Genetic polymorphisms and their association with neurobiological and psychological factors in anorexia nervosa: a systematic review.

Background and aims: Anorexia nervosa (AN) is a complex neuropsychiatric disorder. This systematic review synthesizes evidence from diverse studies to assess and investigate the association between gene polymorphisms and psychological and neurobiological factors in patients with AN. Methods: A systematic search across PubMed, PsycINFO, Scopus, and Web of Science databases, along with manual searching, was conducted. The review protocol was approved by PROSPERO (CRD42023452548). Out of 1,250 articles, 11 met the inclusion criteria. The quality of eligible articles was assessed using the Newcastle-Ottawa Scale (NOS) tool. The systematic review followed the PRISMA guidelines. Results: The serotoninergic system, particularly the 5-HTTLPR polymorphism, is consistently linked to altered connectivity in the ventral attention network, impaired inhibitory control, and increased susceptibility to AN. The 5-HTTLPR polymorphism affects reward processing, motivation, reasoning, working memory, inhibition, and outcome prediction in patients with AN. The dopaminergic system, involving genes like COMT, DRD2, DRD3, and DAT1, regulates reward, motivation, and decision-making. Genetic variations in these dopaminergic genes are associated with psychological manifestations and clinical severity in patients with AN. Across populations, the Val66Met polymorphism in the BDNF gene influences personality traits, eating behaviors, and emotional responses. Genes like OXTR, TFAP2B, and KCTD15 are linked to social cognition, emotional processing, body image concerns, and personality dimensions in patients with AN. Conclusion: There was an association linking multiple genes to the susceptibly and/or severity of AN. This genetic factor contributes to the complexity of AN and leads to higher diversity of its clinical presentation. Therefore, conducting more extensive research to elucidate the underlying mechanisms of anorexia nervosa pathology is imperative for advancing our understanding and potentially developing targeted therapeutic interventions for the disorder.Systematic review registration: [https://clinicaltrials.gov/], identifier [CRD42023452548].

The Interaction Between Body Mass Index Genetic Risk Score and Dietary Intake on Weight Status: A Systematic Review.

Background: The escalating global obesity epidemic and the emergence of personalized medicine strategies point to the pressing need to investigate the interplay between genetic risk scores (GRSs), dietary intake, and their combined impact on weight status. This systematic review synthesizes evidence from diverse studies to elucidate how dietary patterns and individual foods interact with genetic predisposition to obesity. Methods: Literature searches were conducted in the PubMed, Embase, Science Direct, and Scopus databases until August 2023, following PRISMA guidelines. Out of 575 articles, 15 articles examining the interaction between genetic risk score for body mass index and dietary intake on weight outcomes met the inclusion criteria. All included studies were cross-sectional in design and were assessed for quality using the Newcastle‒Ottawa Scale. Results: Unhealthy dietary intake exacerbated the genetic predisposition to obesity, evident in studies assessing Western diet, sulfur microbial diet, and individual macronutrients, including saturated fatty acids, sugar-sweetened beverages and fried foods. Conversely, adhering to healthier dietary intake mitigated the genetic predisposition to obesity, as observed in studies involving Alternative Healthy Eating Index, Alternative Mediterranean Diet, Dietary Approach to Stop Hypertension scores, healthy plant-based diets, and specific foods such as fruits, vegetables, and n-3 polyunsaturated fatty acids. Conclusion: This is the first systematic review to explore the interaction between genetics and dietary intake in shaping obesity outcomes. The findings have implications for tailored interventions; however, more controlled clinical trials with robust designs are needed to be able to recommend personalized nutrition based on nutrition for obesity prevention and management.

Association of Vitamin D Genetic Risk Score with Noncommunicable Diseases: A Systematic Review.

Background and Aims: The genetic risk score (GRS) is an important tool for estimating the total genetic contribution or susceptibility to a certain outcome of interest in an individual, taking into account their genetic risk alleles. This study aims to systematically review the association between the GRS of low vitamin D with different noncommunicable diseases/markers. Methods: The article was first registered in PROSPERO CRD42023406929. PubMed and Embase were searched from the time of inception until March 2023 to capture all the literature related to the vitamin D genetic risk score (vD-GRS) in association with noncommunicable diseases. This was performed using comprehensive search terms including "Genetic Risk Score" OR "Genetics risk assessment" OR "Genome-wide risk score" AND "Vitamin D" OR 25(HO)D OR "25-hydroxyvitamin D". Results: Eleven eligible studies were included in this study. Three studies reported a significant association between vD-GRS and metabolic parameters, including body fat percentage, body mass index, glycated hemoglobin, and fasting blood glucose. Moreover, colorectal cancer overall mortality and the risk of developing arterial fibrillation were also found to be associated with genetically deprived vitamin D levels. Conclusions: This systematic review highlights the genetic contribution of low-vitamin-D-risk single nucleotides polymorphisms (SNPs) as an accumulative factor associated with different non-communicable diseases/markers, including cancer mortality and the risk of developing obesity, type 2 diabetes, and cardiovascular diseases such as arterial fibrillation.

Analysis of signaling cascades from myeloma cells treated with pristimerin.

Multiple myeloma (MM) is the 2nd most frequently diagnosed blood cancer after non-Hodgkin's lymphoma. The present study aimed to identify the differentially expressed genes (DEGs) between the control and pristimerin-treated MM cell lines. We examined the GSE14011 microarray dataset and screened DEGs with GEO2R statistical tool using the inbuilt limma package. We used a bioinformatics pipeline to identify the differential networks, signaling cascades, and the survival of the hub genes. We implemented two different enrichment analysis including ClueGO and Metacore™, to get accurate annotation for most significant DEGs. We screened the most significant 408 DEGs from the dataset based on p-values and logFC values. Using protein network analysis, we found the genes UBC, HSP90AB1, HSPH1, HSPA1B, HSPA1L, HSPA6, HSPD1, DNAJB1, HSPE1, DNAJC10, BAG3, and DNAJC7 had higher node degree distribution. In contrast, the functional annotation provided that the DEGs were predominantly enriched in B-cell receptor signaling, unfolded protein response, positive regulation of phagocytosis, HSP70, and HSP40-dependent folding, and ubiquitin-proteasomal proteolysis. Using network algorithms, and comparing enrichment analysis, we found the hub genes enriched were INHBE, UBC, HSPA1A, HSP90AB1, IKBKB, and BAG3. These DEGs were further validated with overall survival and gene expression analysis between the tumor and control groups. Finally, pristimerin effects were validated independently in a cell line model consisting of IM9 and U266 MM cells. Pristimerin induced in vitro cytotoxicity in MM cells in a dose-dependent manner. Pristimerin inhibited NF-κB, induced accumulation of ubiquitinated proteins and inhibited HSP60 in the validation of bioinformatics findings, while pristimerin-induced caspase-3 and PARP cleavage confirmed cell death. Taken together, we found that the identified DEGs were strongly associated with the apoptosis induced in MM cell lines due to pristimerin treatment, and combinatorial therapy derived from pristimerin could act as novel anti-myeloma multifunctional agents.

Non-coding RNAs as biomarkers of myocardial infarction.

Non-coding RNAs (ncRNAs) encompass a family of ubiquitous RNA molecules that lack protein-coding potential and have tissue-specific expression. A significant body of evidence indicates that ncRNA's aberrant expression plays a critical role in disease onset and development. NcRNAs' biochemical characteristics such as disease-associated concentration changes, structural stability, and high abundance in body fluids make them promising prognostic and diagnostic biomarkers. Myocardial infarction (MI) is a leading cause of mortality worldwide. Acute myocardial infarction (AMI), the term in use to describe MI's early phase, is generally diagnosed by physical examination, electrocardiogram (ECG), and the presence of specific biomarkers. In this regard, compared to standard MI biomarkers, such as the cardiac troponin isoforms (cTnT & cTnI) and the Creatinine Kinase (CK), ncRNAs appears to provide better sensitivity and specificity, ensuring a rapid and correct diagnosis, an earlier treatment, and consequently a good prognosis for the patients. This review aims to summarize and discuss the most promising and recent data on the potential clinical use of circulating ncRNAs as MI biomarkers. Specifically, we focused primarily on miRNAs and lncRNAs, highlighting their significant specificity and sensitivity, discussing their limitations, and suggesting possible overcoming approaches.