Original scientific paper
https://doi.org/10.2478/aiht-2023-74-3690
The association between the CCDC88A gene polymorphism at rs1437396 and alcohol use disorder, with or without major depression disorder
Maria Bonea
orcid.org/0000-0003-1853-4425
; Iuliu Hatieganu University of Medicine and Pharmacy, Department of Neurosciences – Psychiatry, Cluj-Napoca, Romania
Constantin-Ionut Coroama
orcid.org/0009-0004-4458-6848
; Ion Chiricuta Oncology Institute, Cluj-Napoca, Romania
Radu Anghel Popp
; Iuliu Hatieganu University of Medicine and Pharmacy, Department of Medical Genetics, Cluj-Napoca, Romania
Ioana Valentina Miclutia
; Iuliu Hatieganu University of Medicine and Pharmacy, Department of Neurosciences – Psychiatry, Cluj-Napoca, Romania
Abstract
Girdin is a protein involved in neuronal migration and hippocampal development. It is encoded by the coiled-coil domain-containing 88A (CCDC88A) gene, located on the short arm of chromosome 2 (2p). The CCDC88A gene is modulated by the intergenic single-nucleotide polymorphism (SNP) of the rs1437396, situated 9.5 kb downstream from its transcription stop site. As recent genome-wide research has associated the T allele of the SNP with increased risk of alcohol use disorder (AUD), we wanted to validate this finding in an independent cohort and to test further for an association with comorbid major depressive disorder (MDD). The study included 226 AUD patients (AUD group), 53 patients with comorbid MDD, and 391 controls selected randomly. The participants were genotyped for the rs1437396 polymorphism using the real-time polymerase chain reaction. The association between the rs1437396 polymorphism and increased risk of AUD and AUD+MDD was tested with logistic regression. Our results show significantly higher frequency of the T risk allele in the AUD group (p=0.027) and even higher in the AUD+MDD group (p=0.016). In conclusion, this is the first study that has validated the association between the rs1437396 polymorphism of the CCDC88A gene and AUD with or without MDD. Studies on larger samples of patients are needed to further investigate the mechanism of this association.
Keywords
girdin; major depressive disorder; rs1437396 T allele
Hrčak ID:
304385
URI
Publication date:
20.6.2023.
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