Highly Recurrent Copy Number Variations in GABRB2 Associated With Schizophrenia and Premenstrual Dysphoric Disorder

Frontiers in Psychiatry
Ata UllahHong Xue

Abstract

Although single-nucleotide polymorphisms in GABRB2, the gene encoding for GABAA receptors β2 subunit, have been associated with schizophrenia (SCZ), it is unknown whether there is any association of copy number variations (CNVs) in this gene with either SCZ or premenstrual dysphoric disorder (PMDD). In this study, the occurrences of the recurrent CNVs esv2730987 in Intron 6 and nsv1177513 in Exon 11 of GABRB2 in Chinese and German SCZ, and Chinese PMDD patients were compared to controls of same ethnicity and gender by quantitative PCR (qPCR). The results demonstrated that copy-number-gains were enriched in both SCZ and PMDD patients with significant odds ratios (OR). For combined-gender SCZ patients versus controls, about two-fold increases were observed in both ethnic groups at both esv2730987 (OR = 2.15, p = 5.32E-4 in Chinese group; OR = 2.79, p = 8.84E-3 in German group) and nsv1177513 (OR = 3.29, p = 1.28E-11 in Chinese group; OR = 2.44, p = 6.17E-5 in German group). The most significant copy-number-gains were observed in Chinese females at nsv1177513 (OR = 3.41), and German females at esv2730987 (OR=3.96). Copy-number-gains were also enriched in Chinese PMDD patients versus controls at esv2730987 (OR = 10.53, p = 4.34E-26...Continue Reading

References

Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Mar 4, 2005·Journal of Medical Genetics·N CraddockM J Owen
Sep 21, 2005·Molecular Psychiatry·T L PetryshenP Sklar
Oct 26, 2005·Proceedings of the National Academy of Sciences of the United States of America·Xenia ProtopopescuEmily Stern
Mar 30, 2006·Neurogenetics·Verena MatejasBernd Rautenstrauss
Aug 22, 2008·Schizophrenia Research·Jiajun ShiChunyu Liu
Nov 8, 2008·Schizophrenia Bulletin·David St Clair
Jan 12, 2010·Methods : a Companion to Methods in Enzymology·Barbara D'haeneJan Hellemans
May 5, 2010·The American Journal of Psychiatry·Anne S BassettLinda M Brzustowicz
Oct 5, 2010·British Journal of Pharmacology·Sahruh TurkmenInga-Maj Johansson
Nov 26, 2010·Biological Psychiatry·Andrea J RapkinEdythe D London
Feb 18, 2011·Genome Biology·Li YangLing-Ling Chen
May 5, 2011·Neuroscience·G A van WingenG Fernández
Mar 2, 2013·The American Journal of Psychiatry·C Neill Epperson
May 3, 2013·PloS One·Shui Ying TsangHong Xue
Sep 17, 2014·Nature Reviews. Genetics·John S WitteNaomi R Wray
Feb 9, 2016·Scientific Reports·Siu-Kin NgHong Xue
Nov 22, 2016·Nature Genetics·Christian R MarshallUNKNOWN CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
Jan 14, 2018·Scientific Reports·Verena ZuberOle A Andreassen
Sep 28, 2018·Current Genomics·Alexandra R LewKinga Szigeti
Apr 2, 2019·Frontiers in Neuroscience·Ole Kristian DrangeOle A Andreassen
Sep 9, 2019·Biological Trace Element Research·Yunfeng GuanHongmei Shen

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Datasets Mentioned

BETA
SCV001334137

Methods Mentioned

BETA
PCR

Software Mentioned

dbVar
PrimerBlast
LightCycler SW
INDI

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