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Highly Recurrent Copy Number Variations inGABRB2Associated With Schizophrenia and Premenstrual Dysphoric Disorder
Ullah, Ata1,2; Long, Xi1,2; Mat, Wai-Kin1,2; Hu, Taobo1,2; Khan, Muhammad Ismail1,2; Hui, Li3; Zhang, Xiangyang4; Sun, Peng5; Gao, Mingzhou5; Wang, Jieqiong5; Wang, Haijun5; Li, Xia5; Sun, Wenjun5; Qiao, Mingqi5; Xue, Hong1,2,5,6
First AuthorUllah, Ata
Correspondent Emailqmingqi@163.com (mingqi qiao ) ; hxue@ust.hk (hong xue )
Contribution Rank4
Abstract

Objective Although single-nucleotide polymorphisms inGABRB2, the gene encoding for GABA(A)receptors beta 2 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). Methods In this study, the occurrences of the recurrent CNVs esv2730987 in Intron 6 and nsv1177513 in Exon 11 ofGABRB2in Chinese and German SCZ, and Chinese PMDD patients were compared to controls of same ethnicity and gender by quantitative PCR (qPCR). Results 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) and nsv1177513 (OR = 2.39,p =3.19E-5). Conclusion These findings established for the first time the association of highly recurrent CNVs with SCZ and PMDD, suggesting the presence of an overlapping genetic basis with shared biomarkers for these two common psychiatric disorders.

KeywordGABAA receptors schizophrenia premenstrual dysphoric disorder copy number variations genetic factors
2020-06-30
Language英语
DOI10.3389/fpsyt.2020.00572
Source PublicationFRONTIERS IN PSYCHIATRY
ISSN1664-0640
Volume11Pages:9
Subtype实证研究
Indexed BySCI
Funding ProjectUniversity Grants Council of Hong Kong SAR[SRF116SC01] ; University Grants Council of Hong Kong SAR[UROP18SC06] ; University Grants Council of Hong Kong SAR[UROP20SC07] ; Innovation Technology Council of Hong Kong SAR[ITS113/15FP] ; Innovation Technology Council of Hong Kong SAR[ITT/026/18GP] ; Shenzhen Municipal Council of Science and Technology, Guangdong[SZ-SZST11808] ; Shandong Province First Class Disciple Development Grant, Shandong ; Tai-Shan Scholar Program, Shandong ; Ministry of Science and Technology (National Science and Technology Major Project), People's Republic of China[2017ZX09301064] ; National Natural Science Foundation of China[8157151623] ; National Natural Science Foundation of China[81603510]
PublisherFRONTIERS MEDIA SA
WOS KeywordBIPOLAR DISORDER ; GENE-EXPRESSION ; ASSOCIATION ; GABRB2 ; WOMEN ; VARIANTS ; ESTROGEN ; ISOFORMS ; SUBUNIT
WOS Research AreaPsychiatry
WOS SubjectPsychiatry
WOS IDWOS:000553176200001
Citation statistics
Cited Times:1[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Identifierhttp://ir.psych.ac.cn/handle/311026/32312
Collection健康与遗传心理学研究室
Corresponding AuthorQiao, Mingqi; Xue, Hong
Affiliation1.Hong Kong Univ Sci & Technol, Appl Genom Ctr, Div Life Sci, Hong Kong, Peoples R China
2.Hong Kong Univ Sci & Technol, State Key Lab Mol Neurosci, Div Life Sci, Hong Kong, Peoples R China
3.Soochow Univ, Suzhou Guangji Hosp, Affiliated Guangji Hosp, Suzhou, Peoples R China
4.Chinese Acad Sci, Inst Psychol, Beijing, Peoples R China
5.Shandong Univ Tradit Chinese Med, Sch Basic Med, Jinan, Peoples R China
6.China Pharmaceut Univ, Sch Basic Med & Clin Pharm, Nanjing, Peoples R China
Recommended Citation
GB/T 7714
Ullah, Ata,Long, Xi,Mat, Wai-Kin,et al. Highly Recurrent Copy Number Variations inGABRB2Associated With Schizophrenia and Premenstrual Dysphoric Disorder[J]. FRONTIERS IN PSYCHIATRY,2020,11:9.
APA Ullah, Ata.,Long, Xi.,Mat, Wai-Kin.,Hu, Taobo.,Khan, Muhammad Ismail.,...&Xue, Hong.(2020).Highly Recurrent Copy Number Variations inGABRB2Associated With Schizophrenia and Premenstrual Dysphoric Disorder.FRONTIERS IN PSYCHIATRY,11,9.
MLA Ullah, Ata,et al."Highly Recurrent Copy Number Variations inGABRB2Associated With Schizophrenia and Premenstrual Dysphoric Disorder".FRONTIERS IN PSYCHIATRY 11(2020):9.
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