Alexithymia is associated with reduced vitamin D levels, but not polymorphisms of the vitamin D binding-protein gene
Objective Alexithymia is a personality trait characterized by difficulties in identifying and describing emotions, which is associated with various psychiatric disorders, including depression and posttraumatic stress disorder (PTSD). Its pathogenesis is incompletely understood but previous studies suggested that genetic as well as metabolic factors, are involved. However, no results on the role of vitamin D and the polymorphisms rs4588 and rs7041 of the vitamin D binding protein (VDBP) have been published so far. Methods Serum levels of total 25(OH)D were measured in two general-population samples (total n = 573...
Source: Psychiatric Genetics - July 16, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Nucks1 gene polymorphism rs823114 is associated with the positive symptoms and neurocognitive function of patients with schizophrenia in parts of southern China
Nuclear casein kinase and cyclin-dependent kinase substrate 1 (nucks1) are considered a potential susceptibility gene for certain neurological diseases, such as Parkinson’s disease (PD). In our study, we genotyped three single nucleotide polymorphisms (SNPs) (rs4951261, rs823114 and rs951366) of the nucks1 gene in 774 schizophrenic patients and 819 healthy controls using the improved multiplex ligation detection reaction (imLDR) technique. Furthermore, we also studied the relationship between the above SNPs and the clinical psychiatric symptoms and neurocognitive function of the patients. Genotype distributions and allel...
Source: Psychiatric Genetics - July 16, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Psychosis symptoms associated with Niemann-Pick disease type C
Niemann-Pick disease type C (NP-C) is a severe neurovisceral lipid storage disease that results in the accumulation of unesterified cholesterol in lysosomes or endosomes. The clinical presentations of NP-C are variable which include visceral symptoms, neurologic symptoms and psychiatric symptoms. Psychosis is the most common psychiatric manifestation of NP-C and is indistinguishable from a typical psychosis presentation of schizophrenia. The common psychotic presentations in NP-C include visual hallucinations, delusions, auditory hallucinations and thought disorders. Psychosis symptoms are more common in adult or adolescen...
Source: Psychiatric Genetics - July 16, 2021 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

Re-analysis of genetic polymorphism data supports a relationship between schizophrenia and microsatellite variability in PLA2G4A
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 19, 2021 Category: Genetics & Stem Cells Tags: Letters to the Editor Source Type: research

Pathophysiology and management of neuropsychiatric symptoms in succinic semialdehyde dehydrogenase deficiency
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 19, 2021 Category: Genetics & Stem Cells Tags: Letters to the Editor Source Type: research

Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
The proband in this study was a 16-year-old Mexican girl with psychotic and dyskinetic symptoms, and brain MRI showed at the basal ganglia the ‘eye-of-the-tiger’ sign. DNA direct sequencing identified a novel compound heterozygous mutation in the PANK2 gene. The diagnosis of pantothenate kinase-associated neurodegeneration (PKAN) disorder was made. This novel change increases the pool of PANK2 mutations. It supports the published data suggesting that PANK2 plays a significant role in patients expressing psychiatric phenotypes in the PKAN syndrome. When a patient presents with dyskinesia and psychiatric symptoms, PANK2 ...
Source: Psychiatric Genetics - May 19, 2021 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

The OPRD1 rs678849 variant influences outcome of disulfiram treatment for cocaine dependency in methadone-maintained patients
We examined whether this variant moderated cocaine and opioid use in our clinical cohort of methadone and disulfiram treated recipients. Methods Cocaine and opioid codependent patients were stabilized for 2 weeks on methadone and subsequently randomized into groups treated with either methadone + placebo (n = 37) or methadone + disulfiram (250 mg/day; n = 33) for 12 weeks. Results A drop in cocaine-positive urine was found in the OPRD1 CC genotype group compared to T-allele carrier patients treated with methadone + disulfiram (P  (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 19, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Copy number variations in Japanese children with autism spectrum disorder
Conclusions Four CNVs: microdeletion at 12p11.1, microduplications at 4q13.2, 8p23.1 and 18q12.3 were detected as ASD-related CNVs in Japanese children in this study. Although these CNVs were consistent with several reports by Western countries at cytoband levels, these did not consistent at detailed genomic positions and sizes. Our data indicate the possibility that these CNVs are characteristic of Japanese children with ASD. We conclude that Japanese individuals with ASD may harbor CNVs different from those of Western individuals with ASD. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 19, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

The functional polymorphisms linked with interleukin-1β gene expression are associated with bipolar disorder
Conclusion Our results support the contention that IL-1β is likely a risk gene for BD, and further investigations on this gene may promote our understanding and clinical management of this illness. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - April 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Global DNA methylation in suicidal ideation and suicide attempt in schizophrenia
This study investigated global methylation level/change in association with current and emergent suicidal ideation and also with suicide attempt. Forty-seven schizophrenia patients were assessed for the association between global methylation and suicide attempt, and a subsample of these patients (n = 27) was assessed for current suicidal ideation. Afterwards, we performed a longitudinal analysis in which global methylation changes during a 3-month follow-up were compared between patients with and without emergent suicidal ideation. This methylation analysis did not find evidence for a significant association between global...
Source: Psychiatric Genetics - April 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Genetic neuroimaging of bipolar disorder: a systematic 2017–2020 update
There is evidence of genetic polymorphism influences on brain structure and function, genetic risk in bipolar disorder (BD), and neuroimaging correlates of BD. How genetic influences related to BD could be reflected on brain changes in BD has been efficiently reviewed in a 2017 systematic review. We aimed to confirm and extend these findings through a Preferred Reporting Items for Systematic reviews and Meta-Analyses-based systematic review. Our study allowed us to conclude that there is no replicated finding in the timeframe considered. We were also unable to further confirm prior results of the BDNF gene polymorphisms to...
Source: Psychiatric Genetics - April 1, 2021 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

Understanding the role of gut microbiota in the pathogenesis of schizophrenia
Schizophrenia is a chronic mental disorder with marked symptoms of hallucination, delusion, and impaired cognitive behaviors. Although multidimensional factors have been associated with the development of schizophrenia, the principal cause of the disorder remains debatable. Microbiome involvement in the etiology of schizophrenia has been widely researched due to the advancement in sequencing technologies. This review describes the contribution of the gut microbiome in the development of schizophrenia that is facilitated by the gut-brain axis. The gut microbiota is connected to the gut-brain axis via several pathways and me...
Source: Psychiatric Genetics - April 1, 2021 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

Sex-specific association of MC2R polymorphisms and the risk of major depressive disorder in Chinese Southern Han
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 27, 2021 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research

Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity
SLC13A5/NaCT is a sodium-coupled citrate transporter expressed in the plasma membrane of the liver, testis, and brain. In these tissues, SLC13A5 has important functions in the synthesis of fatty acids, cholesterol, and neurotransmitters. In recent years, patients homozygous for recessive mutations in SLC13A5, known as SLC13A5 deficiency [early infantile epileptic encephalopathy-25 (EIEE-25)], exhibit severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting tooth development. Although the pathogenesis of SLC13A5 deficiency remains not clearly understood, cytoplas...
Source: Psychiatric Genetics - January 27, 2021 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Genetic association study detected misalignment in previous whole exome sequence: association study of ZNF806 and SART3 in tardive dystonia
In conclusion, ZNF806 and SART3 are unlikely to be related to tardive dystonia. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 27, 2021 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research