Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample.

Drug Alcohol Depend

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 643, 08028 Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Av. Monforte de Lemos 3-5, Pabellón 11, 280029, Madrid, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Av. Diagonal 643, 08028 Barcelona, Catalonia, Spain; Institut de Recerca Sant Joan de Déu (IR-SJD), Passeig de Sant Joan de Déu 2, 08950 Esplugues de Llobregat, Barcelona, Catalonia, Spain. Electronic address:

Published: June 2018

AI Article Synopsis

  • The study investigates genetic factors linked to substance dependence, particularly focusing on cocaine dependence using a sample from Spain.
  • The researchers analyzed three specific genetic variations (SNPs) previously associated with substance dependence and found a significant replication of one variant (rs2952621) in their cohort.
  • Results from a meta-analysis combining their findings with previous studies confirmed the association, suggesting that genetic influences play a crucial role in substance dependence, necessitating further research.

Article Abstract

Background: Substance dependence is a chronic and relapsing disorder explained by genetic and environmental risk factors. The aim of our study is to replicate previous genome-wide significant (GWS) hits identified in substance dependence in general or in cocaine dependence in particular using an independent sample from Spain.

Methods: We evaluated, in a Spanish sample of 1711 subjects with substance dependence (1011 of them cocaine dependent) and 1719 control individuals, three SNPs identified as GWS in previous studies: rs1868152 and rs2952621 (located near LINC02052 and LINC01854, respectively), associated with substance dependence, and rs2629540 (in the first intron of FAM53B), associated with cocaine dependence.

Results: We replicated the association between rs2952621 and substance dependence under the dominant model (P = 0.020), with the risk allele (T) being the same in our sample and in those two reported previously. We then performed a meta-analysis of the two samples used in the original study that reported the association of rs2952621 with substance dependence (Collaborative Studies on Genetics of Alcoholism (COGA) and Study of Addiction: Genetics and Environment (SAGE)) together with our Spanish sample. The meta-analysis of 3747 cases and 4043 controls confirmed the association (OR = 1.26, 95% CI = 1.15-1.39).

Conclusions: The rs2952621 variant, located downstream from the yet uncharacterized gene LINC01854, is associated with substance dependence in our Spanish sample. Further research is needed to understand its contribution to the susceptibility to substance dependence.

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http://dx.doi.org/10.1016/j.drugalcdep.2018.03.013DOI Listing

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