Genetic variants associated with lithium response in bipolar disorder

A bipolar, emotional technology, applied in the direction of biochemical equipment and methods, microbiological determination/inspection, inorganic active ingredients, etc., can solve problems such as no curative effect

CN105378105AInactive Publication Date: 2016-03-02ACAD SINIC
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Publication Date
2016-03-02
Estimated Expiration
Not applicable · inactive patent

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Abstract

Described herein is a method of determining lithium responsiveness in a bipolar disorder patient. The method includes obtaining a sample from a patient having bipolar disorder, and assaying the sample for the presence or absence of one or more glutamate decarboxylase-like 1 (GADL1) gene variants selected from the group consisting of a T allele of the single nucleotide polymorphism (SNP) rs17026688, a G allele of the SNP rs17026651, and GADL1 1VS8+48delG. The presence of one or more of the GADL1 gene variants indicates that the patient is responsive to lithium treatment.
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Description

technical field

[0001] The present invention relates to a kind of personalized medicine treatment utilizing single nucleotide polymorphism (Single Nucleotide Polymorphism, SNP). Background technique

[0002] Bipolar disorder (Biopolardisorder) is characterized by the recurrent abnormal emotional state of two extremes of agitation and depression, see, for example: Müller-Oerlinghausen et al., Lancet2002; 359:241-7; and FryeMA., NEnglJMed2011; 364:51 -9. Recently, lithium salt (lithium) is the first-line drug for long-term treatment of bipolar disorder, which can effectively reduce the risk of relapse and suicide in patients, see eg: Fountoulakis et al., EurArchPsychiatryClinNeurosci2012;262Suppl1:1-48. However, there are many patients who do not respond to lithium therapy. Contents of the invention

[0003] The invention provides a method for detecting the curative effect of lithium salts (lithium) on patients with bipolar disorder, the method comprising: obtaining a samp...

Examples

Embodiment Construction

[0009] The discovery of a correlation between genetic variants of glutamate decarboxylase-like 1 (GADL1) and lithium efficacy in patients with bipolar disorder was unexpected. Patients with one or more variants of the GADL1 gene were more likely to respond to lithium therapy.

[0010] GADL1 belongs to the second group of decarboxylase (decarboxylase) family, such as the position of the genome (chromosome No. 3), genomic DNA sequence (see, for example, NC_000003.11ReferenceGRCh37.p13PrimaryAssembly, chr3:30767692-30936153), cDNA sequence (see AccessionNo.NM_207359.2) and human GADL1 protein sequence (see eg AccessionNo.NP_997242.2).

[0011] The amino acid sequence of an exemplary GADL1 polypeptide and the cDNA sequence encoding the polypeptide are shown below.

[0012] Human GADL1 amino acid sequence (SEQ ID NO: 1):

[0013] MSSDSDRQCPVDGDIDQQEMIPSKKNAVLVDGVVLNGPTTDAKAGEKFVEEACRLIMEEVVLKATDVNEKVCEWRPPEQLKQLLDLEMRDSGEPPHKLLELCRDVIHYSVKTNHPRFFNQLYAGLDYYSLVARFMTEALNPSVYTYEVSPVF...