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Current Issues in Molecular Biology Dec 2023Lipids are important modifiers of protein function, particularly as parts of lipoproteins, which transport lipophilic substances and mediate cellular uptake of... (Review)
Review
Lipids are important modifiers of protein function, particularly as parts of lipoproteins, which transport lipophilic substances and mediate cellular uptake of circulating lipids. As such, lipids are of particular interest as blood biological markers for cardiovascular disease (CVD) as well as for conditions linked to CVD such as atherosclerosis, diabetes mellitus, obesity and dietary states. Notably, lipid research is particularly well developed in the context of CVD because of the relevance and multiple causes and risk factors of CVD. The advent of methods for high-throughput screening of biological molecules has recently resulted in the generation of lipidomic profiles that allow monitoring of lipid compositions in biological samples in an untargeted manner. These and other earlier advances in biomedical research have shaped the knowledge we have about lipids in CVD. To evaluate the knowledge acquired on the multiple biological functions of lipids in CVD and the trends in their research, we collected a dataset of references from the PubMed database of biomedical literature focused on plasma lipids and CVD in human and mouse. Using annotations from these records, we were able to categorize significant associations between lipids and particular types of research approaches, distinguish non-biological lipids used as markers, identify differential research between human and mouse models, and detect the increasingly mechanistic nature of the results in this field. Using known associations between lipids and proteins that metabolize or transport them, we constructed a comprehensive lipid-protein network, which we used to highlight proteins strongly connected to lipids found in the CVD-lipid literature. Our approach points to a series of proteins for which lipid-focused research would bring insights into CVD, including Prostaglandin G/H synthase 2 (PTGS2, a.k.a. COX2) and Acylglycerol kinase (AGK). In this review, we summarize our findings, putting them in a historical perspective of the evolution of lipid research in CVD.
PubMed: 38132464
DOI: 10.3390/cimb45120618 -
Rheumatology International Feb 2012The aim of this study was to explore whether the candidate gene polymorphisms contribute to fibromyalgia susceptibility. The authors conducted a meta-analysis on... (Meta-Analysis)
Meta-Analysis Review
The aim of this study was to explore whether the candidate gene polymorphisms contribute to fibromyalgia susceptibility. The authors conducted a meta-analysis on associations between serotonin transporter (5-HTT) gene-linked polymorphic region (5-HTTLPR) S/L allele, catechol-O-methltransferase (COMT) val158Met, and serotonin 2A (5-HT2A) receptor 102T/C polymorphisms and fibromyalgia susceptibility as determined using the following: (1) allele contrast, (2) recessive, (3) dominant models, and (4) contrast of homozygotes. We also performed a systematic review with available data of the candidate genes. A total of 21 separate comparisons were considered in this systematic review and meta-analysis. Seventeen candidate genes and over 35 different polymorphisms were identified in studies on fibromyalgia susceptibility. Meta-analysis of the 5-HTTLPR S/L allele and COMT val158Met failed to reveal any association with fibromyalgia. However, meta-analysis of the C allele, CC + CT genotype, and CC versus TT genotype of the 5-HT2A receptor 102T/C polymorphism showed significant association with fibromyalgia. The overall OR of the association between the C allele and fibromyalgia was 1.333 (95% CI = 1.053-1.688, P = 0.017). The ORs for the CC + CT genotype, and CC versus TT genotype showed the same pattern as that observed for the C allele (OR = 1.541, 95% CI = 1.032-2.303, P = 0.035; OR = 1.838, 95% CI = 1.151-2.936, P = 0.011). This meta-analysis demonstrates that the 5-HT2A receptor 102T/C polymorphism confers susceptibility to fibromyalgia. In contrast, no association was found between the 5-HTTLPR S/L allele, COMT val158Met, and susceptibility to fibromyalgia.
Topics: Alleles; Catechol O-Methyltransferase; Fibromyalgia; Genes, Dominant; Genes, Recessive; Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Receptor, Serotonin, 5-HT2A; Receptors, Neurotransmitter; Serotonin Plasma Membrane Transport Proteins
PubMed: 21120487
DOI: 10.1007/s00296-010-1678-9 -
European Neuropsychopharmacology : the... Oct 2013Suicide is one of the leading causes of death in the world. Its aetiology is complex and diverse, however, epidemiological studies show that suicidal behavior is partly... (Review)
Review
Suicide is one of the leading causes of death in the world. Its aetiology is complex and diverse, however, epidemiological studies show that suicidal behavior is partly heritable. Neurobiological evidence implicates serotonergic dysfunction in suicidality, stimulating genetic research to focus on genes related to the serotonergic system. In this paper, we review evidence from studies examining the association between various serotonergic genes (Tryptophan Hydroxylase genes: TPH1; TPH2, Serotonin Transporter gene: 5-HTTLPR in SLC6A4, Serotonin Receptor genes: HTR1A, HTR2A, HTR1B, HTR2C and Monoamine Oxidase A gene: MAOA) and suicidal behavior. The data show associations between variation on the TPH1 gene and 5-HTTLPR gene and violent suicidal behavior in Caucasian populations, with the least inconsistencies. Results are mixed for the TPH2 gene and serotonin receptor genes, but for some genes, studies that include haplotypic analyses or that examine a larger coding region of the genes tend to provide more reliable results. Findings on endophenotypes of suicidality, such as aggression and impulsivity traits, show positive associations for the TPH1, HTR2A, and MAOA genes, but need further replication, since negative associations are also occasionally reported. Since genes can only partially explain suicidal risk, several studies during the past decade have tried to incorporate environmental factors in the susceptibility model. Studies to date show that variation on the 5-HTTLPR, MAOA and HTR2A gene can interact with stressful life events to increase risk for suicidal behavior. Limitations of case-control studies are discussed and future considerations are put forward with regard to endophenotypic measurements and gene-environment interactions.
Topics: Alleles; Animals; Brain; Case-Control Studies; Endophenotypes; Evidence-Based Medicine; Gene-Environment Interaction; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Humans; Monoamine Oxidase; Nerve Tissue Proteins; Neurons; Protein Isoforms; Receptors, Serotonin; Self-Injurious Behavior; Serotonin Plasma Membrane Transport Proteins; Tryptophan Hydroxylase; Suicide Prevention
PubMed: 23742855
DOI: 10.1016/j.euroneuro.2013.03.013 -
Proteomes Nov 2017We performed a systematic review and meta-analysis of proteomics literature that reports human skeletal muscle responses in the context of either pathological decline... (Review)
Review
A Systematic Review and Meta-Analysis of Proteomics Literature on the Response of Human Skeletal Muscle to Obesity/Type 2 Diabetes Mellitus (T2DM) Versus Exercise Training.
We performed a systematic review and meta-analysis of proteomics literature that reports human skeletal muscle responses in the context of either pathological decline associated with obesity/T2DM and physiological adaptations to exercise training. Literature was collected from PubMed and DOAJ databases following PRISMA guidelines using the search terms 'proteom*', and 'skeletal muscle' combined with either 'obesity, insulin resistance, diabetes, impaired glucose tolerance' or 'exercise, training'. Eleven studies were included in the systematic review, and meta-analysis was performed on a sub-set (four studies) of the reviewed literature that reported the necessary primary data. The majority of proteins ( = 73) more abundant in the muscle of obese/T2DM individuals were unique to this group and not reported to be responsive to exercise training. The main response of skeletal muscle to exercise training was a greater abundance of proteins of the mitochondrial electron transport chain, tricarboxylic acid cycle and mitochondrial respiratory chain complex I assembly. In total, five proteins were less abundant in muscle of obese/T2DM individuals and were also reported to be more abundant in the muscle of endurance-trained individuals, suggesting one of the major mechanisms of exercise-induced protection against the deleterious effects of obesity/T2DM occurs at complex I of the electron transport chain.
PubMed: 29137117
DOI: 10.3390/proteomes5040030 -
Current Stem Cell Research & Therapy Jul 2012The term tissue engineering is the technology that combines cells, engineering and biological/synthetic material in order to repair, replace or regenerate biological... (Review)
Review
The term tissue engineering is the technology that combines cells, engineering and biological/synthetic material in order to repair, replace or regenerate biological tissues such as bone, muscle, tendons and cartilage. The major human applications of tissue engineering are: skin, bone, cartilage, corneas, blood vessels, left mainstem bronchus and urinary structures. In this systematic review several criteria were identified as the most desirable characteristics of an ideal scaffold. These state that an ideal scaffolds needs to be biodegradable, possess mechanical strength, be highly porous, biocompatible, non-cytotoxic, non antigentic, stuitable for cell attachment, proliferation and differentiation, flexible and elastic, three dimensional, osteoconductive and support the transport of nutrients and metabolic waste. Subsequently, studies reporting on the various advantages and disadvantages of using collagen based scaffolds in musculoskeletal and cartilage tissue engineering were identified. The purpose of this review is to 1) provide a list of ideal characteristics of a scaffold as identified in the literature 2) identify different types of biological protein-based collagen scaffolds used in musculoskeletal and cartilage tissue engineering 3) assess how many of the criteria each scaffold type meets 4) weigh different scaffolds against each other according to their relative properties and shortcomings. The rationale behind this approach is that the ideal scaffold material has not yet been identified. Hence, this review will define how many of the identified ideal characteristics are fulfilled by natural collagen-based scaffolds and address the shortcomings of its use as found in the literature.
Topics: Animals; Cartilage; Collagen; Evaluation Studies as Topic; Guided Tissue Regeneration; Humans; Regenerative Medicine; Stem Cell Transplantation; Tissue Engineering; Tissue Scaffolds
PubMed: 22563667
DOI: 10.2174/157488812800793045 -
PloS One 20145-Hydroxytryptamine receptor (5-HTR) and 5-hydroxytryptamine transporter (5-HTT) gene polymorphisms have been reported to be associated with susceptibility to... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
5-Hydroxytryptamine receptor (5-HTR) and 5-hydroxytryptamine transporter (5-HTT) gene polymorphisms have been reported to be associated with susceptibility to obstructive sleep apnea syndrome (OSAS). The associations, derived from sporadic, inconsistent, small-sample-size studies, need to be evaluated further in a meta-analysis.
METHODS
Relevant studies were identified by searching PubMed, Embase, The Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang, and Weipu. Eligible data were extracted from each included study. Odds ratios (ORs) were calculated using a fixed-effects or a random-effects model. The ORs and 95% confidence interval (CI) were used to assess the strength of the association between serotonergic gene polymorphisms and OSAS in the dominant and recessive models, as well as alleles. The Q statistic was used to evaluate homogeneity and Begg's test was used to assess publication bias.
RESULTS
Eight studies were finally included in the meta-analysis of the association between 5-HTR2A gene variants (including 102T/C and 1438G/A), 5-HTT gene polymorphisms (including 5-HTT gene-linked promoter region (5-HTTLRP), and serotonin transporter intron 2 variable number tandem repeat (STin2VNTR) and OSAS risk. The G allele of 5-HTR2A 1438G/A, long 5-HTTLPR, and 10-tandem-repeats STin2VNTR were shown to increase OSAS susceptibility, with ORs of 2.33 (A vs. G, 95% CI 1.48-3.66), 1.24 (L vs. S, 95% CI: 1.04-1.49), and 2.87 (10 vs. 12, 95% CI: 1.38-5.97), respectively. These significant differences were determined in both dominant and recessive models. Of the 5-HTR2A 1438G/A gene polymorphism, the AA genotype increased the OSAS risk, with an OR of 4.21 (95% CI: 2.83-6.25) in a recessive model in male OSAS patients, but no significant association was found in females.
CONCLUSIONS
Our meta-analysis demonstrated that polymorphisms in the 5-HTR2A 1438G/A and 5-HTT genes contributed to susceptibility to OSAS. The A allele of the 1438G/A gene polymorphism is predominantly distributed in males and increased the OSAS risk significantly.
Topics: Female; Genetic Association Studies; Humans; Male; Receptor, Serotonin, 5-HT2A; Serotonin Plasma Membrane Transport Proteins; Sex Factors; Sleep Apnea, Obstructive
PubMed: 24475124
DOI: 10.1371/journal.pone.0086460 -
International Journal of Pediatric... Oct 2013The IVS7-2A>G (c.919-2A>G) and p.H723R (c.2168A>G) mutations of SLC26A4 gene are recognized as a risk factor for the non-syndromic hearing loss. To elucidate the... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The IVS7-2A>G (c.919-2A>G) and p.H723R (c.2168A>G) mutations of SLC26A4 gene are recognized as a risk factor for the non-syndromic hearing loss. To elucidate the variable results, a meta-analysis and systematic review was performed from all case-control studies by pooling data on them.
METHODS
The case-control studies were assessed with a modification of the Newcastle-Ottawa Scale (NOS). The strength of association between c.919-2A>G, c.2168A>G and hearing loss risk was measured by odds ratios (ORs) with 95% confidence intervals (CIs).
RESULTS
We included 14 case-control studies and 16 case series studies in present study. There was a higher prevalence of the c.919-2A>G mutation in the case group than that in the control group (12.4% vs 0.9%; OR = 13.05, 95% CI: 8.41-20.23, Z = 11.47, P<0.00001).
CONCLUSIONS
In conclusion, the results from this meta-analysis suggest that NSHL patients have an increased risk of the c.919-2A>G mutation of SLC26A4 gene in Asians, especially in Chinese.
Topics: Asian People; Case-Control Studies; China; Female; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Humans; Male; Membrane Transport Proteins; Mutation; Prevalence; Risk Assessment; Sulfate Transporters
PubMed: 23958391
DOI: 10.1016/j.ijporl.2013.07.023 -
Journal of Sports Sciences Feb 2020High-intensity-interval-training (HIIT) has been suggested to have beneficial effects in multiple populations across individual systematic reviews, although there is a... (Meta-Analysis)
Meta-Analysis
High-intensity-interval-training (HIIT) has been suggested to have beneficial effects in multiple populations across individual systematic reviews, although there is a lack of clarity in the totality of the evidence whether HIIT is effective and safe across different populations and outcomes. The aim of this meta-review was to establish the benefits, safety and adherence of HIIT interventions across all populations from systematic reviews and meta-analyses. Major databases were searched for systematic reviews (with/without meta-analyses) of randomised & non-randomised trials that compared HIIT to a control. Thirty-three systematic reviews (including 25 meta-analyses) were retrieved encompassing healthy subjects and people with physical health complications. Evidence suggested HIIT improved cardiorespiratory fitness, anthropometric measures, blood glucose and glycaemic control, arterial compliance and vascular function, cardiac function, heart rate, some inflammatory markers, exercise capacity and muscle mass, versus non-active controls. Compared to active controls, HIIT improved cardiorespiratory fitness, some inflammatory markers and muscle structure. Improvements in anxiety and depression were seen compared to pre-training. Additionally, no acute injuries were reported, and mean adherence rates surpassed 80% in most systematic reviews. Thus, HIIT is associated with multiple benefits. Further large-scale high-quality studies are needed to reaffirm and expand these findings. ACSM: American College of Sports Medicine; BMI: Body Mass Index; BNP: Brain Natriuretic Peptide; BP: Blood Pressure; CAD: Coronary Artery Disease; CHD: Coronary Heart Disease; COPD: Chronic Obstructive Pulmonary Disease; CRP: c- reactive Protein; CVD: Cardiovascular Disease; DBP: Diastolic Blood Pressure; ES: Effect Size; FAS: Reduced Fatty Acid Synthase; FATP-1: Reduced Fatty Acid Transport Protein 1; FMD: Flow Mediated Dilation; Hs-CRP: High-sensitivity c- reactive Protein; HDL: High Density Lipoprotein; HIIT: High-Intensity Interval Training; HOMA: Homoeostatic Model Assessment; HR: Heart Rate; HTx: Heart Transplant Recipients; IL-6: Interleukin-6; LDL: Low Density Lipoprotein; LV: Left Ventricular; LVEF: Left Ventricular Ejection Fraction; MD: Mean Difference; MetS: Metabolic Syndrome; MPO: Myeloperoxidase; MICT: Moderate-Intensity Continuous Training; NO: Nitric Oxide; NRCT: Non-Randomised Controlled Trial; PA: Physical Activity; PAI-1: Plasminogen-activator-inhibitor-1; QoL: Quality of Life; RCT: Randomised Controlled Trial; RoB: Risk of Bias; RPP: Rate Pressure Product; RT: Resistance Training; SBP: Systolic Blood Pressure; SD: Standardised Difference; SMD: Standardised Mean Difference; TAU: Treatment-As-Usual; T2DM: Type 2 Diabetes Mellitus; TC: Total Cholesterol; TG: Triglycerides; TNF-alfa: Tumour Necrosis Factor alpha; UMD: Unstandardised Mean Difference; WC: Waist Circumference; WHR: Waist-to-Hip Ratio; WMD: Weighted Mean Difference: HIIT may improve cardiorespiratory fitness, cardiovascular function, anthropometric variables, exercise capacity, muscular structure and function, and anxiety and depression severity in healthy individuals and those with physical health disorders.Additionally, HIIT appears to be safe and does not seem to be associated with acute injuries or serious cardiovascular events.
Topics: Anthropometry; Anxiety; Biomarkers; Cardiorespiratory Fitness; Depression; Exercise Tolerance; High-Intensity Interval Training; Humans; Inflammation; Mental Health; Muscle, Skeletal; Quality of Life
PubMed: 31889469
DOI: 10.1080/02640414.2019.1706829 -
Journal of Affective Disorders Jan 2016Serotonin transporter-linked polymorphic region (5-HTTLPR) variants have been extensively studied in psychiatric disorders. Although gender effects have been reported,... (Review)
Review
BACKGROUND
Serotonin transporter-linked polymorphic region (5-HTTLPR) variants have been extensively studied in psychiatric disorders. Although gender effects have been reported, they have not been comprehensively reviewed. The aim of our study was to summarize literature findings on 5-HTTLPR and gender differences in affective disorders.
METHODS
A systematic search of PubMed, ISI Web of Knowledge, and PsycINFO databases was performed for dates until January 2015. The included articles (n=78) analyzed the association between 5-HTTLPR and affective spectrum disorders, taking into account gender. The quality of each study was assessed through STROBE and CONSORT.
RESULTS
5-HTTLPR modulation of affective disorders varied by gender. The S allele (or SS genotype) seemed to be differently associated with an increased risk of depression, depressive symptoms, anxiety traits and symptoms, and symptoms of internalizing behavior among women and an increased risk of aggressiveness, conduct disorder and symptom counts of externalizing behavior among men. Moreover, the presence of stressful life events reinforced the association. Interestingly, these differences seemed to begin with adolescence and were not consistent among the elderly, suggesting a plausible role of hormonal fluctuations.
LIMITATIONS
The review is limited by the small number of included papers, due to the paucity of information in the literature regarding 5-HTTLPR and gender.
CONCLUSIONS
5-HTTLPR variants may exert a differential modulation on a number of features depending on gender. Further studies are needed to more deeply investigate the effect of 5-HTTLPR×gender on the modulation of affective disorders.
Topics: Adolescent; Adult; Aged; Depression; Female; Genotype; Humans; Male; Middle Aged; Mood Disorders; Serotonin Plasma Membrane Transport Proteins; Sex Characteristics; Young Adult
PubMed: 26519640
DOI: 10.1016/j.jad.2015.09.027 -
Nutrients Nov 2021Several observational studies have examined vitamin D pathway polymorphisms and their association with type 1 diabetes (T1D) susceptibility, with inconclusive results.... (Meta-Analysis)
Meta-Analysis
Several observational studies have examined vitamin D pathway polymorphisms and their association with type 1 diabetes (T1D) susceptibility, with inconclusive results. We aimed to perform a systematic review and meta-analysis assessing associations between selected variants affecting 25-hydroxyvitamin D [25(OH)D] and T1D risk. We conducted a systematic search of Medline, Embase, Web of Science and OpenGWAS updated in April 2021. The following keywords "vitamin D" and/or "single nucleotide polymorphisms (SNPs)" and "T1D" were selected to identify relevant articles. Seven SNPs (or their proxies) in six genes were analysed: rs10741657, (low frequency) rs117913124, rs12785878, rs3755967, rs17216707, rs10745742 and rs8018720. Seven case-control and three cohort studies were eligible for quantitative synthesis ( = 10). Meta-analysis results suggested no association with T1D (range of pooled ORs for all SNPs: 0.97-1.02; > 0.01). Heterogeneity was found in rs12785878 (I: 64.8%, = 0.02). Sensitivity analysis showed exclusion of any single study did not alter the overall pooled effect. No association with T1D was observed among a Caucasian subgroup. In conclusion, the evidence from the meta-analysis indicates a null association between selected variants affecting serum 25(OH)D concentrations and T1D.
Topics: Adolescent; Adult; Amidohydrolases; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; Child; Child, Preschool; Cholestanetriol 26-Monooxygenase; Cohort Studies; Cytochrome P450 Family 2; Diabetes Mellitus, Type 1; Female; Genetic Predisposition to Disease; Humans; Male; Oxidoreductases Acting on CH-CH Group Donors; Polymorphism, Single Nucleotide; Receptors, Calcitriol; Vesicular Transport Proteins; Vitamin D; Vitamin D Deficiency; Vitamin D-Binding Protein; Vitamin D3 24-Hydroxylase; Young Adult
PubMed: 34959812
DOI: 10.3390/nu13124260