TY - JOUR
T1 - Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample
AU - Pineda-Cirera, Laura
AU - Cabana-Domínguez, Judit
AU - Roncero, Carlos
AU - Cozar, Mònica
AU - Grau-López, Lara
AU - Abad, Alfonso C.
AU - Martínez-Luna, Nieves
AU - Robles-Martínez, María
AU - Sánchez-Mora, Cristina
AU - Ramos-Quiroga, Josep Antoni
AU - Casas, Miquel
AU - Ribasés, Marta
AU - Fernàndez-Castillo, Noèlia
AU - Cormand, Bru
PY - 2018/6/1
Y1 - 2018/6/1
N2 - © 2018 Elsevier B.V. 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.
AB - © 2018 Elsevier B.V. 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.
KW - Cocaine dependence
KW - Genome-wide association study (GWAS)
KW - Meta-analysis
KW - Replication study
KW - Substance dependence
KW - rs2952621
U2 - 10.1016/j.drugalcdep.2018.03.013
DO - 10.1016/j.drugalcdep.2018.03.013
M3 - Article
SN - 0376-8716
VL - 187
SP - 358
EP - 362
JO - Drug and Alcohol Dependence
JF - Drug and Alcohol Dependence
ER -