The Open Neurology Journal

ISSN: 1874-205X ― Volume 14, 2020

Anxiety-related Endophenotypes and Hazardous Alcohol Use in Young Adults are Associated with a Functional Polymorphism in the SLC6A4 Gene

Karen M. Jiménez1, Angela J. Pereira-Morales1, Ana Adan2, 3, Sandra Lopez-Leon4, Diego A. Forero1, 5, 6, *
1 Laboratory of NeuroPsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia
2 Department of Clinical Psychology and Psychobiology, University of Barcelona, Barcelona, Spain
3 Institute of Neurosciences, University of Barcelona, Barcelona, Spain
4 Novartis Pharmaceuticals Corporation, One Health Plaza, East Hanover, NJ, 07936-1080, USA
5 School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia
6 Laboratory of NeuroPsychiatric Genetics, School of Medicine, Universidad Antonio Nariño, 110231, Bogotá, Colombia



A functional polymorphism (5-HTTLPR, rs4795541) in the serotonin transporter (SLC6A4) gene has been shown as an important candidate for several psychiatric and behavioral traits.


The objective of this study was to examine the possible interaction of this polymorphism with physical neglect in childhood on the presentation of anxiety traits and hazardous alcohol consumption in young Colombian subjects.


272 young adults (mean age: 21.3 years) were evaluated with the Childhood Trauma Questionnaire, the Zung Self-rating Anxiety Scale, the Big Five Inventory, the Cohen’s Perceived Stress Scale, the Alcohol, Smoking, Substance Involvement Screening Test and the Alcohol Use Disorders Identification Test. Genotyping for the 5-HTTLPR polymorphism was carried out using conventional PCR. A linear regression model, corrected by age and gender, was used.


We found that individuals with the L/L genotype showed higher scores on physical neglect (p=0.0047), anxiety symptoms (p=0.028), neuroticism (p=0.019) and perceived stress (p=0.035). L/L genotype was a risk factor for hazardous alcohol use in young adults (OR=3.06, p=0.0003). No GxE interactions were observed in our data.


Our results provide novel evidence for the role of a functional polymorphism in the SLC6A4 gene on the relationship of childhood trauma, anxiety-related traits and risky consumption of alcohol.

Keywords: Alcohol use, Anxiety, Candidate genes, Childhood trauma, Neuroticism, Psychiatric genetics.

Article Information

Identifiers and Pagination:

Year: 2019
Volume: 13
First Page: 83
Last Page: 91
Publisher Id: TONEUJ-13-83
DOI: 10.2174/1874205X01913010083

Article History:

Received Date: 04/04/2019
Revision Received Date: 25/05/2019
Acceptance Date: 18/06/2019
Electronic publication date: 31/07/2019
Collection year: 2019

© 2019 Jiménez et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Laboratory of NeuroPsychiatric Genetics, School of Medicine, Universidad Antonio Nariño, 110231, Bogotá, Colombia; Tel: +57 313 610427; Email:

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