scholarly journals Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Anna Hwee Sing Heng ◽  
Yee-How Say ◽  
Yang Yie Sio ◽  
Yu Ting Ng ◽  
Fook Tim Chew

Abstract Background Multiple factors have been attributed to acne vulgaris predisposition and individual variations in the severity of skin symptoms, and genetics stood out as one of the major factors. Methods We performed a systematic review on the genes and their variants that have been investigated for association with acne presentation and severity. A random-effect meta-analysis using the allele model (minor allele vs. major allele) was also conducted to provide an overall estimation of risk effects of frequently reported gene variants. This included a subset data of 982 acne cases and 846 controls extracted from our existing GWAS database on various allergic and skin diseases among Singapore Chinese. Results Systematic review of 51 articles covering Asians and Caucasians found 60 genes/loci and their 100 variants implicated in acne; majority of them were in the intron, coding region/missense, and promoter regions. The commonly studied candidate genes/gene families include tumor necrosis factor (TNF), and the interleukin (IL) and cytochrome P450 (CYP) gene families. Our meta-analysis showed that most of the analyzed gene variants exhibited insignificant pooled odds ratio (pOR) and significant heterogeneity between studies. Nevertheless, we found that TNF rs1800629 A allele carriers and CYP17A1 rs743572 T allele carriers had significantly reduced mild acne risk [pOR: 0.60; 95% Confidence Interval (CI): 0.33–0.86] and severe acne risk (pOR: 0.59; 95% CI: 0.40–0.79), respectively, across populations. Overall, FST (follistatin) rs629725 A allele poses a significantly modest increased risk for acne presentation (pOR: 1.19, 95% CI: 1.14, 1.23), but neither TIMP2 (TIMP metallopeptidase inhibitor 2) rs8179090 nor CYP1A1 rs4646903 (pOR: 0.96, 95% CI: 0.80–1.12; pOR: 0.95, 95% CI: 0.83, 1.08), respectively. We discovered 15 novel SNPs in the 3′ UTR region of the Toll-like Receptor 4 gene (TLR4) associated with acne presentation. Conclusions This systematic review and meta-analysis suggest that genes influencing inflammatory responses, specifically TNF, and genes influencing the function and activity of sebaceous glands, specifically CYP17A1 and FST, have potential risk variants for acne presentation and severity across populations. Understanding the genetic susceptibility factors and biological pathways involved in the pathogenesis of acne will help us to gain insights into developing effective acne treatments.

Author(s):  
Peter Cox ◽  
Sonal Gupta ◽  
Sizheng Steven Zhao ◽  
David M. Hughes

AbstractThe aims of this systematic review and meta-analysis were to describe prevalence of cardiovascular disease in gout, compare these results with non-gout controls and consider whether there were differences according to geography. PubMed, Scopus and Web of Science were systematically searched for studies reporting prevalence of any cardiovascular disease in a gout population. Studies with non-representative sampling, where a cohort had been used in another study, small sample size (< 100) and where gout could not be distinguished from other rheumatic conditions were excluded, as were reviews, editorials and comments. Where possible meta-analysis was performed using random-effect models. Twenty-six studies comprising 949,773 gout patients were included in the review. Pooled prevalence estimates were calculated for five cardiovascular diseases: myocardial infarction (2.8%; 95% confidence interval (CI)s 1.6, 5.0), heart failure (8.7%; 95% CI 2.9, 23.8), venous thromboembolism (2.1%; 95% CI 1.2, 3.4), cerebrovascular accident (4.3%; 95% CI 1.8, 9.7) and hypertension (63.9%; 95% CI 24.5, 90.6). Sixteen studies reported comparisons with non-gout controls, illustrating an increased risk in the gout group across all cardiovascular diseases. There were no identifiable reliable patterns when analysing the results by country. Cardiovascular diseases are more prevalent in patients with gout and should prompt vigilance from clinicians to the need to assess and stratify cardiovascular risk. Future research is needed to investigate the link between gout, hyperuricaemia and increased cardiovascular risk and also to establish a more thorough picture of prevalence for less common cardiovascular diseases.


Author(s):  
Felix M. Onyije ◽  
Bayan Hosseini ◽  
Kayo Togawa ◽  
Joachim Schüz ◽  
Ann Olsson

Petroleum extraction and refining are major sources of various occupational exposures and of air pollution and may therefore contribute to the global cancer burden. This systematic review and meta-analysis is aimed at evaluating the cancer risk in petroleum-exposed workers and in residents living near petroleum facilities. Relevant studies were identified and retrieved through PubMed and Web of Science databases. Summary effect size (ES) and 95% confidence intervals (CI) were analysed using random effect models, and heterogeneity across studies was assessed (I2). Overall, petroleum industry work was associated with an increased risk of mesothelioma (ES = 2.09, CI: 1.58–2.76), skin melanoma (ES = 1.34, CI: 1.06–1.70 multiple myeloma (ES =1.81, CI: 1.28–2.55), and cancers of the prostate (ES = 1.13, Cl: 1.05–1.22) and urinary bladder (ES = 1.25, CI: 1.09–1.43) and a decreased risk of cancers of the esophagus, stomach, colon, rectum, and pancreas. Offshore petroleum work was associated with an increased risk of lung cancer (ES = 1.20; 95% CI: 1.03–1.39) and leukemia (ES = 1.47; 95% CI: 1.12–1.92) in stratified analysis. Residential proximity to petroleum facilities was associated with childhood leukemia (ES = 1.90, CI: 1.34–2.70). Very few studies examined specific exposures among petroleum industry workers or residents living in oil producing communities. The present review warrants further studies on specific exposure levels and pathways among petroleum-exposed workers and residents living near petroleum facilities.


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
I Giacchetta ◽  
M Chiavarini ◽  
G Naldini ◽  
R Fabiani

Abstract Background The probability of developing invasive cutaneous malignant melanoma (CMM) is higher in women than in men up until the age of 49. Several studies investigated the association between hormonal factors and CMM. The aim of this systematic review and meta-analysis is to summarize the evidence on the association between Oral Contraceptives (OC) and the risk of CMM. Methods This review and meta-analysis follow the PRISMA guidelines. A systematic literature search was conducted on Medline and Web of Science until December 2019. Studies were eligible if reported a risk estimate for the association between OC and CMM. Heterogeneity testing was performed using Cochran's Q and I2 statistics. Publication bias was assessed by Egger's test and Begg's test. Meta-analysis was performed using random effect model. Results The results of the pooled analysis of all 32 studies showed no significant association between OC and the risk of CMM (OR 1.02; 95% CI 0.94-1.11; I2=39.32%, p = 0.013). The stratified analyses by study design found no significant association between OC and the risk of CMM neither in the 18 case-control studies (OR 1.02; 95% CI 0.87-1.21; I2=56.91%, p = 0.002) nor in the 14 cohort studies (OR 1.04; 95% CI 0.98-1.11; I2=0.00%, p = 0.557). No significant publication bias could be detected by Egger's test or Begg's test. Conclusions This meta-analysis of available literature suggests no significant association between OC and the risk of developing CMM. Further investigations are needed to evaluate the possible relationship of OC use and other hormonal factors potentially contributing to the increased risk of CMM in women during their reproductive years. Key messages Oral contraceptives (OC) do not significantly contribute to the risk of Cutaneous Malignant Melanoma (CMM). Further studies are needed to investigate the potential role of other hormonal factors in the increased probability of developing CMM in women during their reproductive years.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
B Corica ◽  
G.F Romiti ◽  
V Raparelli ◽  
R Cangemi ◽  
S Basili ◽  
...  

Abstract Background Long-term anticoagulation in patients with atrial fibrillation (AF) imposes a careful balance between the thromboembolic and hemorrhagic risks. An association between cerebral microbleeds (CMBs) and an increased risk of intracranial hemorrhage (ICH) has already been described; however, conflicting evidence exist on the association with ischemic stroke (IS). Although CMBs are often observed in AF patients, the actual prevalence and the magnitude of the risk of adverse events in patients with CMBs is unclear. Purpose We aimed to estimate the pooled prevalence of CMBs in patients with AF through a systematic review and meta-analysis of the literature. Additionally, we evaluated the risk of ICH and IS according to the presence and burden of CMBs. Methods We perform a systematic search on PubMed and EMBASE from inception to 6th March 2021. We included all studies reporting the prevalence of CMBs, the incidence of ICH and/or IS in AF by presence of CMBs. Pooled prevalence and odds ratios (OR), along with their 95% Confidence Intervals (CI), were computed using random-effect models; we also calculated 95% Prediction Intervals (PI) for each outcome investigated. Additionally, we performed subgroup analyses according to the number and localization of CMBs. Results We retrieved 562 records from the literature search, and 17 studies were finally included. Pooled prevalence of CMBs in AF population was 28.3% (95% CI: 23.8%-33.4%; 95% PI: 12.2%-52.9%, Figure 1). Individuals with CMBs showed a higher risk of both ICH (OR: 3.04, 95% CI: 1.83–5.06) and IS (OR: 1.78, 95% CI: 1.26–2.49). Moreover, patients with more than 5 CMBs, as well as patients with both lobar and mixed CMBs, showed a higher risk of ICH. Conclusions CMBs were found in 28.3% of AF patients, with 95% PIs indicating a potentially higher prevalence. Moreover, CMBs were associated with an increased risk of both ICH and IS, with the effect potentially modulated by their number and localization. CMBs may represent an important and often overlooked risk factor for adverse outcomes in patients with AF. FUNDunding Acknowledgement Type of funding sources: None. Prevalence of CMBs in patients with AF


EP Europace ◽  
2021 ◽  
Vol 23 (Supplement_3) ◽  
Author(s):  
T Al Bahhawi ◽  
A Aqeeli ◽  
S L Harrison ◽  
D A Lane ◽  
I Buchan ◽  
...  

Abstract Funding Acknowledgements Type of funding sources: None. Background Pregnancy-related complications have been previously associated with incident cardiovascular disease. However, data are scarce on the association between pregnancy-related complications and incident atrial fibrillation (AF). This systematic review examines associations between pregnancy-related complications and incident AF. Methods A systematic search of the literature utilising MEDLINE and EMBASE (Ovid) was conducted from 1990 to 6 April 2020. Observational studies examining the association between pregnancy-related complications including hypertensive disorders of pregnancy (HDP), gestational diabetes, placental abruption, preterm birth, low birth weight, small-for-gestational-age and stillbirth, and incidence of AF were included. Screening and data extraction were conducted independently by two reviewers. Inverse-variance random-effects models were used to pool hazard ratios. Results: Six observational studies met the inclusion criteria one case-control study and five retrospective cohort studies, with four studies eligible for meta-analysis.  Sample sizes ranged from 1,839-1,303,365. Mean/median follow-up for the cohort studies ranged from 7-36 years. Most studies reported an increased risk of incident AF associated with pregnancy-related complications. The pooled summary statistic from four studies reflected a greater risk of incident AF for HDP (hazard ratio (HR) 1.47, 95% confidence intervals (CI) 1.18-1.84; I2 = 84%) and from three studies for pre-eclampsia (HR 1.71, 95% CI 1.41-2.06; I2 = 64%; Figure). Conclusions The results of this review suggest that pregnancy-related complications particularly pre-eclampsia appear to be associated with higher risk of incident AF. The small number of included studies and the significant heterogeneity in the pooled results suggest further large-scale prospective studies are required to confirm the association between pregnancy-related complications and AF. Abstract Figure.


2019 ◽  
Vol 12 ◽  
pp. 175628641983780 ◽  
Author(s):  
Luca Prosperini ◽  
Revere P. Kinkel ◽  
Augusto A. Miravalle ◽  
Pietro Iaffaldano ◽  
Simone Fantaccini

Background: Natalizumab (NTZ) is sometimes discontinued in patients with multiple sclerosis, mainly due to concerns about the risk of progressive multifocal leukoencephalopathy. However, NTZ interruption may result in recrudescence of disease activity. Objective: The objective of this study was to summarize the available evidence about NTZ discontinuation and to identify which patients will experience post-NTZ disease reactivation through meta-analysis of existing literature data. Methods: PubMed was searched for articles reporting the effects of NTZ withdrawal in adult patients (⩾18 years) with relapsing–remitting multiple sclerosis (RRMS). Definition of disease activity following NTZ discontinuation, proportion of patients who experienced post-NTZ disease reactivation, and timing to NTZ discontinuation to disease reactivation were systematically reviewed. A generic inverse variance with random effect was used to calculate the weighted effect of patients’ clinical characteristics on the risk of post-NTZ disease reactivation, defined as the occurrence of at least one relapse. Results: The original search identified 205 publications. Thirty-five articles were included in the systematic review. We found a high level of heterogeneity across studies in terms of sample size (10 to 1866 patients), baseline patient characteristics, follow up (1–24 months), outcome measures (clinical and/or radiological), and definition of post-NTZ disease reactivation or rebound. Clinical relapses were observed in 9–80% of patients and peaked at 4–7 months, whereas radiological disease activity was observed in 7–87% of patients starting at 6 weeks following NTZ discontinuation. The meta-analysis of six articles, yielding a total of 1183 patients, revealed that younger age, higher number of relapses and gadolinium-enhanced lesions before treatment start, and fewer NTZ infusions were associated with increased risk for post-NTZ disease reactivation ( p ⩽ 0.05). Conclusions: Results from the present review and meta-analysis can help to profile patients who are at greater risk of post-NTZ disease reactivation. However, potential reporting bias and variability in selected studies should be taken into account when interpreting our data.


2017 ◽  
Vol 41 (1) ◽  
pp. 102-108 ◽  
Author(s):  
M. Pérez-Piñar ◽  
L. Ayerbe ◽  
E. González ◽  
R. Mathur ◽  
Q. Foguet-Boreu ◽  
...  

AbstractBackgroundAnxiety disorders are the most common mental health problem worldwide. However, the evidence on the association between anxiety disorders and risk of stroke is limited. This systematic review and meta-analysis presents a critical appraisal and summary of the available evidence on the association between anxiety disorders and risk of stroke.MethodsCohort studies reporting risk of stroke among patients with anxiety disorders were searched in PubMed, Embase, PsycINFO, Scopus, and the Web of Science, from database inception to June 2016. The quality of the studies was assessed using standard criteria. A meta-analysis was undertaken to obtain pooled estimates of the risk of stroke among patients with anxiety disorders.ResultsEight studies, including 950,759 patients, from the 11,764 references initially identified, were included in this review. A significantly increased risk of stroke for patients with anxiety disorders was observed, with an overall hazard ratio: 1.24 (1.09–1.41), P = 0.001. No significant heterogeneity between studies was detected and the funnel plot suggested that publication bias was unlikely. Limited evidence suggests that the risk of stroke is increased shortly after the diagnosis of anxiety and that risk of stroke may be higher for patients with severe anxiety.ConclusionsAnxiety disorders are a very prevalent modifiable condition associated with risk of stroke increased by 24%. This evidence could inform the development of interventions for the management of anxiety and the prevention of stroke. Further studies on the risk of stroke in patients with anxiety, and the explanatory factors for this association, are required.


PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0257630
Author(s):  
Habtye Bisetegn ◽  
Hussien Ebrahim

Introduction Thrombocytopenia and leucopenia are frequently encountered hematological disorders among people living with HIV/AIDS. This systematic review and meta-analysis were aimed to indicate the national prevalence of thrombocytopenia and leucopenia among HIV/AIDS patients. Methods This systematic review and meta-analysis was conducted following the preferred reporting items for systematic review and meta-analysis (PRISMA) guidelines. A systematic search was conducted from February 01, 2021 to April 02, 2021 using electronic databases Google Scholar, PubMed, Web of Sciences, Google, EMBASE, SCOPUS and ResearchGate. The quality of the included studies was assessed using Newcastle—Ottawa Quality Assessment Scale (NOS) adapted for cross-sectional studies. Data analysis was done using STATA version 14 using metan commands. Random effect meta-analysis was used to estimate the pooled prevalence of thrombocytopenia and leucopenia among people living with HIV/AIDS in Ethiopia. Result Of the 349 initially searched articles, 90 were assessed for eligibility and only 13 articles published from 2014 to 2020 were included in the final meta-analysis. A total of 3854 participants were involved in the included studies. The pooled prevalence of thrombocytopenia was 9.69% (95%CI; 7.40–11.97%). Significant heterogeneity was observed with I2 value of 84.7%. Thrombocytopenia was 11.91% and 5.95% prevalent among HAART naive and HAART exposed HIV/AIDS patients, respectively. The pooled prevalence of leucopenia among HIV/AIDS patients was 17.31% (95%CI: 12.37–22.25%). Conclusion This study showed a high prevalence of thrombocytopenia and leucopenia among people living with HIV/AIDS, indicating the necessity of regular screening of HIV seropositive patients for different hematological parameters and providing treatment.


2019 ◽  
Author(s):  
Zhen Yee Chow ◽  
Soo Man Jun ◽  
Siew Mooi Ching ◽  
Chun Han Tan ◽  
Kai Wei Lee ◽  
...  

AbstractBackgroundHypertension is a common public health problem worldwide and is a well-known risk factor for increased risk of cardiovascular diseases, contributing to high morbidity and mortality. However, there is no systematic review and meta-analysis that has been done in a multi-ethnic population like Malaysia. This systematic review aims to determine the trend in prevalence, awareness and control of hypertension in Malaysia.MethodsSystematic searches were conducted in PubMed, Scopus, Ovid, Cumulative Index to Nursing and Allied Health Literature, Malaysian Medical Repository and Malaysia Citation Index published between 1980 and 2017. All original articles in English were included. Studies included were those on adults aged 18 years and above. Studies of prevalence in children and adolescents and pregnancy related hypertension were excluded. Two authors independently reviewed the studies, carried out data extraction and performed quality assessment. Heterogeneity between studies and publication bias was assessed and effect size was pooled by the random effect model.ResultsFifty-six studies with a total of 241,796 subjects were included. The prevalence of hypertension throughout Malaysia varied (I2= 99.3%). The overall pooled prevalence of hypertension over the past 4 decades was 28.2% in adults aged 18 years and older (95% CI: 26.1 – 33.3) and the prevalence in those 30 years and older was 40.0% (95% CI: 35.3-44.8).For subgroup analysis, the prevalence of hypertension in male aged 18 and above was 31.4% (95% CI: 26.5 - 36.2) and 27.8% in female (95% CI: 20.7 – 34.9). The prevalence of hypertension among the ethnic groups aged 18 years and above were 37.3% in Malays (95% CI: 32.9 – 41.7); 36.4% in Chinese (95% CI 31.6 - 41.2) and 34.8% in Indians (95% CI: 31.2-38.4). The prevalence of hypertension was the lowest in the 1980s (16.2%, 95% CI: 13.4-19.0%), increases up to 36.8% in the 1990s (95% CI: 6.1-67.5), then came down to 28.7% (95% CI: 21.7-35.8) in the 2000s and 29.2% (95% CI: 24.0-34.4) in the 2010s. The prevalence of awareness was 38.7% (95% CI: 31.7 – 45.8) whereas the control of hypertension of those on treatment was 33.3% (95% CI: 28.4 – 38.2).ConclusionThree in 10 adults aged 18 years old and above have hypertension, whereas four in 10 adults aged 30 years old and above have hypertension. Four out of 10 are aware of their hypertension status and only one-third of them who were under treatment achieved control of their hypertension. Concerted efforts by policymakers and healthcare professionals to improve the awareness and control of hypertension should be of high priority.


2019 ◽  
Vol 105 (4) ◽  
pp. 1000-1008 ◽  
Author(s):  
Yue Sun ◽  
Hao-Yu Gao ◽  
Zhi-Yuan Fan ◽  
Yan He ◽  
Yu-Xiang Yan

Abstract Objective Metabolic signatures have emerged as valuable signaling molecules in the biochemical process of type 2 diabetes (T2D). To summarize and identify metabolic biomarkers in T2D, we performed a systematic review and meta-analysis of the associations between metabolites and T2D using high-throughput metabolomics techniques. Methods We searched relevant studies from MEDLINE (PubMed), Embase, Web of Science, and Cochrane Library as well as Chinese databases (Wanfang, Vip, and CNKI) inception through 31 December 2018. Meta-analysis was conducted using STATA 14.0 under random effect. Besides, bioinformatic analysis was performed to explore molecule mechanism by MetaboAnalyst and R 3.5.2. Results Finally, 46 articles were included in this review on metabolites involved amino acids, acylcarnitines, lipids, carbohydrates, organic acids, and others. Results of meta-analysis in prospective studies indicated that isoleucine, leucine, valine, tyrosine, phenylalanine, glutamate, alanine, valerylcarnitine (C5), palmitoylcarnitine (C16), palmitic acid, and linoleic acid were associated with higher T2D risk. Conversely, serine, glutamine, and lysophosphatidylcholine C18:2 decreased risk of T2D. Arginine and glycine increased risk of T2D in the Western countries subgroup, and betaine was negatively correlated with T2D in nested case-control subgroup. In addition, slight improvements in T2D prediction beyond traditional risk factors were observed when adding these metabolites in predictive analysis. Pathway analysis identified 17 metabolic pathways may alter in the process of T2D and metabolite-related genes were also enriched in functions and pathways associated with T2D. Conclusions Several metabolites and metabolic pathways associated with T2D have been identified, which provide valuable biomarkers and novel targets for prevention and drug therapy.


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