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Journal of Reproductive Immunology Aug 2023There is abundant evidence to suggest that cytokines play a part in the mechanisms responsible for the formation of endometrium heterotopy. Cytokine synthesis is not... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
There is abundant evidence to suggest that cytokines play a part in the mechanisms responsible for the formation of endometrium heterotopy. Cytokine synthesis is not only determined by the body's immunological reactivity but also by polymorphisms in the immune regulatory genes. The study of these polymorphisms in the immune regulatory genes offers up new possibilities in terms of prognosticating the risk of endometriosis and susceptibility to its treatment. The purpose of this comprehensive systematic review and meta-analysis was to investigate whether or not cytokine gene polymorphisms were linked to an increased chance of endometriosis.
METHODS
By searching MEDLINE, Scopus, and Web of Science databases, the relevant studies were identified. The odds ratio (OR) with 95% confidence interval (CI) was used to assess the association between TNF-α/IL-10/IL-6/TGF-β/IFN-γ/IL-1β gene polymorphisms and endometriosis risk.
RESULTS
A total of 5128 cases and 5334 controls in 32 eligible studies were included in the meta-analysis. Overall, results indicated the negative association between the cytokine gene polymorphisms and endometriosis in the dominant model of TNF-α (rs1799964): [OR] = 0.64, [CI]: 0.46-0.89) and a positive association in IFN-γ a13 allele: OR= 1.45, [CI]: 1.07-1.98; and IL-10 (rs1800872): [OR]= 1.60, [CI]: 1.21-2.12).
CONCLUSION
The present study suggests that IL-10 (rs1800872) and IFN-γ a13 allele may be a risk factors for endometriosis. Also, TNF-α (rs1799964) is associated with decreased susceptibility to endometriosis.
Topics: Female; Humans; Interleukin-10; Tumor Necrosis Factor-alpha; Endometriosis; Polymorphism, Single Nucleotide; Genetic Predisposition to Disease; Cytokines; Genotype
PubMed: 37295065
DOI: 10.1016/j.jri.2023.103969 -
Molecular Genetics & Genomic Medicine Nov 2023Among present reports, the T/G allelic variation at the rs2609255 locus of the family sequence similarity gene 13A (FAM13A) was considerable associated with... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Among present reports, the T/G allelic variation at the rs2609255 locus of the family sequence similarity gene 13A (FAM13A) was considerable associated with susceptibility to interstitial lung diseases (ILDs). In this study, we summarized relevant studies and applied a meta-analysis to explore whether the polymorphism of rs2609255 site of the FAM13A gene can be utilized to predict susceptibility to idiopathic pulmonary fibrosis (IPF) patients or rheumatoid arthritis-associated interstitial lung disease (RA-ILD) or silicosis patients in different populations for the first time.
METHODS
We compared the frequency of G allele on rs2609255 site of FAM13A between the control subjects and IPF or RA-ILD or silicosis patients from different races by using meta-analysis. Nine studies were involved in this meta-analysis, including five IPF studies, two RA-ILD studies, and two silicosis studies, and containing 14 subgroups. We conducted separate meta-analyses for different races.
RESULTS
In all individuals, a substantial link between the G allele of the FAM13A rs2609255 polymorphism and IPF (OR: 1.47, 95% CI: 1.33-1.63, p < 0.00001) was indicated. After dividing by ethnicity, the G allele was illustrated to be considerable correlation with IPF in Asian (OR: 2.63, 95% CI: 1.81-3.81, p < 0.00001) and with RA-ILD individuals (OR: 3.27, 95% CI: 1.26-8.49, p = 0.01). Conversely, there was no correlation with the G allele and IPF in European individuals (OR: 1.27, 95% CI: 0.89-1.83, p = 0.13) or silicosis in Chinese individuals (OR: 1.20, 95% CI: 0.99-1.46, p = 0.07).
CONCLUSION
This is the first meta-analysis that provides evidence that the rs2609255 of FAM13A might increase susceptibility to RA-ILD, and IPF especially in Asian but not in European individuals, and not be correlated with silicosis in Chinese individuals, which indicated the differences in susceptibility to disease by race were noteworthy.
Topics: Humans; Lung Diseases, Interstitial; Idiopathic Pulmonary Fibrosis; Polymorphism, Genetic; Arthritis, Rheumatoid; Silicosis; GTPase-Activating Proteins
PubMed: 37786320
DOI: 10.1002/mgg3.2279 -
Journal of the Neurological Sciences Oct 2023Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease involving immune-mediated damage. Iron deposition in deep gray matter (DGM) structures... (Review)
Review
Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease involving immune-mediated damage. Iron deposition in deep gray matter (DGM) structures like the thalamus and basal ganglia have been suggested to play a role in MS pathogenesis. Magnetic Resonance Imaging (MRI) imaging methods like T2 and T2* imaging, susceptibility-weighted imaging, and quantitative susceptibility mapping can track iron deposition storage in the brain primarily from ferritin and hemosiderin (paramagnetic iron storage proteins) with varying levels of tissue contrast and sensitivity. In this systematic review, we evaluated the role of DGM iron deposition as detected by MRI techniques in relation to MS-related neuroinflammation and its potential as a novel therapeutic target. We searched through PubMed, Embase, and Web of Science databases following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, against predetermined inclusion and exclusion criteria. We included 89 articles (n = 6630 patients), and then grouped them into different categories: i) methodological techniques to measure DGM iron, ii) cross-sectional and group comparison of DGM iron content, iii) longitudinal comparisons of DGM iron, iv) associations between DGM iron and other imaging and neurobiological markers, v) associations with disability, and vi) associations with cognitive impairment. The review revealed that iron deposition in DGM is independent yet concurrent with demyelination, and that these iron deposits contribute to MS-related cognitive impairment and disability. Variability in iron distributions appears to rely on a positive feedback loop between inflammation, and release of iron by oligodendrocytes. DGM iron seems to be a promising prognostic biomarker for MS pathophysiology.
Topics: Humans; Gray Matter; Neurodegenerative Diseases; Cross-Sectional Studies; Multiple Sclerosis; Magnetic Resonance Imaging; Brain; Inflammation; Iron
PubMed: 37827008
DOI: 10.1016/j.jns.2023.120816 -
Medicine Feb 2024Alopecia areata (AA) is an autoimmune disease which results in non-scarring hair loss on the scalp or any surface with hair. Several genetic polymorphisms of the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Alopecia areata (AA) is an autoimmune disease which results in non-scarring hair loss on the scalp or any surface with hair. Several genetic polymorphisms of the interleukin genes have been linked with this disease but the results are inconsistent. This systematic review and meta-analysis were done to find the association between rs3118470, rs2275913, rs3212227, and rs10889677 of the IL2RA, IL17A, IL12B, and IL23R genes, respectively, of the interleukin family with alopecia areata.
METHODS
A comprehensive search for relevant research articles was conducted in Pubmed, Google Scholar, and Embase databases. Our search yielded 8 relevant articles with 1940 cases and 1788 controls. The odds ratio with 95% confidence intervals was calculated using fixed effect and random effect models. Heterogeneity was determined using the Q-test and I2 test. Publication bias was determined and funnel plots were used to adjust the odds ratio.
RESULTS
We found a significant risk effect for rs3118470 of the IL2RA gene with alopecia areata in the dominant model (CC + CT vs TT; OR = 1.54, 95% confidence interval = 1.05-2.26, P < .05, I2 = 69.03%) and homozygous model (CC vs TT; OR = 2.00, 95% confidence interval = 1.07-3.71, P < .05, I2 = 72.84%). For the other single nucleotide polymorphisms, we could not find any statistically significant association with the disease.
CONCLUSION
Our analysis showed that mutation of rs3118470 of IL2RA gene possesses a significant risk effect for alopecia areata. Future studies with larger sample sizes and ethnic backgrounds are warranted to confirm our findings.
Topics: Humans; Alopecia Areata; Genetic Predisposition to Disease; Interleukins; Polymorphism, Single Nucleotide
PubMed: 38394507
DOI: 10.1097/MD.0000000000037300 -
The Journal of Investigative Dermatology May 2024Prior studies have found associations between atopic dermatitis (AD) and comorbidities, including depression, obesity, asthma, and allergic rhinitis. Although...
Prior studies have found associations between atopic dermatitis (AD) and comorbidities, including depression, obesity, asthma, and allergic rhinitis. Although observational studies often cannot establish robust causality between potential risk factors and AD, Mendelian randomization minimizes confounding when exploring causality by relying on random allelic assortment at birth. In this study, we systematically reviewed 30 Mendelian randomization studies in AD. Body mass index, gut microbial flora, the IL-18 signaling pathway, and gastroesophageal reflux disease were among the causal factors for AD, whereas AD was causal for several medical conditions, including heart failure, rheumatoid arthritis, and conjunctivitis. These insights may improve preventive counseling in AD.
Topics: Humans; Dermatitis, Atopic; Mendelian Randomization Analysis; Risk Factors; Comorbidity; Gastrointestinal Microbiome; Body Mass Index; Gastroesophageal Reflux; Interleukin-18; Genetic Predisposition to Disease
PubMed: 37977498
DOI: 10.1016/j.jid.2023.10.016 -
Military Medical Research Oct 2023Physiological and biochemical processes across tissues of the body are regulated in response to the high demands of intense physical activity in several occupations,...
BACKGROUND
Physiological and biochemical processes across tissues of the body are regulated in response to the high demands of intense physical activity in several occupations, such as firefighting, law enforcement, military, and sports. A better understanding of such processes can ultimately help improve human performance and prevent illnesses in the work environment.
METHODS
To study regulatory processes in intense physical activity simulating real-life conditions, we performed a multi-omics analysis of three biofluids (blood plasma, urine, and saliva) collected from 11 wildland firefighters before and after a 45 min, intense exercise regimen. Omics profiles post- versus pre-exercise were compared by Student's t-test followed by pathway analysis and comparison between the different omics modalities.
RESULTS
Our multi-omics analysis identified and quantified 3835 proteins, 730 lipids and 182 metabolites combining the 3 different types of samples. The blood plasma analysis revealed signatures of tissue damage and acute repair response accompanied by enhanced carbon metabolism to meet energy demands. The urine analysis showed a strong, concomitant regulation of 6 out of 8 identified proteins from the renin-angiotensin system supporting increased excretion of catabolites, reabsorption of nutrients and maintenance of fluid balance. In saliva, we observed a decrease in 3 pro-inflammatory cytokines and an increase in 8 antimicrobial peptides. A systematic literature review identified 6 papers that support an altered susceptibility to respiratory infection.
CONCLUSION
This study shows simultaneous regulatory signatures in biofluids indicative of homeostatic maintenance during intense physical activity with possible effects on increased infection susceptibility, suggesting that caution against respiratory diseases could benefit workers on highly physical demanding jobs.
Topics: Humans; Multiomics; Exercise; Cytokines
PubMed: 37853489
DOI: 10.1186/s40779-023-00477-5 -
Multiple Sclerosis and Related Disorders Nov 2023Recent developments in iron-sensitive MRI techniques have enabled visualization of chronic active lesions as paramagnetic rim lesions (PRLs) in vivo. Although PRLs have... (Review)
Review
Reliability of paramagnetic rim lesion classification on quantitative susceptibility mapping (QSM) in people with multiple sclerosis: Single-site experience and systematic review.
BACKGROUND
Recent developments in iron-sensitive MRI techniques have enabled visualization of chronic active lesions as paramagnetic rim lesions (PRLs) in vivo. Although PRLs have potential as a diagnostic and prognostic tool for multiple sclerosis (MS), limited studies have reported the reliability of PRL assessment. Further evaluation of PRL reliability, through original investigations and review of PRL literature, are warranted.
METHODS
A single-center cohort study was conducted to evaluate the inter-rater reliability of PRL identification on quantitative susceptibiltiy mapping (QSM) in 10 people with MS, 5 people with clinically isolated syndrome, and 5 healthy controls. An additional systematic literature search was then conducted of published PRL reliability data, and these results were synthesized.
RESULTS
In the single-center study, both inter-rater and intra-rater reliability of per-subject PRL number were at an "Excellent" (intraclass correlation coefficient (ICC) of 0.901 for both) level with only 2-years lesion classification experience. Across the reported literature values, reliability of per-lesion rim presence was on average "Near perfect" (for intra-rater; Cohen's κ = 0.833) and "Substantial" (for inter-rater; Cohens κ = 0.687), whereas inter-rater reliability of per-subject PRL number was "Good" (ICC = 0.874). Only 4/22 studies reported complete information on rater experience, rater level of training, detailed PRL classification criteria, and reliability cohort size and disease subtypes.
CONCLUSION
PRLs can be reliably detected both at per-lesion and per-subject level. We recommend that future PRL studies report detailed reliability results, including rater experience level, and use a standardized set of reliability metrics (Cohen's κ or ICC) for improved comparability between studies.
Topics: Humans; Cohort Studies; Multiple Sclerosis; Reproducibility of Results; Magnetic Resonance Imaging; Iron
PubMed: 37716210
DOI: 10.1016/j.msard.2023.104968 -
Archives of Dermatological Research May 2024Methylenetetrahydrofolate reductase (MTHFR) is key to the metabolism of folic acid, with loss of function mutations resulting in elevated homocysteine levels, a known... (Meta-Analysis)
Meta-Analysis Review
Methylenetetrahydrofolate reductase (MTHFR) is key to the metabolism of folic acid, with loss of function mutations resulting in elevated homocysteine levels, a known risk factor for cardiovascular disease. Psoriasis patients may demonstrate hyperhomocysteinemia. To assess for the association between psoriasis and MTHFR C677T and A1298C polymorphisms. A systematic literature search was conducted in MEDLINE, Embase, Cochrane CENTRAL, and Web of Science. Case reports, case-control, cohort, and cross-sectional studies with full-text availability in English were considered. Meta-analysis was conducted with pooled ORs calculated via the random effects model (I2 > 50%). Of 917 records identified, 10 studies were selected for review of 1965 psoriasis patients and 2030 controls. Meta-analysis demonstrated that for MTHFR C677T, there were positive associations between psoriasis and the allele contrast model (C vs T, pooled OR = 1.69, 95% CI = 1.10-2.59), the additive model (CC vs TT, pooled OR = 2.44, 95% CI = 1.06-5.60), the dominant model (CC vs CT + TT, pooled OR = 1.77, 95% CI = 1.06-2.98), and the recessive model (CC + CT vs TT, pooled OR = 2.08, 95% CI = 1.05-4.13). For MTHFR A1298C, there were positive associations between psoriasis and the allele contrast model (A vs C, pooled OR = 3.57, 95% CI = 1.19-10.68), the dominant model (AA vs AC + CC, pooled OR = 4.44, 95% CI = 1.12-17.66), and the overdominant model (AC vs AA + CC, pooled OR = 0.26, 95% CI = 0.07-0.91). There may be a link between the C677T and A1298C polymorphisms with psoriasis diagnosis.
Topics: Psoriasis; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Risk Factors; Alleles
PubMed: 38771513
DOI: 10.1007/s00403-024-02905-5 -
Cytokine Dec 2023Toll-like receptor 2 (TLR2) is a crucial factor in the development of tuberculosis. However, no studies have explored the association between TLR2 polymorphisms and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Toll-like receptor 2 (TLR2) is a crucial factor in the development of tuberculosis. However, no studies have explored the association between TLR2 polymorphisms and tuberculosis susceptibility.
OBJECTIVES
This study aimed to explore the correlation between tuberculosis susceptibility and TLR2 polymorphisms (rs3804099, rs3804100, rs1898830, rs5743708, rs121917864, and (-196-174) del).
METHODS
All relevant online databases including PubMed, CNKI, WANFANG DATA, and METSTR-FMRS were systematically searched. STATA17.0 (Stata Corp LP, College Station, Texas, USA) was used.
RESULTS
A total of 37 studies, covering six polymorphisms and comprising 9,474 cases and 10,295 controls, were included in this analysis. rs3804099(C vs T: OR = 1.00, 95 % CI: 0.93-1.08, CC + TC vs TT: OR = 1.04, 95 % CI: 0.98-1.10), rs3804100 (C vs T: OR = 1.19, 95 % CI: 0.93-1.07, CC + TC vs TT: OR = 0.97, 95 % CI: 0.89-1.06), rs1898830(G vs A: OR = 0.90, 95 % CI: 0.81-1.00, GG + AG vs AA: OR = 0.87, 95 % CI: 0.67-1.12), (-196 ∼174) del polymorphism (Del vs Ins: OR = 0.93,95 % CI: 0.76-1.14, DD + DI vs II: OR = 0.92,95 % CI: 0.72-1.17).
CONCLUSIONS
This study indicated that only the TLR2 rs5743708 polymorphism exhibited a significant association with a higher tuberculosis risk, while TLR2 rs3804099, rs3804100, rs1898830, rs121917864, and (-196-174) del polymorphisms were not associated with tuberculosis susceptibility.
Topics: Humans; Toll-Like Receptor 2; Genetic Predisposition to Disease; Polymorphism, Genetic; Tuberculosis; Polymorphism, Single Nucleotide
PubMed: 37883839
DOI: 10.1016/j.cyto.2023.156405 -
Biology of Sex Differences Jul 2023Premature birth and/or low birthweight have long-lasting effects on cognition. The purpose of the present systematic review is to examine whether the effects of... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Premature birth and/or low birthweight have long-lasting effects on cognition. The purpose of the present systematic review is to examine whether the effects of prematurity and/or low birth weight on neurodevelopmental outcomes differ between males and females.
METHODS
Web of Science, Scopus, and Ovid MEDLINE were searched for studies of humans born premature and/or of low birthweight, where neurodevelopmental phenotypes were measured at 1 year of age or older. Studies must have reported outcomes in such a way that it was possible to assess whether effects were greater in one sex than the other. Risk of bias was assessed using both the Newcastle-Ottawa scale and the National Institutes of Health Quality assessment tool for observational cohort and cross-sectional studies.
RESULTS
Seventy-five studies were included for descriptive synthesis, although only 24 presented data in a way that could be extracted for meta-analyses. Meta-analyses found that severe and moderate prematurity/low birthweight impaired cognitive function, and severe prematurity/low birthweight also increased internalizing problem scores. Moderate, but not severe, prematurity/low birthweight significantly increased externalizing problem scores. In no case did effects of prematurity/low birthweight differ between males and females. Heterogeneity among studies was generally high and significant, although age at assessment was not a significant moderator of effect. Descriptive synthesis did not identify an obvious excess or deficiency of male-biased or female-biased effects for any trait category. Individual study quality was generally good, and we found no evidence of publication bias.
CONCLUSIONS
We found no evidence that the sexes differ in their susceptibility to the effects of severe or moderate prematurity/low birthweight on cognitive function, internalizing traits or externalizing traits. Result heterogeneity tended to be high, but this reflects that one sex is not consistently more affected than the other. Frequently stated generalizations that one sex is more susceptible to prenatal adversity should be re-evaluated.
Topics: United States; Pregnancy; Female; Male; Humans; Infant, Newborn; Premature Birth; Sex Characteristics; Birth Weight; Cross-Sectional Studies; Infant, Low Birth Weight
PubMed: 37434174
DOI: 10.1186/s13293-023-00532-9