A population-specific HTR2B stop codon predisposes to severe impulsivity

Bevilacqua, Laura; Doly, Stéphane; Kaprio, Jaakko; Yuan, Qiaoping; Tikkanen, Roope; Paunio, Tiina; Zhou, Zhifeng; Wedenoja, Juho; Maroteaux, Luc; Diaz, Silvina Laura; Belmer, Arnauld; Hodgkinson, Colin A.; Dell’Osso, Liliana; Suvisaari, Jaana; Coccaro, Emil F.; Rose, Richard J.; Peltonen, Leena; Virkkunen, Matti; Goldman, David

doi:10.1038/nature09629

Cited by 270 publications

(226 citation statements)

References 40 publications

(55 reference statements)

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“…While Bevilacqua et al (2010) reported that HTR2B Q20 ⁄ was associated with severe impulsivity and novelty seeking in a Finnish sample, we found that a haplotype block containing several adjacent SNPs reported to be in high LD with HTR2B Q20 ⁄ were positively associated with the impulsivity-related trait BAS fun seeking in a Han Chinese sample. While Bevilacqua et al (2010) speculated that this HTR2B Q20 ⁄ haplotype block was related to the recent origin of the Finish population investigated, the finding of a similar haplotype block associated with BAS fun seeking in a different population (Han Chinese) suggests that variation in this genomic region may contribute to impulsivity in many populations. It should be noted, however, that the SNPs used in this study have different minor allele frequency (MAF) in different ethnic populations based on HapMap Data (http:// www.hapmap.org, see Table 1).…”

Section: Discussionmentioning

confidence: 44%

“…Among these significant markers, two of four markers (i.e., rs6437000 and rs1549339) were reported to have high linkage disequilibrium (LD) with the rare HTR2B stop codon in exon 2 identified in the study of Bevilacqua et al (2010). As discussed above, Bevilacqua et al (2010) identified a glutamine-to-stop substitution (i.e., Q20 ⁄ ) in the HTR2B gene, which was associated with severe impulsivity and novelty seeking. The HTR2B Q20 ⁄ mutation led to variable nonsense-mediated RNA decay and blocked expression of the receptor protein.…”

Section: Discussionmentioning

confidence: 99%

“…HTR2B knockout mice show increased impulsive behavior. A possible biochemical mechanism for this increase is that HTR2B knockout male mice show a high level of the hormone testosterone (Bevilacqua et al, 2010). Alternatively, HTR2B might influence BAS fun seeking through its modulation of the interaction between the serotonin and dopamine pathways (Kelsoe, 2010).…”

Section: Discussionmentioning

confidence: 99%

“…The HTR2B Q20 ⁄ mutation led to variable nonsense-mediated RNA decay and blocked expression of the receptor protein. According to Bevilacqua et al (2010), this mutation appears unique to the Finnish population with a frequency of .012. HTR2B Q20 ⁄ was found on a single haplotype background A-G-A-(G/A)-A-A for rs6437000-rs4973377-rs1549339-(stop codon)-rs17586428-rs3806545.…”

Section: Discussionmentioning

confidence: 99%

“…http://dx.doi.org/10.1016/j.paid.2012.07.026 recent studies have shown that variation in the serotonin receptor 2B (HTR2B) gene is associated with impulsivity, a trait highly related to BAS fun seeking as mentioned earlier. Bevilacqua et al (2010) reported that an HTR2B stop codon (Q20 ⁄ ) predisposed individuals to severe impulsivity and higher novelty seeking in a Finnish sample. They also found that knocking-out the HTR2B gene increased impulsive behavior in mice.…”

Section: Introductionmentioning

confidence: 99%

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Impulsive behavior is a key constituent of many psychiatric illnesses, with maladaptive response control being a feature of disorders such as ADHD, schizophrenia, mania, and addiction. In order to understand the neurological underpinnings of impulsivity, a number of behavioral tasks have been developed for use with animal models. Data from studies with rats and other animals have led to the idea of the existence of dissociable components of impulsivity, which in turn informs studies of human disorders and potentially the development of specific therapies. Increasingly, mouse models are being used to investigate the known genetic contribution to psychiatric disorders in which abnormal response control leads to altered impulsive behaviors. In order to maximize the potential of these mouse models, it is important that researchers take into account the non-unitary nature of response control and impulsivity. In this article, we briefly review the tasks available to behavioral neuroscientists and how these can be used in order to tease apart the contribution of a specific genetic lesion into the discrete aspects of impulsive behavior.

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A population-specific HTR2B stop codon predisposes to severe impulsivity

Cited by 270 publications

References 40 publications

Association between the HTR2B gene and the personality trait of fun seeking

Association between the HTR2B gene and the personality trait of fun seeking

Addressing the Associated Conditions of Drug and Alcohol Abuse

An Overview of Measuring Impulsive Behavior in Mice

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