Association of the Serotonin Transporter Gene With Smoking Behavior

Kremer, I; Bachner‐Melman, Rachel; Reshef, Alon; Broude, Leonid; Nemanov, Lubov; Gritsenko, Inga; Heresco-Levy, Uriel; Elizur, Yoel; Ebstein, Richard P.

doi:10.1176/appi.ajp.162.5.924

Cited by 87 publications

(84 citation statements)

References 33 publications

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“…56 The results from the population design were confirmed in the family-based analysis. A weak association was observed between Novelty Seeking and the SLC6A4 intron 2 VNTR polymorphism and between Reward and 5-HTTLPR.…”

Section: Allelic Heterogeneitymentioning

confidence: 67%

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The molecular genetic architecture of human personality: beyond self-report questionnaires

2006

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Molecular genetic studies of personality began with two high impact papers in 1996 that showed provisional associations between the dopamine DRD4 exon III repeat region and Novelty Seeking/Extraversion. These first two reports were shortly followed by an investigation linking Neuroticism/Harm Avoidance with the serotonin transporter (SLC6A4) promoter region polymorphism (5-HTTLPR). In the ensuing decade, thousands of subjects have been studied for association between these genes and personality, assessed by using self-report questionnaires, with erratic success in replication of the first findings for Novelty Seeking (DRD4) and Harm Avoidance (5-HTTLPR). Small effect sizes characteristic of non-Mendelian traits, polygenic patterns of inheritance and true heterogeneity between studies confound attempts to reach a consensus regarding the role of common polymorphisms in contributing to personality domains. Nevertheless, the current state of personality genetics is far from being bleak. Several new paradigms especially functional neuroimaging or 'imaging genomics' have strengthened the connection between 5-HTTLPR and anxiety-related personality traits. The demonstrations that early environmental information can considerably strengthen and even uncover associations between genes and behavior (Caspi's seminal studies and more recently the demonstration that early environment impacts on DRD4 and Novelty Seeking) are notable and herald a new era of personality genetics. Finally, consideration of the broader phenotypic expression of common polymorphisms (e.g. the 'social brain', altruism, etc.) and the use of new experimental paradigms including neurophysiological, neuropsychological and computer games that go beyond the narrow self-report questionnaire design will enable a deeper understanding of how common genetic polymorphisms modulate human behavior. Human personality, defined by Webster as the quality or state of being a person or the complex of characteristics that distinguishes an individual, surely requires a more encompassing view towards understanding its complex molecular genetic architecture.

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Section: Allelic Heterogeneitymentioning

confidence: 67%

“…As discussed below, we have recently examined both SLC6A4 polymorphisms in a study of smoking behavior and personality traits 56 as well as in a molecular genetic study of a musical phenotype.…”

Section: Allelic Heterogeneitymentioning

confidence: 99%

The molecular genetic architecture of human personality: beyond self-report questionnaires

2006

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“…21,22 Genotyping Amplification of the RS1, RS3 and AVR microsatellites was achieved using the following primers, as first described by Thibonnier et al Each reaction mixture contained 0.5 mM primer. A ReddyMix master mix was used (Abgene, Surrey, UK) at a magnesium concentration of 1.5-2.5 mM MgCl 2 .…”

Section: Participantsmentioning

confidence: 99%

Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills

et al. 2006

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We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland Adaptive Behavior Scale (VABS), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Scale-Generic (ADOS-G), measures that are widely used to diagnose autism spectrum disorders. We tested for association between the AVPR1a microsatellites and autism in 116 families (128 probands diagnosed with the ADI-R and ADOS-G using a family-based association test (UNPHASED)). Testing each individual microsatellite showed significant transmission disequilibrium in these families with the AVR intronic microsatellite (UNPHASED: LRS = 11.46, global P-value = 0.009, df = 3). Haplotype analysis of three microsatellites also showed significant association (LRS = 144.94, df = 103, global P = 0.004). Additionally, significant association is observed between these three microsatellite haplotypes and the VABS scores (P = 0.009), with the ADI-R (P = 0.009) and the ADOS-G (P = 0.0000765) diagnoses of autistic disorder versus pervasive developmental disorder-not otherwise specified (PDD-NOS) that were available for 47 of these probands. This is the third consecutive report of an association between the AVPR1a gene and autism spectrum disorders and in the current study a third microsatellite is shown to be associated with autism spectrum disorders as well as haplotypes consisting of all three markers. Importantly, the association appears to be mainly mediated by the role of the AVPR1a gene in shaping socialization skills, similar to its role in lower vertebrates.

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“…32 The dopaminergic and serotonergic systems have been shown to influence cognitive and motor functions in human and animal studies. 8,10,13,34,35 Neurophysiological studies have shown that listening to music has a strong impact on activity in a network of mesolimbic structures involved in reward processing. 34,35 We have previously studied the association between musical aptitude and creativity in music and the polymorphisms of the DRD2 (plus COMT and TPH1 genes), but did not found an association.…”

Section: Discussionmentioning

confidence: 99%

“…9 Serotoninand dopaminergic systems have been associated with emotional processing. The role of the SLC6A4 polymorphism 5-HTTLPR has previously been studied in reward-seeking behaviors, 10 and in neuropsychiatric conditions. 11-12 SLC6A4 together with AVPR1A polymorphisms have been reported to associate with artistic creativity in professional dancers 13 and with short-term musical memory.…”

Section: Introductionmentioning

confidence: 99%

Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music

et al. 2011

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Music is listened in all cultures. We hypothesize that willingness to produce and perceive sound and music is social communication that needs musical aptitude. Here, listening to music was surveyed using a web-based questionnaire and musical aptitude using the auditory structuring ability test (Karma Music test) and Carl Seashores tests for pitch and for time. Three highly polymorphic microsatellite markers (RS3, RS1 and AVR) of the arginine vasopressin receptor 1A (AVPR1A) gene, previously associated with social communication and attachment, were genotyped and analyzed in 31 Finnish families (n¼437 members) using family-based association analysis. A positive association between the AVPR1A haplotype (RS1 and AVR) and active current listening to music (permuted P¼0.0019) was observed. Other AVPR1A haplotype (RS3 and AVR) showed association with lifelong active listening to music (permuted P¼0.0022). In addition to AVPR1A, two polymorphisms (5-HTTLPR and variable number of tandem repeat) of human serotonin transporter gene (SLC6A4), a candidate gene for many neuropsychiatric disorders and previously associated with emotional processing, were analyzed. No association between listening to music and the polymorphisms of SLC6A4 were detected. The results suggest that willingness to listen to music is related to neurobiological pathways affecting social affiliation and communication.

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Association of the Serotonin Transporter Gene With Smoking Behavior

Cited by 87 publications

References 33 publications

The molecular genetic architecture of human personality: beyond self-report questionnaires

The molecular genetic architecture of human personality: beyond self-report questionnaires

Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills

Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music

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