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American Journal of Medical Genetics Part B Neuropsychiatric Genetics
Article . 2014 . Peer-reviewed
License: CC BY
Data sources: Crossref
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PubMed Central
Other literature type . 2014
License: CC BY
Data sources: PubMed Central
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UCL Discovery
Article . 2014
Data sources: UCL Discovery
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Allelic association, DNA resequencing and copy number variation at the metabotropic glutamate receptor GRM7 gene locus in bipolar disorder

Authors: Kandaswamy, R; McQuillin, A; Curtis, D; Gurling, H;

Allelic association, DNA resequencing and copy number variation at the metabotropic glutamate receptor GRM7 gene locus in bipolar disorder

Abstract

Genetic markers at the GRM7 gene have shown allelic association with bipolar disorder (BP) in several case–control samples including our own sample. In this report, we present results of resequencing the GRM7 gene in 32 bipolar samples and 32 random controls selected from 553 bipolar cases and 547 control samples (UCL1). Novel and potential etiological base pair changes discovered by resequencing were genotyped in the entire UCL case–control sample. We also report on the association between GRM7 and BP in a second sample of 593 patients and 642 controls (UCL2). The three most significantly associated SNPs in the original UCL1 BP GWAS sample were genotyped in the UCL2 sample, of which none were associated. After combining the genotype data for the two samples only two (rs1508724 and rs6769814) of the original three SNP markers remained significantly associated with BP. DNA sequencing revealed mutations in three cases which were absent in control subjects. A 3′‐UTR SNP rs56173829 was found to be significantly associated with BP in the whole UCL sample (P = 0.035; OR = 0.482), the rare allele being less common in cases compared to controls. Bioinformatic analyses predicted a change in the centroid secondary structure of RNA and alterations in the miRNA binding sites for the mutated base of rs56173829. We also validated two deletions and a duplication within GRM7 using quantitative‐PCR which provides further support for the pre‐existing evidence that copy number variants at GRM7 may have a role in the etiology of BP. © 2014 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Published by Wiley Periodicals, Inc.

Keywords

Bipolar Disorder, DNA Copy Number Variations, CNV, Reproducibility of Results, 3′-UTR, Sequence Analysis, DNA, Receptors, Metabotropic Glutamate, Polymorphism, Single Nucleotide, allelic association study, 3 '-UTR, Haplotypes, Genetic Loci, Case-Control Studies, Humans, Genetic Predisposition to Disease, genetic, case-control, Research Articles, Alleles, Genome-Wide Association Study

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
38
Top 10%
Average
Top 10%
Green
hybrid