Glucocorticoid receptor gene (NR3C1) is hypermethylated in adult males with aggressive behaviour.

Aggressive behaviour is a serious threat to the personal safety and property of others due to the potential that the assailant may hurt people, himself/herself or objects, and aggression has always been one of the focuses of research and concern. Accumulating evidence suggests that the hypothalamic-pituitary-adrenal (HPA) axis plays a major role in the development, elicitation, enhancement and genetic susceptibility of aggressive behaviour in humans and animals. GR (NR3C1) plays a crucial role in controlling HPA activity, which directly affects aggressive behaviour. Here, we investigated the methylation state of the NR3C1 gene promoter region and its role in aggressive behaviour in adult males for the first time by applying a case-control approach (N = 106 controls, N = 104 patients). Methylation of NR3C1 was measured in peripheral blood samples at exons 1D, 1B and 1F via sodium bisulfite treatment combined with the MethylTarget method. Methylation of the NR3C1 gene was significantly correlated with aggressive behaviour, and the methylation levels of 1D, 1B and 1F were upregulated in the aggressive behaviour group, intentional injury subgroup and robbery subgroup, and the significance varied. In addition, multiple CpG sites were found to be significantly associated with aggressive behaviour. These results suggest that epigenetic aberrations of NR3C1 are associated with aggressive behaviour, and epigenetic processes might mediate aggressive behaviour by affecting the activity of the HPA axis. This correlative study between DNA methylation of the NR3C1 gene and aggressive behaviour in patients may be helpful for forensic assessments.

Retraction "Methylation of the MAOA promoter is associated with schizophrenia".

[This retracts the article DOI: 10.21037/atm-20-4481.].

Methylation of the MAOA promoter is associated with schizophrenia.

BACKGROUND: Earlier studies have shown that patients with schizophrenia have abnormalities in DNA methylation. Monoamine oxidase A (MAOA) has been extensively studied due to its biological role in neurological function. However, the relationship between the DNA methylation of the MAOA gene and schizophrenia is unclear. This study aims to elucidate the relationship between the methylation of the MAOA gene promoter and schizophrenia. METHODS: There were 151 individuals with schizophrenia (104 males and 47 females), which were diagnosed according to DSM-V, the DNA of peripheral blood of all samples was extracted and chemically modified with bisulfite. The promoter region of MAOA gene was sequenced by Methylation Target Technical Method (MethylTargetTM), and 247 controls (204 males and 43 females) included in the study. MAOA gene promoter methylation was compared between the case and control groups. Meanwhile, we measured DNA methylation in two regions of MAOA (MAOA-2 and MAOA-3). RESULTS: In the male schizophrenia group (BM) and the male control group (DM), MAOA-2 and MAOA-3 methylation were positively associated with schizophrenia. In the female schizophrenia group (BF) and the female control group (DF), MAOA-2 methylation was associated with schizophrenia. CONCLUSIONS: Although the role of gene methylation in the development of schizophrenia is still unclear, our findings suggest that DNA methylation of MAOA may contribute to the onset of schizophrenia.

DNA Methylation Analysis of the NR3C1 Gene in Patients with Schizophrenia.

Schizophrenia is a heterogeneous mental disorder caused by genetic and environmental factors, and epigenetic mechanisms play a vital role in its pathogenesis. Evidence suggests that some psychiatric disorders are linked to methylation of the glucocorticoid receptor gene NR3C1, a key regulator of the hypothalamic-pituitary-adrenal (HPA) axis. However, the contribution of NR3C1 methylation to schizophrenia has not yet been investigated. By applying a case-control approach (N = 128 controls, N = 80 patients), we for the first time examined the methylation state of the NR3C1 gene promoter region and its role in schizophrenia. Using peripheral blood samples, NR3C1 methylation in exons 1D, 1B, 1F, and 1H was assessed via sodium bisulfite treatment combined with the MethylTarget method. NR3C1 methylation at exon 1B was positively associated with schizophrenia in females but not in males. Nonetheless, specific CpG sites in exon 1D, 1B, 1H, and 1F regions were found to be associated with schizophrenia, usually with sex specificity. These results suggest that epigenetic aberrations of NR3C1 are associated with the pathophysiology of schizophrenia, and epigenetic processes possibly mediate psychopathology through effects on HPA axis activity. Correlation analysis between NR3C1 gene methylation and schizophrenia may be helpful for the assessment of forensic psychiatry.

Population data of 23 autosomal STR loci in the Chinese Han population from Guangdong Province in southern China.

The genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci included in the HuaxiaTM Platinum kit were evaluated in 1533 unrelated healthy Guangdong Han individuals living in the Guangdong Province in southern China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine the allele frequencies and forensic statistical parameters. The genetic relationship between the Guangdong Han and other Chinese populations was also estimated. The combined discrimination power and the probability of excluding the paternity of 23 STR loci were 0.999 999 999 999 999 999 999 999 999 74 and 0.999 999 999 72, respectively. These results suggested that the 23 STR loci are highly polymorphic and suitable for personal forensic identification and paternity testing.

Revealing genetic diversity of tree peonies at micro-evolution level with hyper-variable chloroplast markers and floral traits.

KEY MESSAGE: Highly variable regions of chloroplast genome were found to be useful in the detection of plant genetic diversity at micro-evolution level. Our methodology will improve understanding and conservation of plant diversity. Tree peonies are famous flowers with about 2,000 cultivars in the world, belonging to Paeonia sect. Moutan of the Paeoniaceae. They are traditionally classified based on flower forms and colors. Due to the limited number of DNA and morphological markers, and the existence of synonyms and homonyms, evaluation on genetic diversity of so many cultivars remains a challenge. In most cases, it is difficult and even impossible to discriminate tree peony cultivars when they are not in flower. In this study, single nucleotide polymorphism detected from the hyper-variable regions of chloroplast genome was employed to separate tree peony cultivars into different maternal lineages which can be expressed briefly by a nucleotide molecular formula. Our approach enabled a much higher resolution of cultivar identification and classification that has not been obtained before. The newly developed hyper-variable chloroplast markers, as an independent source of taxonomic characteristics, provided novel evidences and higher resolution ability that are helpful in building an effective classification system for evaluation, conservation, and utilization of the tree peony germplasm resources at cultivar level.

Chemical taxonomy of the Xibei tree peony from China by floral pigmentation.

Petal flavonoid compositions of 39 tree peony cultivars from Xibei (northwest China) were investigated in order to study the chemotaxonomic relationship among tree peony species. Six anthocyanins, the 3- O-glucosides and 3,5-di- O-glucosides of three anthocyanidins-pelargonidin (Pg), cyanidin (Cy), and peonidin (Pn)-exist in petals without a blotch at the base. The flowers are classified into three anthocyanidin phenotypes: 'Pn, Pg>Cy'; 'Pn, Cy'; and 'Pn, Cy>Pg'. Furthermore, the yellow pigments are identified as three flavones and three flavonols: apigenin, luteolin, chrysoeriol, and kaempferol, quercetin, and isorhamnetin, respectively. Ward's minimum-variance cluster analysis with principal component analysis produced a dendrogram using standardized scores of 20 pigment variables. Of 39 cultivars, 11 clustered with white flowered Paeonia rockii and 17 with pink flowered P. rockii. The other 11 cultivars matched either P. delavayi or P. potaninii. The result suggests that the Xibei tree peony originated mainly from P. rockii.