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. 2004 Jan 23;355(1-2):69-72.
doi: 10.1016/j.neulet.2003.10.043.

Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder

Chen-Jee Hong  1 , I-Ching Lai, Ling-Ling Liou, Shih-Jen Tsai
Affiliations

Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder

Chen-Jee Hong et al. Neurosci Lett. .

Abstract

The human alpha7 nicotinic acetylcholine receptor subunit (CHRNA7) gene cluster maps to the chromosome 15q13-q14 and is implicated as a candidate gene for bipolar disorder (BPD) by genetic linkage study. A -2 bp deletion polymorphism has been found in the duplicated CHRNA7 (CHRNA7-like) gene, which is located 1 Mb apart from CHRNA7. We tested the hypothesis that the allelic variant, 2 bp deletion (-2 bp), confers susceptibility to BPD or is related to the psychotic features of BPD. We genotyped the -2 bp polymorphism in 77 patients with BPD and 135 normal controls. The distribution of -2 bp genotypes showed a moderately significant difference between the BPD patients and controls (P=0.044). Three BPD patients carried more than two alleles of the -2 bp deletion genotype, while this genotype was not found in the control group. The -2 bp polymorphism was not associated with age of onset or psychotic features in BPD patients. The results of this study suggest that the -2 bp polymorphism or a nearby polymorphism may play a role in the pathogenesis of BPD. Determination of the functional impact of the -2 bp variant in the nervous system and, in particular, the effect of harboring more than two alleles of the -2 bp deletion needs further exploration.

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