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Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder

Artikel i vetenskaplig tidskrift
Författare J. Song
S. E. Bergen
A. Di Florio
R. Karlsson
A. Charney
D. M. Ruderfer
E. A. Stahl
K. D. Chambert
J. L. Moran
K. Gordon-Smith
L. Forty
E. K. Green
I. Jones
L. Jones
E. M. Scolnick
P. Sklar
J. W. Smoller
P. Lichtenstein
C. Hultman
N. Craddock
Mikael Landén
Publicerad i Molecular Psychiatry
Volym 21
Nummer/häfte 9
Sidor 1290-1297
ISSN 1359-4184
Publiceringsår 2016
Publicerad vid Institutionen för neurovetenskap och fysiologi
Sidor 1290-1297
Språk en
Länkar dx.doi.org/10.1038/mp.2015.165
Ämnesord receptor potential channels, neurotrophic factor gene, prophylactic, lithium, maintenance treatment, japanese patients, trpc5 channels, brain, mechanism, polymorphism, schizophrenia, Biochemistry & Molecular Biology, Neurosciences & Neurology, Psychiatry
Ämneskategorier Psykiatri

Sammanfattning

Lithium is the mainstay prophylactic treatment for bipolar disorder (BD), but treatment response varies considerably across individuals. Patients who respond well to lithium treatment might represent a relatively homogeneous subtype of this genetically and phenotypically diverse disorder. Here, we performed genome-wide association studies (GWAS) to identify (i) specific genetic variations influencing lithium response and (ii) genetic variants associated with risk for lithium-responsive BD. Patients with BD and controls were recruited from Sweden and the United Kingdom. GWAS were performed on 2698 patients with subjectively defined (self-reported) lithium response and 1176 patients with objectively defined (clinically documented) lithium response. We next conducted GWAS comparing lithium responders with healthy controls (1639 subjective responders and 8899 controls; 323 objective responders and 6684 controls). Meta-analyses of Swedish and UK results revealed no significant associations with lithium response within the bipolar subjects. However, when comparing lithium-responsive patients with controls, two imputed markers attained genome-wide significant associations, among which one was validated in confirmatory genotyping (rs116323614, P = 2.74 x 10(-8)). It is an intronic single-nucleotide polymorphism (SNP) on chromosome 2q31.2 in the gene SEC14 and spectrin domains 1 (SESTD1), which encodes a protein involved in regulation of phospholipids. Phospholipids have been strongly implicated as lithium treatment targets. Furthermore, we estimated the proportion of variance for lithium-responsive BD explained by common variants ('SNP heritability') as 0.25 and 0.29 using two definitions of lithium response. Our results revealed a genetic variant in SESTD1 associated with risk for lithium-responsive BD, suggesting that the understanding of BD etiology could be furthered by focusing on this subtype of BD.

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