@article{3081313, title = "Excess of allele1 for alpha 3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentric association study", author = "Massat, I and Souery, D and Del-Favero, J and Oruc, L and Noethen, MM and and Blackwood, D and Thomson, M and Muir, W and Papadimitriou, GN and and Dikeos, DG and Kaneva, R and Serretti, A and Lilli, R and Smeraldi, E and and Jakovljevic, M and Folnegovic, V and Rietschel, M and Milanov, V and and Valente, F and Van Broeckhoven, C and Mendlewicz, J", journal = "Journal of Molecular Psychiatry", year = "2002", volume = "7", number = "2", pages = "201-207", publisher = "Nature Publishing Group", issn = "2049-9256", doi = "10.1038/sj.mp.4000953", keywords = "GABRA3; association study; candidate gene; chromosome X; bipolar disorder", abstract = "The available data from preclinical and pharmacological studies on the role of gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in brain GABAergic system activity contributes to the vulnerability to bipolar affective disorders (BPAD). Moreover, the localization of the alpha3 subunit GABA receptor GABRA3 gene on the Xq28, a region of interest in certain forms of bipolar illness, suggests that GABRA3 may be a candidate gene in BPAD. In the present study, we tested the genetic contribution of the GABRA3 dinucleotide polymorphism in a European multicentric case-control sample, matched for sex and ethnogeographical origin. Allele and genotype (in females) frequencies were compared in 185 BPAD patients and 370 controls. A significant increase of genotype 1-1 was observed in BPAD females compared to controls (P=0.0004). Furthermore, when considering recessivity of allele 1 (females with genotype 1-1 and males carrying allele 1), results were even more significant (P=0.00002). Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD." }