-
Future Oncology (London, England) Jul 2022To perform a meta-analysis to assess the association between common polymorphisms (Fok1, Taq1, Apa1, Bsm1) and keratinocyte carcinomas (KCs) susceptibility. databases... (Meta-Analysis)
Meta-Analysis Review
To perform a meta-analysis to assess the association between common polymorphisms (Fok1, Taq1, Apa1, Bsm1) and keratinocyte carcinomas (KCs) susceptibility. databases were searched up to November 2021. Odds ratios (ORs) with 95% CIs were evaluated in the association. This meta-analysis included seven articles. KC (and its subtypes) risks are found to be associated with Fok1 (BCC: ff vs FF+Ff: OR = 2.13, 95% CI = 1.14-3.97; SCC: ff vs FF+Ff: OR = 1.54, 95% CI = 1.09-2.18) and Taq1 (BCC: Tt vs TT: OR = 1.99, 95% CI = 1.35-2.93; tt vs TT: OR = 2.09, 95% CI = 1.27-3.43; Tt +tt vs TT: OR = 2.02, 95% CI = 1.41-2.90) polymorphisms. This study suggests that the Fok1 f allele and the Taq1 t allele are associated with increased susceptibility to KC and its subtypes.
Topics: Alleles; Carcinoma; Genetic Predisposition to Disease; Humans; Keratinocytes; Polymorphism, Genetic; Receptors, Calcitriol
PubMed: 35786964
DOI: 10.2217/fon-2021-1632 -
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 -
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 -
Clinical Oral Investigations Feb 2022The aim of this study is to investigate the potential role of ANRIL polymorphisms in susceptibility to periodontitis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The aim of this study is to investigate the potential role of ANRIL polymorphisms in susceptibility to periodontitis.
METHODS
The authors searched Pubmed, Web of Science, and Scopus up to April 2021 to identify all published studies without any language restriction on the association between ANRIL and periodontitis. A meta-analysis of all ANRIL variants replicated by three or more studies was performed by testing multiple genetic models of association. Pooled odds ratios and 95% confidence intervals (CI) were used to estimate associations. Tests for sensitivity and publication bias were performed.
RESULTS
Twenty-two variants in the ANRIL gene were examined for their potential association with the risk of periodontitis. However, only 4 (rs1333048, rs1333042, rs2891168, rs496892) are replicated at least three or more studies. The ANRIL rs1333048 was the most replicated polymorphisms with five articles, seven different populations comprising of 1331 cases, and 2624 controls. The pooled overall analysis showed that rs1333048, rs1333042, rs2891168, and rs496892 polymorphisms were associated with susceptibility to periodontitis in the whole population in allele contrast and dominant models. Moreover, similar to the overall analysis, rs1333048 polymorphism showed a significant association with grade C periodontitis (known as aggressive periodontitis in 1999 classification) in allele contrast (OR = 1.16) and dominant models (1.19). Interestingly, subgroup analysis also showed rs1333048 polymorphism might influence predisposition to a slowly progressive form of periodontitis (known as chronic periodontitis in 1999 classification).
CONCLUSION
Our findings suggest that the ANRIL rs1333048, rs1333042, rs2891168, and rs496892 polymorphisms might influence predisposition to periodontitis, particularly in Caucasians.
CLINICAL SIGNIFICANCE
ANRIL gene may represent a potential risk marker for periodontitis.
Topics: Aggressive Periodontitis; Alleles; Chronic Periodontitis; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; White People
PubMed: 34821979
DOI: 10.1007/s00784-021-04257-0 -
Cells Dec 2019The age-related decline in skeletal muscle mass, strength and function known as 'sarcopenia' is associated with multiple adverse health outcomes, including... (Review)
Review
The age-related decline in skeletal muscle mass, strength and function known as 'sarcopenia' is associated with multiple adverse health outcomes, including cardiovascular disease, stroke, functional disability and mortality. While skeletal muscle properties are known to be highly heritable, evidence regarding the specific genes underpinning this heritability is currently inconclusive. This review aimed to identify genetic variants known to be associated with muscle phenotypes relevant to sarcopenia. PubMed, Embase and Web of Science were systematically searched (from January 2004 to March 2019) using pre-defined search terms such as "aging", "sarcopenia", "skeletal muscle", "muscle strength" and "genetic association". Candidate gene association studies and genome wide association studies that examined the genetic association with muscle phenotypes in non-institutionalised adults aged ≥50 years were included. Fifty-four studies were included in the final analysis. Twenty-six genes and 88 DNA polymorphisms were analysed across the 54 studies. The , and genes were the most frequently studied, although the , , , and genes were also shown to be significantly associated with muscle phenotypes in two or more studies. Ten DNA polymorphisms (rs154410, rs2228570, rs1800169, rs3093059, rs1800629, rs1815739, rs1799752, rs7412, rs429358 and 192 bp allele) were significantly associated with muscle phenotypes in two or more studies. Through the identification of key gene variants, this review furthers the elucidation of genetic associations with muscle phenotypes associated with sarcopenia.
Topics: Aged; Aged, 80 and over; Female; Gene Regulatory Networks; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Sarcopenia
PubMed: 31861518
DOI: 10.3390/cells9010012 -
Frontiers in Cardiovascular Medicine 2022Recent studies have shown that the 4G/5G insertion/deletion variant of (rs1799889) is closely linked to coronary artery disease (CAD). This study aims to clarify the...
BACKGROUND
Recent studies have shown that the 4G/5G insertion/deletion variant of (rs1799889) is closely linked to coronary artery disease (CAD). This study aims to clarify the effects of the rs1799889 variant on lipid levels and to insight into the mechanisms underlying the rs1799889 variant and CAD.
METHODS AND RESULTS
By searching PubMed and the Cochrane databases for studies published before 31 October 2021, 40 studies conducted on a total of 13,117 subjects were included for the analysis. The consistent findings for the effects of the 5G allele of rs1799889 variant on lipid metabolism were the significantly decreased triglycerides (TG) [standardized mean difference (SMD) = -0.12, 95% CI = -0.21 to 0.03, = 0.01], total cholesterol (TC) (SMD = -0.12, 95% CI = -0.17 to 0.06, < 0.001), and low-density lipoprotein cholesterol (LDL-C) (SMD = -0.13, 95% CI = -0.23 to 0.03, = 0.01) levels. Intriguingly, the significant effects of the rs1799889 variant on LDL-C (SMD = -0.15, 95% CI = -0.26 to 0.05, < 0.01) and TC (SMD = -0.17, 95% CI = -0.27 to 0.07, < 0.01) levels were primarily observed in the Asian population. However, the significant effect of the rs1799889 variant on high-density lipoprotein cholesterol (HDL-C) (SMD = 0.26, 95% CI = 0.03-0.48, = 0.03) levels was detected only in female subjects.
CONCLUSION
The rs1799889 variant of is a protective genetic factor against CAD, the Asian population with the 5G allele of the rs1799889 variant may have a reduced CAD risk.
PubMed: 35811710
DOI: 10.3389/fcvm.2022.859979 -
PLoS Neglected Tropical Diseases Apr 2020Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the...
Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the infecting organism known as grains. Risk factors conferring susceptibility to mycetoma include environmental factors and pathogen factors such as virulence and the infecting dose, in addition to host factors such as immunological and genetic predisposition. Epidemiological evidence suggests that host genetic factors may regulate susceptibility to mycetoma and other fungal infections, but they are likely to be complex genetic traits in which multiple genes interact with each other and environmental factors, as well as the pathogen, to cause disease. This paper reviews what is known about genetic predisposition to fungal infections that might be relevant to mycetoma, as well as all studies carried out to explore host genetic susceptibility to mycetoma. Most studies were investigating polymorphisms in candidate genes related to the host immune response. A total of 13 genes had allelic variants found to be associated with mycetoma, and these genes lie in different pathways and systems such as innate and adaptive immune systems, sex hormone biosynthesis, and some genes coding for host enzymes. None of these studies have been replicated. Advances in genomic science and the supporting technology have paved the way for large-scale genome-wide association and next generation sequencing (NGS) studies, underpinning a new strategy to systematically interrogate the genome for variants associated with mycetoma. Dissecting the contribution of host genetic variation to susceptibility to mycetoma will enable the identification of pathways that are potential targets for new treatments for mycetoma and will also enhance the ability to stratify 'at-risk' individuals, allowing the possibility of developing preventive and personalised clinical care strategies in the future.
Topics: Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Immunologic Factors; Male; Mycetoma; Polymorphism, Genetic; Risk Factors
PubMed: 32352976
DOI: 10.1371/journal.pntd.0008053 -
Malaria Journal Nov 2022This review article aims to investigate the genotypic profiles of Plasmodium falciparum and Plasmodium vivax isolates collected across a wide geographic region and their... (Review)
Review
This review article aims to investigate the genotypic profiles of Plasmodium falciparum and Plasmodium vivax isolates collected across a wide geographic region and their association with resistance to anti-malarial drugs used in Indonesia. A systematic review was conducted between 1991 and date. Search engines, such as PubMed, Science Direct, and Google Scholar, were used for articles published in English and Indonesian to search the literature. Of the 471 initially identified studies, 61 were selected for 4316 P. falciparum and 1950 P. vivax individual infections. The studies included 23 molecular studies and 38 therapeutic efficacy studies. K76T was the most common pfcrt mutation. K76N (2.1%) was associated with the haplotype CVMNN. By following dihydroartemisinin-piperaquine (DHA-PPQ) therapy, the mutant pfmdr1 alleles 86Y and 1034C were selected. Low prevalence of haplotype N86Y/Y184/D1246Y pfmdr1 reduces susceptibility to AS-AQ. SNP mutation pvmdr1 Y976F reached 96.1% in Papua and East Nusa Tenggara. Polymorphism analysis in the pfdhfr gene revealed 94/111 (84.7%) double mutants S108N/C59R or S108T/A16V in Central Java. The predominant pfdhfr haplotypes (based on alleles 16, 51, 59,108, 164) found in Indonesia were ANCNI, ANCSI, ANRNI, and ANRNL. Some isolates carried A437G (35.3%) or A437G/K540E SNPs (26.5%) in pfdhps. Two novel pfdhps mutant alleles, I588F/G and K540T, were associated with six pfdhps haplotypes. The highest prevalence of pvdhfr quadruple mutation (F57L/S58R/T61M/S117T) (61.8%) was detected in Papua. In pvdhps, the only polymorphism before and after 2008 was 383G mutation with 19% prevalence. There were no mutations in the pfk13 gene reported with validated and candidate or associated k13 mutation. An increased copy number of pfpm2, associated with piperaquine resistance, was found only in cases of reinfection. Meanwhile, mutation of pvk12 and pvpm4 I165V is unlikely associated with ART and PPQ drug resistance. DHA-PPQ is still effective in treating uncomplicated falciparum and vivax malaria. Serious consideration should be given to interrupt local malaria transmission and dynamic patterns of resistance to anti-malarial drugs to modify chemotherapeutic policy treatment strategies. The presence of several changes in pfk13 in the parasite population is of concern and highlights the importance of further evaluation of parasitic ART susceptibility in Indonesia.
Topics: Plasmodium vivax; Plasmodium falciparum; Indonesia; Antimalarials; Artemisinins; Polymorphism, Single Nucleotide; Drug Resistance
PubMed: 36443817
DOI: 10.1186/s12936-022-04385-2 -
Caspian Journal of Internal Medicine 2023In the pathogenesis of inflammatory bowel disease (IBD), the advanced glycation end product receptor (RAGE) has been involved. IBD is classified into Chron's disease... (Review)
Review
A systematic review and meta-analysis of the relationship between advanced glycation end products ceceptor (RAGE) gene polymorphisms and the risk of inflammatory bowel disease.
BACKGROUND
In the pathogenesis of inflammatory bowel disease (IBD), the advanced glycation end product receptor (RAGE) has been involved. IBD is classified into Chron's disease (CD) and ulcerative colitis (UC). The promoter gene of the RAGE gene was discovered to have had unique polymorphisms that increased its transcriptional activity. This study, therefore, used a systematic review and meta-analysis to examine the relationship between the RAGE gene polymorphism and the risk of IBD.
METHODS
Databases such as PubMed, Scopus, and Cochrane library were searched to identify the relationship between RAGE gene polymorphisms and IBD susceptibility. We identified three Single Nucleotide Polymorphism (SNPs) (RAGE-429T/C, 374T/A, and G82S). The data were analyzed by RevMan 5.4.
RESULTS
Four studies (932 cases/1366 controls) were included. The findings showed no relationship between RAGE -429T/C and -G82S polymorphisms and the risk of IBD in all genetic models significantly. TT genotype of RAGE -374T/A polymorphisms was related to increased CD risk (OR=1.37; 95%CI=1.04-1.81; P=0.02), while TA genotype was determined to be a protective factor (OR=0.75; 95%CI=0.57-0.99; P=0.04). In UC, A allele of RAGE -374T/A was related to increase risk (OR=1.26; 95%CI=1.04-1.53; P=0.02), while T allele was determined to decrease risk (OR=0.79; 95%CI= 0.65-0.96; P=0.02).
CONCLUSIONS
Our findings demonstrated that TT genotype and A allele of RAGE -374T/A polymorphisms were related to CD and UC risks, respectively, while the TA genotype and T allele possibly had a protective effect. RAGE -429T/C and RAGE -G82S polymorphisms were not related to increased IBD risk.
PubMed: 37520885
DOI: 10.22088/cjim.14.3.41 -
Nature and Science of Sleep 2021Obstructive sleep apnea (OSA) is a highly prevalent disease with substantial public health burden. In most of the cases, there is a genetic predisposition to OSA.... (Review)
Review
Polymorphism of the Serotonin Transporter Gene and the Peripheral 5-Hydroxytryptamine in Obstructive Sleep Apnea: What Do We Know and What are We Looking for? A Systematic Review of the Literature.
BACKGROUND
Obstructive sleep apnea (OSA) is a highly prevalent disease with substantial public health burden. In most of the cases, there is a genetic predisposition to OSA. Serotonin/T-HydroxyTriptamine (5-HT) plays a key role in ventilatory stimulation, while the polymorphism of the serotonin transporter gene (STG) leads to alterations in serotonin level, making it important in OSA.
OBJECTIVE
To examine whether the 5-HydroxyTriptamine and the genetic predisposition influence the incidence and evolution of OSA, we reviewed randomized, controlled trials and observational studies on the selected topic. The secondary objective was to determine the metabolic effects of the circulating serotonin in other tissues (liver, pancreas, gut, brown adipose tissue, and white adipose tissue) and its role in the development of obesity.
DATA SOURCES
A systematic review of English articles was performed based on PubMed and the Cochrane Library databases. Search filters included randomized controlled trial, controlled clinical trial, random allocation, double-blind method, and case-control studies and used the following keywords: Brain Serotonin OR Serotonin Transporter Gene Polymorphism OR Peripheral 5-HydroxyTryptamine AND Obstructive Sleep Apnea OR Sleep Disorder Breathing OR brain serotonin AND OSA OR serotonin transporter gene OR Peripheral 5-Hydroxytryptamine AND Sleep.
STUDY ELIGIBILITY CRITERIA
The inclusion criteria for the current review were previous diagnosis of OSA, age above 18 years, and articles including quantitative data about serotonin transporter gene or peripheral serotonin. Language and time criteria were added - English articles published in the last 15 years. Studies that were not included were reviews and case reports.
STUDY APPRAISAL AND SYNTHESIS METHODS
In order to study the serotonin function, a literature research was conducted in the databases Pubmed and Cochrane Library. The following search terms were used: serotonin, 5-hydroxytryptamine, serotonin transporter gene. A critical appraisal of the included studies was performed with the Newcastle-Ottawa scale (NOS) and Delphi list.
RESULTS
The search yielded 1210 articles, from which 43 were included. The included studies suggest that the two polymorphisms of serotonin transporter gene (5HTT) - variable number of tandem repeats (VNTR) and linked polymorphic region (LPR) - are strong candidates in the pathogenesis of OSA. The allele 10 of 5HTTVNTR and the long/long (L/L) allele genotype were associated with a higher prevalence of OSA and the L allele with a higher apnea-hypopnea index and a longer time during sleep with oxygen desaturation.
LIMITATIONS
The main limitation of the present study consists of heterogeneity of the information. Being a less studied subject, randomized trials are not widely available and most data were obtained from case-control trials. Moreover, the included material indirectly approached the subject by demonstrating the effects of serotoninergic system over the metabolism, the connection between serotonin and obesity, factors which are implied in the pathogenesis of OSA.
CONCLUSION AND IMPLICATIONS OF KEY FINDINGS
The two polymorphisms of serotonin gene can be considered important factors in the diagnosis and management of OSA.
PubMed: 33603523
DOI: 10.2147/NSS.S278170