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Psychiatric molecular genetics

This section focuses on the role of molecular genetics in psychiatry. Topics of interest include, but are not limited to, gene-environment interaction in psychiatric disorders, pharmacogenetics, linkage, association studies, cognitive endophenotypes, epigenetics, gene expression and genome-wide association studies.

  1. Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short st...

    Authors: Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE and Caroline DEMILY

    Citation: BMC Psychiatry 2021 21:360

    Content type: Case report

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  2. Cognitive functions represent useful endophenotypes to identify the association between genetic variants and schizophrenia. In this sense, the NR4A2 gene has been implicated in schizophrenia and cognition in diff...

    Authors: Elizabeth Ruiz-Sánchez, Janet Jiménez-Genchi, Yessica M. Alcántara-Flores, Carlos J. Castañeda-González, Carlos L. Aviña-Cervantes, Petra Yescas, María del Socorro González-Valadez, Nancy Martínez-Rodríguez, Antonio Ríos-Ortiz, Martha González-González, María E. López-Navarro and Patricia Rojas

    Citation: BMC Psychiatry 2021 21:86

    Content type: Research article

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  3. This study aimed to investigate the influence of CYP2D6 polymorphisms on risperidone plasma concentrations in patients with schizophrenia. Based on pharmacogenomics, we examined whether plasma concentration of ri...

    Authors: Jinjun Lu, Ye Yang, Jian Lu, Zuqing Wang, Yiping He, Yeliang Yan, Kai Fu, Wenjuan Jiang, Yunqing Xu, Renrong Wu, Wenqing Liu and Jingping Zhao

    Citation: BMC Psychiatry 2021 21:70

    Content type: Research article

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  4. 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

    Citation: BMC Psychiatry 2020 20:499

    Content type: Research article

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  5. 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

    Citation: BMC Psychiatry 2020 20:388

    Content type: Research article

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  6. 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

    Citation: BMC Psychiatry 2020 20:363

    Content type: Research article

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  7. 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

    Citation: BMC Psychiatry 2020 20:264

    Content type: Research article

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    The Correction to this article has been published in BMC Psychiatry 2020 20:330

  8. 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

    Citation: BMC Psychiatry 2020 20:184

    Content type: Case report

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  9. 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

    Citation: BMC Psychiatry 2020 20:135

    Content type: Research article

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  10. 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

    Citation: BMC Psychiatry 2020 20:92

    Content type: Research article

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  11. 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

    Citation: BMC Psychiatry 2020 20:1

    Content type: Research article

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  12. 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

    Citation: BMC Psychiatry 2019 19:405

    Content type: Research article

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  13. 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

    Citation: BMC Psychiatry 2019 19:402

    Content type: Research article

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  14. 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

    Citation: BMC Psychiatry 2019 19:281

    Content type: Research article

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  15. 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

    Citation: BMC Psychiatry 2019 19:159

    Content type: Research article

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  16. 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

    Citation: BMC Psychiatry 2019 19:113

    Content type: Research article

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  17. 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

    Citation: BMC Psychiatry 2019 19:62

    Content type: Research article

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  18. 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

    Citation: BMC Psychiatry 2018 18:396

    Content type: Research article

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  19. 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

    Citation: BMC Psychiatry 2018 18:369

    Content type: Study protocol

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  20. 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

    Citation: BMC Psychiatry 2018 18:303

    Content type: Research article

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  21. 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

    Citation: BMC Psychiatry 2018 18:283

    Content type: Research article

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  22. 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…

    Citation: BMC Psychiatry 2018 18:249

    Content type: Research article

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  23. 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

    Citation: BMC Psychiatry 2018 18:248

    Content type: Case report

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  24. 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

    Citation: BMC Psychiatry 2018 18:183

    Content type: Study protocol

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  25. 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

    Citation: BMC Psychiatry 2018 18:175

    Content type: Research article

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  26. 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

    Citation: BMC Psychiatry 2018 18:154

    Content type: Research article

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  27. 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…

    Citation: BMC Psychiatry 2018 18:106

    Content type: Study protocol

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  28. 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

    Citation: BMC Psychiatry 2017 17:354

    Content type: Research article

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  29. 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

    Citation: BMC Psychiatry 2017 17:321

    Content type: Research article

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  30. 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…

    Citation: BMC Psychiatry 2017 17:250

    Content type: Research article

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  31. 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

    Citation: BMC Psychiatry 2016 16:206

    Content type: Research article

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  32. 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

    Citation: BMC Psychiatry 2016 16:154

    Content type: Research article

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  33. 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…

    Citation: BMC Psychiatry 2016 16:129

    Content type: Study protocol

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  34. 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

    Citation: BMC Psychiatry 2015 15:50

    Content type: Research article

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  35. 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

    Citation: BMC Psychiatry 2014 14:277

    Content type: Research article

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  36. 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

    Citation: BMC Psychiatry 2014 14:232

    Content type: Research article

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  37. 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

    Citation: BMC Psychiatry 2014 14:196

    Content type: Research article

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  39. 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

    Citation: BMC Psychiatry 2014 14:29

    Content type: Study protocol

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  40. 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

    Citation: BMC Psychiatry 2013 13:304

    Content type: Study protocol

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  41. 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

    Citation: BMC Psychiatry 2013 13:276

    Content type: Research article

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  42. 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

    Citation: BMC Psychiatry 2013 13:273

    Content type: Research article

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  43. 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

    Citation: BMC Psychiatry 2013 13:213

    Content type: Research article

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  44. 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

    Citation: BMC Psychiatry 2013 13:142

    Content type: Research article

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  45. 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

    Citation: BMC Psychiatry 2013 13:25

    Content type: Research article

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  46. 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

    Citation: BMC Psychiatry 2011 11:151

    Content type: Research article

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