Psychiatric molecular genetics

Functional polymorphisms and transcriptional analysis in the 5′ region of the human serotonin receptor 1B gene (HTR1B) and their associations with psychiatric disorders

The 5-hydroxytryptamine 1B receptor (5-HT1B) plays an essential role in the serotonin (5-HT) system and is widely involved in a variety of brain activities. HTR1B is the gene encoding 5-HT1B. Genome-wide associat...

Authors: Xi Xia, Mei Ding, Jin-feng Xuan, Jia-xin Xing, Jun Yao, Xue Wu and Bao-jie Wang

The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder

A number of studies have shown that genetic factor plays an important role in etiology of panic disorder (PD). The aim of the present study was to examine the association of serotonin-related gene polymorphism...

Authors: Zhili Zou, Yulan Huang, Jinyu Wang, Wenjiao Min and Bo Zhou

A common variant of the NOTCH4 gene modulates functional connectivity of the occipital cortex and its relationship with schizotypal traits

Schizotypal traits are considered as inheritable traits and the endophenotype for schizophrenia. A common variant in the NOTCH4 gene, rs204993, has been linked with schizophrenia, but the neural underpinnings are...

Authors: Xiaohui Xie, Meidan Zu, Long Zhang, Tongjian Bai, Ling Wei, Wanling Huang, Gong-Jun Ji, Bensheng Qiu, Panpan Hu, Yanghua Tian and Kai Wang

Relationship between Toxoplasma gondii seropositivity and schizophrenia in the Lebanese population: potential implication of genetic polymorphism of MMP-9

Toxoplasma multiplication and its persistence into the brain cause a local neuroinflammatory reaction, resulting synthesis of neurotransmitters involved in neurological disorders, especially schizophrenia. The Ma...

Authors: Amata El Mouhawess, Amal Hammoud, Marouan Zoghbi, Souheil Hallit, Chadia Haddad, Kinda El Haddad, Saydeh El Khoury, Jennifer Tannous, Sahar Obeid, Mohamad Adnan Halabi and Nour Mammari

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

3q29 deletion syndrome is associated with a range of medical, neurodevelopmental, and psychiatric phenotypes. The deletion is usually de novo but cases have been reported where the deletion is inherited from a...

Authors: Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells, Michael T. Epstein, Roberto Espana, Michael J. Gambello, Katrina Goines, Cheryl Klaiman, Sookyong Koh, Rossana Sanchez Russo, Celine A. Saulnier, Elaine Walker and Jennifer Gladys Mulle

Rare and common variants analysis of the EMB gene in patients with schizophrenia

Recent genome-wide association study showed rs10940346 locus near EMB gene was significantly associated with schizophrenia and suggested that EMB gene is one of the potentially causal genes for schizophrenia, but...

Authors: Juan Zhou, Chuanchuan Ma, Ke Wang, Xiuli Li, Han Zhang, Jianhua Chen, Zhiqiang Li and Yongyong Shi

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

Machine learning (ML) algorithms and methods offer great tools to analyze large complex genomic datasets. Our goal was to compare the genomic architecture of schizophrenia (SCZ) and autism spectrum disorder (A...

Authors: Sameer Sardaar, Bill Qi, Alexandre Dionne-Laporte, Guy. A. Rouleau, Reihaneh Rabbany and Yannis J. Trakadis

Abnormal expression of rno_circRNA_014900 and rno_circRNA_005442 induced by ketamine in the rat hippocampus

Recent studies have shown that circular RNA (circRNA) is rich in microRNA (miRNA) binding sites. We have previously demonstrated that the antidepressant effect of ketamine is related to the abnormal expression...

Authors: Jing Mao, Tianmei Li, Di Fan, Hongli Zhou, Jianguo Feng, Li Liu, Chunxiang Zhang and Xiaobin Wang

Association between polymorphism of the NEDD4 gene and cognitive dysfunction of schizophrenia patients in Chinese Han population

Schizophrenia is a complex psychiatric disorder with unknown etiology. A number of recent studies have shown that the polymorphism of the neural precursor cell expressed developmentally down-regulated 4 (NEDD4) g...

Authors: Chao Han, Kaiyan Cui, Xiaojiao Bi, Lina Wang, Mengmeng Sun, Limin Yang and Lanfen Liu

Sexual dimorphism in up-regulation of suppressors of cytokine signaling genes in patients with bipolar disorder

Proteins encoded by Suppressors of cytokine signaling (SOCS) genes have critical roles in the regulation of immune responses. Meanwhile, several lines of evidence support the presence of immune dysfunction in bip...

Authors: Amir Keshavarzi, Mohammad Mahdi Eftekharian, Alireza Komaki, Mir Davood Omrani, Vahid Kholghi Oskooei, Mohammad Taheri and Soudeh Ghafouri-Fard

Association between prodynorphin gene polymorphisms and opioid dependence susceptibility: a meta-analysis

Prodynorphin (PDYN) gene polymorphisms have been linked with opioid dependence (OD) with conflicting outcomes, the aim of this study is to synthesize the existing evidence of the association between PDYN polymorp...

Authors: Chang-wang Wang, Min Ma, Wei-guang Lu and Ru-qin Luo

Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population

Autism is a complex neurodevelopmental disorder with high heritability. Zinc finger protein 804A (ZNF804A) was suggested to play important roles in neurodevelopment. Previous studies indicated that single-nucleot...

Authors: Ziqi Wang, Tian Zhang, Jing Liu, Han Wang, Tianlan Lu, Meixiang Jia, Dai Zhang, Lifang Wang and Jun Li

Altered expression of the CSMD1 gene in the peripheral blood of schizophrenia patients

Schizophrenia (SCZ) is a heritable, refractory, and devastating psychiatric disorder. Previous studies have shown that the variants of CUB and sushi multiple domains 1 (CSMD1) demonstrate significant genome-wide ...

Authors: Yansong Liu, Xiaoqian Fu, Zhen Tang, Cui Li, Yong Xu, Fuquan Zhang, Deyi Zhou and Chunming Zhu

Variation in the CACNB2 gene is associated with functional connectivity of the Hippocampus in bipolar disorder

Calcium voltage-gated channel auxiliary subunit β2 is a protein that, in humans, is encoded by the CACNB2 gene. The β2 subunit is an auxiliary protein of voltage-gated calcium channels, which is predominantly exp...

Authors: Fang Liu, Xiaohong Gong, Xudong Yao, Lingling Cui, Zhiyang Yin, Chao Li, Yanqing Tang and Fei Wang

Genetic association of human Corticotropin-Releasing Hormone Receptor 1 (CRHR1) with Internet gaming addiction in Korean male adolescents

The number of people with Internet gaming addiction (IGA) is increasing around the world. IGA is known to be associated with personal characteristics, psychosocial factors, and physiological factors. However, ...

Authors: Jooyeon Park, Jin-Young Sung, Dae-Kwang Kim, In Deok Kong, Tonda L. Hughes and Nahyun Kim

The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations

A substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characteriz...

Authors: Pierandrea Muglia, Michele Filosi, Lucio Da Ros, Tony Kam-Thong, Franco Nardocci, Elisabetta Trabetti, Emiliangelo Ratti, Paolo Rizzini, Alessandro Zuddas, Bernardo Dalla Bernardina and Enrico Domenici

Polymorphisms in the human serotonin receptor 1B (HTR1B) gene are associated with schizophrenia: a case control study

Schizophrenia is associated with multiple neurotransmitter disorders, including serotonin (5-hydroxytryptamine, 5-HT). The neuromodulatory action of serotonin on brain function largely depends on the action of...

Authors: Xi Xia, Mei Ding, Jin-feng Xuan, Jia-xin Xing, Hao Pang, Bao-jie Wang and Jun Yao

FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children

Autism spectrum disorders (ASD) are a complex group of neurodevelopmental disorders with a genetic basis. The role of long-chain polyunsaturated fatty acids (LC-PUFAs) and the occurrence of autism has been the...

Authors: Caihong Sun, Mingyang Zou, Xuelai Wang, Wei Xia, Yongjuan Ma, Shuang Liang, Yanqiu Hao, Lijie Wu and Songbin Fu

Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study

Schizophrenia (SCZ) is associated with increased risk of type 2 diabetes (T2D). The potential diabetogenic effect of concomitant application of psychotropic treatment classes in patients with SCZ has not yet b...

Authors: Vasiliki Mamakou, Sophie Hackinger, Eleni Zengini, Evgenia Tsompanaki, Eirini Marouli, Ioannis Serafetinidis, Bram Prins, Athina Karabela, Eirini Glezou, Lorraine Southam, Nigel W. Rayner, Karoline Kuchenbaecker, Klea Lamnissou, Vassilis Kontaxakis, George Dedoussis, Fragiskos Gonidakis…

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

Mutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report ...

Authors: Kathrin Nickel, Ludger Tebartz van Elst, Katharina Domschke, Birgitta Gläser, Friedrich Stock, Dominique Endres, Simon Maier and Andreas Riedel

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome

3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual d...

Authors: Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells, Roberto Antonio España, Michael J. Gambello, Katrina C. B. Goines, Cheryl Klaiman, Longchuan Li, Derek M. Novacek, Ava Papetti, Rossana Lucia Sanchez Russo, Celine A. Saulnier, Sarah Shultz, Elaine Walker and Jennifer Gladys Mulle

Collective interaction effects associated with mammalian behavioral traits reveal genetic factors connecting fear and hemostasis

Investigation of the genetic architectures that influence the behavioral traits of animals can provide important insights into human neuropsychiatric phenotypes. These traits, however, are often highly polygen...

Authors: Hyung Jun Woo and Jaques Reifman

The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: a systematic narrative review

The neuropeptide Oxytocin (OXT) plays a central role in birthing, mother-infant bonding and a broad range of related social behaviours in mammals. More recently, interest has extended to epigenetic programming...

Authors: Catherine Maud, Joanne Ryan, Jennifer E. McIntosh and Craig A. Olsson

Discovery biology of neuropsychiatric syndromes (DBNS): a center for integrating clinical medicine and basic science

There is emerging evidence that there are shared genetic, environmental and developmental risk factors in psychiatry, that cut across traditional diagnostic boundaries. With this background, the Discovery biol...

Authors: Biju Viswanath, Naren P. Rao, Janardhanan C. Narayanaswamy, Palanimuthu T. Sivakumar, Arun Kandasamy, Muralidharan Kesavan, Urvakhsh Meherwan Mehta, Ganesan Venkatasubramanian, John P. John, Odity Mukherjee, Meera Purushottam, Ramakrishnan Kannan, Bhupesh Mehta, Thennarasu Kandavel, B. Binukumar, Jitender Saini…

Investigating the epigenetic profile of the inflammatory gene IL-6 in late-life depression

It is well established that there is a link between inflammation and depression, with several studies reporting increased circulating levels of the pro-inflammatory cytokine, interleukin-6 (IL6), in depressed ind...

Authors: Joanne Ryan, Lauren Pilkington, Katharina Neuhaus, Karen Ritchie, Marie-Laure Ancelin and Richard Saffery

Genetics of depressive symptoms in adolescence

Despite many attempts to understand the genetic architecture of depression, little progress has been made. The majority of these studies, however, have been carried out in adults and do not account for the pot...

Authors: Hannah Sallis, Jonathan Evans, Robyn Wootton, Eva Krapohl, Albertine J Oldehinkel, George Davey Smith and Lavinia Paternoster

Efficacy of prospective pharmacogenetic testing in the treatment of major depressive disorder: results of a randomized, double-blind clinical trial

A 12-week, double-blind, parallel, multi-center randomized controlled trial in 316 adult patients with major depressive disorder (MDD) was conducted to evaluate the effectiveness of pharmacogenetic (PGx) testi...

Authors: Víctor Pérez, Ariana Salavert, Jordi Espadaler, Miquel Tuson, Jerónimo Saiz-Ruiz, Cristina Sáez-Navarro, Julio Bobes, Enrique Baca-García, Eduard Vieta, José M. Olivares, Roberto Rodriguez-Jimenez, José M. Villagrán, Josep Gascón, Josep Cañete-Crespillo, Montse Solé, Pilar A. Saiz…

No association between the rs10503253 polymorphism in the CSMD1 gene and schizophrenia in a Han Chinese population

Schizophrenia (SCZ) is a complex, heritable, and devastating psychiatric disorder. Recent genome-wide association studies have identified a single-nucleotide polymorphism (SNP; rs10503253) in the CUB and SUSHI...

Authors: Yansong Liu, Zaohuo Cheng, Jun Wang, Chunhui Jin, Jianmin Yuan, Guoqiang Wang, Fuquan Zhang and Xudong Zhao

Validating reference genes using minimally transformed qpcr data: findings in human cortex and outcomes in schizophrenia

It is common practice, when using quantitative real time polymerase chain reaction (qPCR), to normalise levels of mRNA to reference gene mRNA which, by definition, should not vary between tissue, with any dise...

Authors: Brian Dean, Madhara Udawela and Elizabeth Scarr

The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample

Bipolar disorder is a serious and common psychiatric disorder characterized by manic and depressive mood switches and a relapsing and remitting course. The cornerstone of clinical management is stabilization a...

Authors: Ketil J. Oedegaard, Martin Alda, Anit Anand, Ole A. Andreassen, Yokesh Balaraman, Wade H. Berrettini, Abesh Bhattacharjee, Kristen J. Brennand, Katherine E. Burdick, Joseph R. Calabrese, Cynthia V. Calkin, Ana Claasen, William H. Coryell, David Craig, Anna DeModena, Mark Frye…

Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism

Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also ...

Authors: Shan Chen, Zongchang Li, Ying He, Fengyu Zhang, Hong Li, Yanhui Liao, Zhen Wei, Guobin Wan, Xi Xiang, Maolin Hu, Kun Xia, Xiaogang Chen and Jinsong Tang

Parental care influences leukocyte telomere length with gender specificity in parents and offsprings

There have been several reports suggesting that adverse childhood experiences such as physical maltreatment and long institutionalization influence telomere length. However, there has been no study examining t...

Authors: Masanori Enokido, Akihito Suzuki, Ryoichi Sadahiro, Yoshihiko Matsumoto, Fumikazu Kuwahata, Nana Takahashi, Kaoru Goto and Koichi Otani

The relationship between glucocorticoid receptor polymorphisms, stressful life events, social support, and post-traumatic stress disorder

It is debatable whether or not glucocorticoid receptor (GR) polymorphisms moderate susceptibility to PTSD. Our objective was to examine the effects of stressful life events, social support, GR genotypes, and gene...

Authors: Yulong Lian, Jing Xiao, Qian Wang, Li Ning, Suzhen Guan, Hua Ge, Fuye Li and Jiwen Liu

Association of TPH-1 and TPH-2 gene polymorphisms with suicidal behavior: a systematic review and meta-analysis

It is widely acknowledged that suicidal behavior (SB) has a genetic influence. As a consequence, molecular genetic studies have been mostly conducted on serotonergic genes. One of the most promising candidate ...

Authors: Thelma Beatriz González-Castro, Isela Juárez-Rojop, María Lilia López-Narváez and Carlos Alfonso Tovilla-Zárate

Bias in a protocol for a meta-analysis of 5-HTTLPR, stress, and depression

Authors: Terrie E Moffitt and Avshalom Caspi

Study on genes of the serotonergic system and suicidal behavior: protocol for a case–control study in Mexican population

Suicidal behavior is a leading cause of injury and death worldwide. Several studies have provided a possible relationship between genetic factors and suicidal behavior. Also, these studies have shown evidence ...

Authors: Carlos Alfonso Tovilla-Zárate, Thelma Beatriz González-Castro, Isela Juárez-Rojop, Sherezada Pool García, Martha Patricia Velázquez-Sánchez, Mario Villar-Soto, Alma Genis, Humberto Nicolini, María Lilia López-Narváez and María Antonia Jiménez-Santos

Protocol for a collaborative meta-analysis of 5-HTTLPR, stress, and depression

Debate is ongoing about what role, if any, variation in the serotonin transporter linked polymorphic region (5-HTTLPR) plays in depression. Some studies report an interaction between 5-HTTLPR variation and str...

Authors: Robert C Culverhouse, Lucy Bowes, Naomi Breslau, John I Nurnberger Jr, Margit Burmeister, David M Fergusson, Marcus Munafò, Nancy L Saccone and Laura J Bierut

Association of the Hermansky–Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects

The Hermansky–Pudlak Syndrome Type 4 (HPS4) gene, which encodes a subunit protein of the biogenesis of lysosome-related organelles complex (BLOC)-3, which is involved in late endosomal trafficking, is associated ...

Authors: Go Kuratomi, Atsushi Saito, Yuji Ozeki, Takashi Watanabe, Kumiko Fujii, Kazutaka Shimoda, Toshihiko Inukai, Harunobu Mori, Kenichi Ohmori and Kazufumi Akiyama

Dysregulation of leukocyte gene expression in women with medication-refractory depression versus healthy non-depressed controls

Depressive Disorders (DD) are a great financial and social burden. Females display 70% higher rate of depression than males and more than 30% of these patients do not respond to conventional medications. Thus ...

Authors: Eli Iacob, Kathleen C Light, Scott C Tadler, Howard R Weeks, Andrea T White, Ronald W Hughen, Timothy A VanHaitsma, Lowry Bushnell and Alan R Light

Systematic review of genome-wide gene expression studies of bipolar disorder

Numerous genome-wide gene expression studies of bipolar disorder (BP) have been carried out. These studies are heterogeneous, underpowered and use overlapping samples. We conducted a systematic review of these...

Authors: Fayaz Seifuddin, Mehdi Pirooznia, Jennifer T Judy, Fernando S Goes, James B Potash and Peter P Zandi

Interaction between a serotonin transporter gene promoter region polymorphism and stress predicts depressive symptoms in Chinese adolescents: a multi-wave longitudinal study

The serotonin transporter (5-HTT) gene may play an important role in the onset and development of mental disorders. Past studies have tested whether a functional polymorphism in the 5-HTT gene linked promoter ...

Authors: Qing-sen Ming, Yun Zhang, Qiao-lian Chai, Hai-yan Chen, Chan-juan Hou, Meng-cheng Wang, Yu-ping Wang, Lin Cai, Xiong-zhao Zhu, Jin-yao Yi and Shu-qiao Yao

Association of the 5HTR2A gene with suicidal behavior: CASE-control study and updated meta-analysis

The polymorphism rs6313 (T102C) has been associated with suicidal behavior in case–control and meta-analysis studies, but results and conclusions remain controversial. The aim of the present study was to exami...

Authors: Thelma Beatriz González-Castro, Carlos Tovilla-Zárate, Isela Juárez-Rojop, Sherezada Pool García, Martha Patricia Velázquez-Sánchez, Alma Genis, Humberto Nicolini and Lilia López Narváez

No association between COMT val158met polymorphism and suicidal behavior: meta-analysis and new data

The polymorphism COMTval158met has been associated with suicidal behavior in case-control and meta-analysis studies, but results and conclusions remain controversial. The objective of this study was to examine...

Authors: Carlos Tovilla-Zárate, Isela Juárez-Rojop, Teresa Ramón-Frias, Mario Villar-Soto, Sherezada Pool-García, Beatriz Camarena Medellín, Alma D Genis Mendoza, Lilia López Narvaez and Nicolini Humberto