the TaqI-A polymorphism within an exon of an adjacent new protein kinase gene called 'ankyrin repeat and kinase domain containing 1' (ANKK1), which may influence signal transduction in the central nervous system (CNS). 6 Among those of European ancestry, the TaqI-A polymorphism is in linkage disequilibrium (LD) with the TaqI-B 5 and the DRD2 C957T, 7 although not with the À141C Ins/Del polymorphism. 8 The C957T and the À141C Ins/Del are functional alleles in the DRD2 gene that have been associated with mRNA stability and expression.…”

Section: Introductionmentioning

confidence: 99%

The DRD2 TaqI-B polymorphism and its relationship to smoking abstinence and withdrawal symptoms

et al. 2006

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The dopamine receptor D2 (DRD2) gene has polymorphisms that have been linked to regulation of the dopamine system and to an increased prevalence of smoking. The present study examined the relationship of the DRD2 TaqI-A and -B polymorphisms with short-term clinical outcome (abstinence and withdrawal symptoms), collected from daily (14 pre-quit and 42 post-quit) diary data among smokers (n ¼ 116) treated with the nicotine patch plus either venlafaxine or placebo. The results showed that B1/B1 or B1/B2 smokers were slightly less likely to be abstinent on a given day than those homozygous for the TaqI-B2 allele. Significant DRD2 TaqI-B Â time interactions were found for several of the withdrawal scales, indicating that those smokers with the B1/B1 or B1/B2 genotypes tended to report more symptoms over time compared to those with the B2/B2 genotype. No interactions or main effects were found for the DRD2 TaqI-A polymorphism. The findings demonstrate that smokers homozygous for the TaqI-B2 allele experience progressive improvement in self-reported withdrawal symptoms while smokers with the TaqI-B1 allele showing little change.

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“…Of some interest is the fact that ANKK1 is not expressed in brain though carriers of the A1 allele appear to show associated functional activation using fMRI in the anterior cingulate gyrus [Fosella et al, 2006]. These results suggest that while TaqI A is now known to not be within the DRD2 gene and has been mapped to the ANKK1 gene [Neville et al, 2004], TaqI A may have a role in DRD2 functioning.…”

Section: Introductionmentioning

confidence: 99%

“…Recently, a novel kinase gene, named ankyrin repeat kinase domain containing 1 (ANKK1) was identified that contains a single serine/threonine kinase domain and is expressed in placenta and whole spinal cord RNA [Neville et al, 2004]. The gene is a member of an extensive family of proteins involved in signal transduction pathways.…”

Section: Introductionmentioning

confidence: 99%

Dopaminergic mutations: Within‐family association and linkage in multiplex alcohol dependence families

Hill

Hoffman

Zezza

et al. 2008

American J of Med Genetics Pt B

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Animal and human studies of addiction indicate that the D2 dopamine receptor (DRD2) plays a critical role in the mechanism of drug reward. D2 receptor density in the brains of alcoholics has been shown to be reduced relative to controls. Previous studies of DRD2 in association with alcohol dependence using variation in the TaqI A locus were highly controversial. Recently, a synonymous mutation, C957T, in the coding region of the human DRD2 gene has been identified which appears to have functional effects including alteration in receptor availability. In order to determine if susceptibility to alcohol dependence (AD) within multiplex alcohol dependence families would be altered by the C957T in the coding region of the D2 gene, within-family association was studied in members of Caucasian multiplex alcohol dependence families. Members of control families with no personal alcohol or substance dependence history were included for case/control comparisons. Analyses performed to detect within-family association showed evidence favoring an association for the C957T polymorphism (P = 0.038). Linkage analyses of polymorphisms in this region showed that only the C957T locus remained of interest (P = 0.015). Evidence for the C957T T allele having a role in AD susceptibility at the population level using a case/control comparison was statistically marginal (P = 0.062), but was consistent with the family data results. These results support a role for DRD2 as a susceptibility gene for alcohol dependence within multiplex families at high risk for developing alcohol dependence.

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Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1

Cited by 571 publications

References 20 publications

Overview of the pharmacogenomics of cigarette smoking

Overview of the pharmacogenomics of cigarette smoking

The DRD2 TaqI-B polymorphism and its relationship to smoking abstinence and withdrawal symptoms

Dopaminergic mutations: Within‐family association and linkage in multiplex alcohol dependence families

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