Is Ankyrin a genetic risk factor for psychiatric phenotypes?

Alejandro Gella,Núria Durany,Bruno Pfuhlmann,Mònica Segura,Gerald Stöber,Micha Gawlik

doi:10.1186/1471-244x-11-103

Alejandro Gella, Núria Durany + Show 4 more

Open Access

https://doi.org/10.1186/1471-244x-11-103

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Abstract

BackgroundGenome wide association studies reported two single nucleotide polymorphisms in ANK3 (rs9804190 and rs10994336) as independent genetic risk factors for bipolar disorder. Another SNP in ANK3 (rs10761482) was associated with schizophrenia in a large European sample. Within the debate on common susceptibility genes for schizophrenia and bipolar disorder, we tried to investigate common findings by analyzing association of ANK3 with schizophrenia, bipolar disorder and unipolar depression.MethodsWe genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs10761482) in a case-control sample of German descent including 920 patients with schizophrenia, 400 with bipolar affective disorder, 220 patients with unipolar depression according to ICD 10 and 480 healthy controls. Sample was further differentiated according to Leonhard's classification featuring disease entities with specific combination of bipolar and psychotic syndromes.ResultsWe found no association of rs9804190 and rs10994336 with bipolar disorder, unipolar depression or schizophrenia. In contrast to previous findings rs10761482 was associated with bipolar disorder (p = 0.015) but not with schizophrenia or unipolar depression. We observed no association with disease entities according to Leonhard's classification.ConclusionOur results support a specific genetic contribution of ANK3 to bipolar disorder though we failed to replicate findings for schizophrenia. We cannot confirm ANK3 as a common risk factor for different diseases.

Highlights

Genome wide association studies reported two single nucleotide polymorphisms in ANK3 as independent genetic risk factors for bipolar disorder
For bipolar disorder the most promising results have been reported for CACNA1C and ANK3 [3,4,5]
A genome wide association studies (GWAs) study based on pooled DNA found association with bipolar disorder and rs9804190 located intronic between exon 36 and 37 at the locus ANK3 [6]

Summary

Introduction

Genome wide association studies reported two single nucleotide polymorphisms in ANK3 (rs9804190 and rs10994336) as independent genetic risk factors for bipolar disorder. Another SNP in ANK3 (rs10761482) was associated with schizophrenia in a large European sample. CACNA1C and ZNF804A were proposed as common risk variants for both bipolar disorder. A GWA study based on pooled DNA found association with bipolar disorder and rs9804190 located intronic between exon 36 and 37 at the locus ANK3 [6]. Analysis in a GWA study of a Norwegian discovery sample with a large European replication sample reported association of rs10761482 located near 3-UTR between exon 41 and 42 with disease at a distance of 84.5 kb to rs9804190 [10]

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Conclusion