Caffeine is one of the most consumed psychoactive substances globally. Caffeine-gene interactions in Parkinson’s disease (PD) has not been systematically examined.
To conduct a systematic review on ...the interaction between caffeine consumption and genetic susceptibility to PD.
We conducted PubMed and Embase search using terms “Genetic association studies”, “Caffeine”, “polymorphism” and “Parkinson’s disease”, from inception till 2023. Of the initial 2391 studies, 21 case-control studies were included. The demographic, genetic and clinical data were extracted and analyzed.
We identified 21 studies which involved a total of 607,074 study subjects and 17 gene loci (SNCA, MAPT, HLA-DRA, NOS1, NOS3, GBA, ApoE, BST1, ESR2, NAT2, SLC2A13, LRRK2, NOS2A, GRIN2A, CYP1A2, ESR1, ADORA2A) have been investigated for the effect of gene-caffeine interaction and PD risk. The genes were identified through PD GWAS or involved in caffeine or related metabolism pathways. Based on the genetic association and interaction studies, only MAPT, SLC2A13, LRRK2, ApoE, NOS2A, GRIN2A, CYP1A2, and ADORA2A have been shown by at least one study to have a positive caffeine-gene interaction influencing the risk of PD.
Studies have shown an interaction between caffeine with genetic variants of MAPT, SLC2A13, LRRK2, ApoE, NOS2A, GRIN2A, CYP1A2, and ADORA2A in modulating the risk of PD. Due to the potential limitations of these discovery/pilot studies, further independent replication studies are needed. Better designed genetic association studies in multi-ancestry and admixed cohorts to identify potential shared or unique multivariate gene-environmental interactions, as well as functional studies of gene-caffeine interactions will be useful.
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•Caffeine is one of the most consumed psychoactive substances globally.•Caffeine is an antagonist of adenosine A2A receptor and caffeine consumption can be protective against PD.•Results from 21 studies involving 607,074 human subjects and 17 gene loci are investigated to understand the interplay of caffeine and genetic factors in PD risk.•Eight genes, including MAPT, SLC2A13, LRRK2, ApoE, NOS2A, GRIN2A, CYP1A2, and ADORA2A, are identified to have a positive caffeine-gene interaction to influence PD risk.
This study aimed to investigate the correlation between genetic factors and the occurrence and progression of temporomandibular disorders (TMDs) using a comprehensive review and meta-analysis.
A ...comprehensive search was conducted using the ScienceDirect, PubMed, Cochrane Library, Dimensions, and Emerald databases. A reviewer selected the study using modified PICO criteria, considering human subjects with TMDs, comparing different genetic factors among TMD and non-TMD patients, and reporting TMD signs and symptoms as outcomes. The methodological standards of the eligible papers were assessed using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist for Non-randomized Experimental Investigations. Information was collected methodically and examined.
The electronic database search yielded 851 articles, 19 of which were included in this study. The data analysis showed a significant influence of genetic factors, such as polymorphisms and gene differences, on the development of TMD signs and symptoms, such as myofascial pain, chronic pain, and disc displacement. In addition, gene polymorphism significantly influenced TMD development, with an odds ratio of 2.46 (1.93–3.14) and p of 0.00001.
Genetic factors significantly influenced TMD signs and symptoms, and genetic polymorphisms significantly influenced TMD onset and progression. Further research should be conducted in diverse settings with larger sample sizes to verify and validate these findings.
•Hereditary factors correlate with TMD signs.•Genetic polymorphisms influence TMD onset and progression.•Results provide insights into the genetic role in TMD.
Data on 10148 Black Bengal kids recorded from 2008 to 2019 and maintained at farmer’s fields at different agroclimatic clusters of West Bengal under the project “AICRP on Goat Improvement, Black ...Bengal Field Unit- Kolkata” were used to study the effect of non-genetic factors on body weight from birth to 12 months of age. The data were analysed using least squares analysis technique. The average birth weights of Black Bengal goats obtained under four different agro-climatic clusters revealed that there was a significant variation in body weight (kg) of all ages. The effect of year of kidding, influence of season and parity of the dam on body weight of Black Bengal kids at different ages were significant. But a non-significant result was found at the body weight in all the seasons as well as in all the parities at 9 and 12 months of age. Sex of the kid and type of birth had significant effect on body weights from birth to 12 months of age. Significantly higher body weight at birth was recorded in single born kid, followed by twin and triplets. The study concluded that it is possible to improve non-genetic elements in the field, particularly by providing excellent housing, reducing stress, having access to grazing pasture, and doing routine deworming and vaccinations. The findings supported the need for environmental changes that can aid in the development of management strategies and decision making regarding the selection.
The immunology of multiple sclerosis Attfield, Kathrine E; Jensen, Lise Torp; Kaufmann, Max ...
Nature reviews. Immunology,
12/2022, Letnik:
22, Številka:
12
Journal Article
Recenzirano
Our incomplete understanding of the causes and pathways involved in the onset and progression of multiple sclerosis (MS) limits our ability to effectively treat this complex neurological disease. ...Recent studies explore the role of immune cells at different stages of MS and how they interact with cells of the central nervous system (CNS). The findings presented here begin to question the exclusivity of an antigen-specific cause and highlight how seemingly distinct immune cell types can share common functions that drive disease. Innovative techniques further expose new disease-associated immune cell populations and reinforce how environmental context is critical to their phenotype and subsequent role in disease. Importantly, the differentiation of immune cells into a pathogenic state is potentially reversible through therapeutic manipulation. As such, understanding the mechanisms that provide plasticity to causal cell types is likely key to uncoupling these disease processes and may identify novel therapeutic targets that replace the need for cell ablation.
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-income countries and the burden of NAFLD is increasing at an alarming rate. The risk of developing NAFLD and ...related complications is highly variable among individuals and is determined by environmental and genetic factors. Genome-wide association studies have uncovered robust and reproducible associations between variations in genes such as PNPLA3, TM6SF2, MBOAT7, GCKR, HSD17B13 and the natural history of NAFLD. These findings have provided compelling new insights into the biology of NAFLD and highlighted potentially attractive pharmaceutical targets. More recently the development of polygenic risk scores, which have shown promising results for the clinical risk prediction of other complex traits (such as cardiovascular disease and breast cancer), have provided new impetus for the clinical validation of genetic variants in NAFLD risk stratification. Herein, we review current knowledge on the genetic architecture of NAFLD, including gene-environment interactions, and discuss the implications for disease pathobiology, drug discovery and risk prediction. We particularly focus on the potential clinical translation of recent genetic advances, discussing methodological hurdles that must be overcome before these discoveries can be implemented in everyday practice.
Metabolic reprogramming and cancer progression Faubert, Brandon; Solmonson, Ashley; DeBerardinis, Ralph J
Science (American Association for the Advancement of Science),
04/2020, Letnik:
368, Številka:
6487
Journal Article
Recenzirano
Odprti dostop
Metabolic reprogramming is a hallmark of malignancy. As our understanding of the complexity of tumor biology increases, so does our appreciation of the complexity of tumor metabolism. Metabolic ...heterogeneity among human tumors poses a challenge to developing therapies that exploit metabolic vulnerabilities. Recent work also demonstrates that the metabolic properties and preferences of a tumor change during cancer progression. This produces distinct sets of vulnerabilities between primary tumors and metastatic cancer, even in the same patient or experimental model. We review emerging concepts about metabolic reprogramming in cancer, with particular attention on why metabolic properties evolve during cancer progression and how this information might be used to develop better therapeutic strategies.
The incidence of type 2 diabetes (T2D) has rapidly increased over recent decades, and T2D has become a leading public health challenge in China. Compared with European descents, Chinese patients with ...T2D are diagnosed at a relatively young age and low BMI. A better understanding of the factors contributing to the diabetes epidemic is crucial for determining future prevention and intervention programs. In addition to environmental factors, genetic factors contribute substantially to the development of T2D. To date, more than 100 susceptibility loci for T2D have been identified. Individually, most T2D genetic variants have a small effect size (10-20% increased risk for T2D per risk allele); however, a genetic risk score that combines multiple T2D loci could be used to predict the risk of T2D and to identify individuals who are at a high risk. Furthermore, individualized antidiabetes treatment should be a top priority to prevent complications and mortality. In this article, we review the epidemiological trends and recent progress in the understanding of T2D genetic etiology and further discuss personalized medicine involved in the treatment of T2D.
IMPORTANCE: Genetic factors increase risk of dementia, but the extent to which this can be offset by lifestyle factors is unknown. OBJECTIVE: To investigate whether a healthy lifestyle is associated ...with lower risk of dementia regardless of genetic risk. DESIGN, SETTING, AND PARTICIPANTS: A retrospective cohort study that included adults of European ancestry aged at least 60 years without cognitive impairment or dementia at baseline. Participants joined the UK Biobank study from 2006 to 2010 and were followed up until 2016 or 2017. EXPOSURES: A polygenic risk score for dementia with low (lowest quintile), intermediate (quintiles 2 to 4), and high (highest quintile) risk categories and a weighted healthy lifestyle score, including no current smoking, regular physical activity, healthy diet, and moderate alcohol consumption, categorized into favorable, intermediate, and unfavorable lifestyles. MAIN OUTCOMES AND MEASURES: Incident all-cause dementia, ascertained through hospital inpatient and death records. RESULTS: A total of 196 383 individuals (mean SD age, 64.1 2.9 years; 52.7% were women) were followed up for 1 545 433 person-years (median interquartile range follow-up, 8.0 7.4-8.6 years). Overall, 68.1% of participants followed a favorable lifestyle, 23.6% followed an intermediate lifestyle, and 8.2% followed an unfavorable lifestyle. Twenty percent had high polygenic risk scores, 60% had intermediate risk scores, and 20% had low risk scores. Of the participants with high genetic risk, 1.23% (95% CI, 1.13%-1.35%) developed dementia compared with 0.63% (95% CI, 0.56%-0.71%) of the participants with low genetic risk (adjusted hazard ratio, 1.91 95% CI, 1.64-2.23). Of the participants with a high genetic risk and unfavorable lifestyle, 1.78% (95% CI, 1.38%-2.28%) developed dementia compared with 0.56% (95% CI, 0.48%-0.66%) of participants with low genetic risk and favorable lifestyle (hazard ratio, 2.83 95% CI, 2.09-3.83). There was no significant interaction between genetic risk and lifestyle factors (P = .99). Among participants with high genetic risk, 1.13% (95% CI, 1.01%-1.26%) of those with a favorable lifestyle developed dementia compared with 1.78% (95% CI, 1.38%-2.28%) with an unfavorable lifestyle (hazard ratio, 0.68 95% CI, 0.51-0.90). CONCLUSIONS AND RELEVANCE: Among older adults without cognitive impairment or dementia, both an unfavorable lifestyle and high genetic risk were significantly associated with higher dementia risk. A favorable lifestyle was associated with a lower dementia risk among participants with high genetic risk.
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