Case-Control Studies

Publication Title: 
PloS One

BACKGROUND: Research suggests that the COMT Val(158)Met, BDNF Val(66)Met and OPRM1 A(118)G polymorphisms moderate the experience of pain. In order to obtain experimental confirmation and extension of findings, cortical processing of experimentally-induced pain was used. METHOD: A sample of 78 individuals with chronic low back pain complaints and 37 healthy controls underwent EEG registration. Event-Related Potentials were measured in response to electrical nociceptive stimuli and moderation by COMT Val(158)Met, BDNF Val(66)Met and OPRM1 A(118)G polymorphisms was assessed.

Vossen, Helen
Kenis, Gunter
Rutten, Bart
van Os, Jim
Hermens, Hermie
Lousberg, Richel
Publication Title: 
Translational Psychiatry

Bipolar disorder (BD) is a severe mental disorder characterized by recurrent episodes of mania and depression. Serotonin transporter (HTT) is a target of antidepressants and is one of the strongest candidate molecules of mood disorder, however, genetic study showed equivocal results. Here, we performed promoter-wide DNA methylation analysis of lymphoblastoid cell lines (LCLs) derived from two pairs of monozygotic twins discordant for BD.

Sugawara, H.
Iwamoto, K.
Bundo, M.
Ueda, J.
Miyauchi, T.
Komori, A.
Kazuno, A.
Adati, N.
Kusumi, I.
Okazaki, Y.
Ishigooka, J.
Kojima, T.
Kato, T.
Publication Title: 
PloS One

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease.

Tang, Clara Sze-Man
Tang, Wai-Kiu
So, Man-Ting
Miao, Xiao-Ping
Leung, Brian Man-Chun
Yip, Benjamin Hon-Kei
Leon, Thomas Yuk-Yu
Ngan, Elly Sau-Wai
Lui, Vincent Chi-Hang
Chen, Yan
Chan, Ivy Hau-Yee
Chung, Patrick Ho-Yu
Liu, Xue-Lai
Wu, Xuan-Zhao
Wong, Kenneth Kak-Yuen
Sham, Pak-Chung
Cherny, Stacey S.
Tam, Paul Kwong-Hang
Garcia-BarcelÛ, Maria-MercË
Publication Title: 
Molecular Psychiatry

Epigenetic studies of DNA and histone modifications represent a new and important activity in molecular investigations of human disease. Our previous epigenome-wide scan identified numerous DNA methylation differences in post-mortem brain samples from individuals affected with major psychosis. In this article, we present the results of fine mapping DNA methylation differences at the human leukocyte antigen (HLA) complex group 9 gene (HCG9) in bipolar disorder (BPD).

Kaminsky, Z.
Tochigi, M.
Jia, P.
Pal, M.
Mill, J.
Kwan, A.
Ioshikhes, I.
Vincent, J. B.
Kennedy, J. L.
Strauss, J.
Pai, S.
Wang, S.-C.
Petronis, A.
Publication Title: 
Molecular Psychiatry

MicroRNAs (miRNAs) regulate gene expression at the post-transcriptional level and are important for coordinating nervous system development and neuronal function in the mature brain. We have recently identified schizophrenia-associated alteration of cortical miRNA biogenesis and expression in post-mortem brain tissue with implications for the dysregulation of schizophrenia candidate genes. Although these changes were observed in the central nervous system, it is plausible that schizophrenia-associated miRNA expression signatures may also be detected in non-neural tissue.

Gardiner, E.
Beveridge, N. J.
Wu, J. Q.
Carr, V.
Scott, R. J.
Tooney, P. A.
Cairns, M. J.
Publication Title: 
Journal of Psychiatric Research

The failure in the discovery of etiology of psychiatric diseases, despite extensive genetic studies, has directed the attention of neuroscientists to the contribution of epigenetic modulations, which play important roles in fine-tuning of gene expression in response to environmental factors.

Nohesara, Shabnam
Ghadirivasfi, Mohammad
Mostafavi, Sahar
Eskandari, Mohammad-Reza
Ahmadkhaniha, Hamidreza
Thiagalingam, Sam
Abdolmaleky, Hamid Mostafavi
Publication Title: 
PloS One

Major depression, because of its recurring and life-threatening nature, is one of the top 10 diseases for global disease burden. Major depression is still diagnosed on the basis of clinical symptoms in patients. The search for specific biological markers is of great importance to advance the method of diagnosis for depression. We examined the methylation profile of 2 CpG islands (I and IV) at the promoters of the brain-derived neurotrophic factor (BDNF) gene, which is well known to be involved in the pathophysiology of depression.

Fuchikami, Manabu
Morinobu, Shigeru
Segawa, Masahiro
Okamoto, Yasumasa
Yamawaki, Shigeto
Ozaki, Norio
Inoue, Takeshi
Kusumi, Ichiro
Koyama, Tsukasa
Tsuchiyama, Kounosuke
Terao, Takeshi
Publication Title: 
Journal of Opioid Management

OBJECTIVE: The OPRM1 gene was studied for DNA methylation in opioid dependence and possible paternal contribution to epigenetic inheritance of altered methylation profiles. PARTICIPANTS AND METHODS: DNA was extracted from blood and sperm from 13 male opioid addicts and 21 male control subjects. DNA methylation was determined by pyrosequencing in 24 CpG sites at the OPRM1 promoter region. RESULTS: The authors found significantly increased overall methylation in blood DNA from addicted subjects (Kruskal-Wallis [K-W] p = 0.013).

Chorbov, Vesselin M.
Todorov, Alexandre A.
Lynskey, Michael T.
Cicero, Theodore J.
Publication Title: 
Archives of General Psychiatry

CONTEXT: Neuronal dysfunction in cerebral cortex and other brain regions could contribute to the cognitive and behavioral defects in autism. OBJECTIVE: To characterize epigenetic signatures of autism in prefrontal cortex neurons. DESIGN: We performed fluorescence-activated sorting and separation of neuronal and nonneuronal nuclei from postmortem prefrontal cortex, digested the chromatin with micrococcal nuclease, and deeply sequenced the DNA from the mononucleosomes with trimethylated H3K4 (H3K4me3), a histone mark associated with transcriptional regulation.

Shulha, Hennady P.
Cheung, Iris
Whittle, Catheryne
Wang, Jie
Virgil, Daniel
Lin, Cong L.
Guo, Yin
Lessard, Andree
Akbarian, Schahram
Weng, Zhiping
Publication Title: 

To determine if ethanol consumption and alcoholism cause global DNA methylation disturbances, we examined alcoholics and controls using methylation specific microarrays to detect all annotated gene and non-coding microRNA promoters and their CpG islands. DNA was isolated and immunoprecipitated from the frontal cortex of 10 alcoholics and 10 age and gender-matched controls then labeled prior to co-hybridization. A modified Kolmogorov-Smirnov test was used to predict differentially enriched regions (peaks) from log-ratio estimates of amplified vs input DNA.

Manzardo, A. M.
Henkhaus, R. S.
Butler, M. G.


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