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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 -
Pharmacogenetics and Genomics Jul 2014Several single-nucleotide polymorphisms (SNPs) in the catechol-O-methyltransferase (COMT) gene have been associated with the risk of developing Parkinson's disease (PD).... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND/AIMS
Several single-nucleotide polymorphisms (SNPs) in the catechol-O-methyltransferase (COMT) gene have been associated with the risk of developing Parkinson's disease (PD). We conducted a systematic review and a meta-analysis including all the studies published on PD risk related with COMT SNPs (mainly rs4680). We also reviewed the possible relationship of COMT SNPs with clinical, neuropharmacological, neurochemical, and neuroimaging features of PD.
MATERIALS AND METHODS
The systematic review was conducted using several databases. Meta-analysis of the eligible studies was carried out using the software Meta-Disc 1.1.1. Heterogeneity between studies was tested using the Q-statistic.
RESULTS
The meta-analysis included 24 association studies for the COMT rs4680 SNP (9719 PD patients, 14 634 controls) and the risk for PD. The frequency of allele positivity showed a significant association between rs4680 and the risk for PD in the total series, as well as homozygosity for the low-activity allele in the Asiatic population (these associations were marginal or disappeared when studies on Hardy-Weinberg disequilibrium were not considered). Global diagnostic odds ratios (95% confidence intervals) for rs4680 were 0.99 (0.94-1.04) for the total group, 0.99 (0.93-1.05) for White, and 1.05 (0.90-1.22) for Asiatic individuals. COMT genotypes could be related with a modest modification in the age at onset of PD, but its possible genotypes in excessive daytime somnolence, impulse control disorders, cognitive impairment, and neuropharmacological or neurochemical variables are unclear.
CONCLUSION
The results of the meta-analysis suggest that the COMT rs4680 polymorphism is not a major determinant of either the risk for PD or clinical, neuropharmacological and neurochemical features of PD. Data on other COMT polymorphisms are scarce but do not suggest association with PD.
Topics: Alleles; Asian People; Catechol O-Methyltransferase; Confidence Intervals; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Models, Genetic; Odds Ratio; Parkinson Disease; Polymorphism, Single Nucleotide; Risk Factors; White People
PubMed: 24819480
DOI: 10.1097/FPC.0000000000000056 -
BMJ (Clinical Research Ed.) Sep 2016To assess the effect of the FTO genotype on weight loss after dietary, physical activity, or drug based interventions in randomised controlled trials. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To assess the effect of the FTO genotype on weight loss after dietary, physical activity, or drug based interventions in randomised controlled trials.
DESIGN
Systematic review and random effects meta-analysis of individual participant data from randomised controlled trials.
DATA SOURCES
Ovid Medline, Scopus, Embase, and Cochrane from inception to November 2015.
ELIGIBILITY CRITERIA FOR STUDY SELECTION
Randomised controlled trials in overweight or obese adults reporting reduction in body mass index, body weight, or waist circumference by FTO genotype (rs9939609 or a proxy) after dietary, physical activity, or drug based interventions. Gene by treatment interaction models were fitted to individual participant data from all studies included in this review, using allele dose coding for genetic effects and a common set of covariates. Study level interactions were combined using random effect models. Metaregression and subgroup analysis were used to assess sources of study heterogeneity.
RESULTS
We identified eight eligible randomised controlled trials for the systematic review and meta-analysis (n=9563). Overall, differential changes in body mass index, body weight, and waist circumference in response to weight loss intervention were not significantly different between FTO genotypes. Sensitivity analyses indicated that differential changes in body mass index, body weight, and waist circumference by FTO genotype did not differ by intervention type, intervention length, ethnicity, sample size, sex, and baseline body mass index and age category.
CONCLUSIONS
We have observed that carriage of the FTO minor allele was not associated with differential change in adiposity after weight loss interventions. These findings show that individuals carrying the minor allele respond equally well to dietary, physical activity, or drug based weight loss interventions and thus genetic predisposition to obesity associated with the FTO minor allele can be at least partly counteracted through such interventions.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42015015969.
Topics: Adiposity; Alleles; Alpha-Ketoglutarate-Dependent Dioxygenase FTO; Genetic Predisposition to Disease; Genotype; Humans; Obesity; Randomized Controlled Trials as Topic; Weight Loss
PubMed: 27650503
DOI: 10.1136/bmj.i4707 -
Medicine Aug 2018Published studies have reported conflicting and heterogeneous results regarding the association between human leukocyte antigen (HLA)-DRB1 polymorphisms and alopecia... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Published studies have reported conflicting and heterogeneous results regarding the association between human leukocyte antigen (HLA)-DRB1 polymorphisms and alopecia areata (AA). This study aimed to review and quantitatively analyze the association between HLA-DRB1 polymorphisms and AA.
METHODS
In this study, all relevant publications were searched through December 2016. Odds ratios (ORs) and confidence intervals (CIs) for comparisons between case and control groups were calculated. Stata 14.0 software was used to perform statistical analysis. This research does not require formal ethical approval because the data used in this analysis do not involve personal information and thus do not affect privacy.
RESULTS
Twelve articles were identified. For HLA-DRB1*04 and HLA-DRB1*16 polymorphisms, the OR (95% CIs) was 1.49 (1.24-1.78) and 1.61 (1.08-2.41), and P was <.01 and <.01, respectively. For HLA-DRB1*0301, HLA-DRB1*09, and HLA-DRB1*13 polymorphisms, the OR (95% CIs) was 0.42 (0.28-0.63), 0.74 (0.55-0.99), and 0.62 (0.40-0.98), and P was <.01, <.01, and <.01, respectively. Statistical evidence revealed no publication bias (P > .05).
CONCLUSION
The present meta-analysis suggested that HLA-DRB1*04 and HLA-DRB1*16 polymorphisms might be associated with increased AA risk, while HLA-DRB1*0301, HLA-DRB1*09, and HLA-DRB1*13 polymorphisms might decrease the AA risk. Studies with adequate methodological quality on gene-gene and gene-environment interactions are needed to validate the results in the future.
Topics: Alleles; Alopecia Areata; Case-Control Studies; Genetic Predisposition to Disease; HLA-DRB1 Chains; Humans; Odds Ratio; Polymorphism, Single Nucleotide
PubMed: 30095639
DOI: 10.1097/MD.0000000000011790 -
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 -
Clinical Genetics Feb 2017The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were... (Meta-Analysis)
Meta-Analysis Review
The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genetic polymorphisms that were suspected to be involved in RM, and discussed potential genetic biomarkers of RM. Eligible articles were identified in PubMed, Medline, Embase and CNKI. Odd ratios (ORs) and 95% confidence intervals (CIs) were used to describe the strength of association, and a probability value (p value) of 0.05 or less was considered as statistically significant. A total of 425 eligible articles were included in this systematic review and 369 articles evaluating 124 polymorphisms of 73 genes were meta-analyzed. Significant associations were found between RM and 53 genetic polymorphisms of 37 genes. Our findings suggest that genetic variants of HLA-G, IFNG, TNF, IL-6, IL-10, FII, FV, FXIII, ITGB3, MTR, MTHFR, PAI-1, NOS3, KDR, TP53, VEGFA, CYP17, CYP1A1, CYP2D6, ANXA5, and XCI may serve as biological markers of RM. This study indicates that over-active immunological responses, thrombophilia, abnormal placental function, and disturbance of metabolic regulation may be implicated in the pathogenesis of RM.
Topics: Abortion, Habitual; Alleles; Biomarkers; Female; Genetic Predisposition to Disease; Genotype; Humans; Maternal Inheritance; Polymorphism, Genetic; Pregnancy
PubMed: 27792840
DOI: 10.1111/cge.12910 -
American Journal of Medical Genetics.... Sep 2008The serotonin transporter gene (5-HTT) plays a crucial role in serotonergic neurotransmission and has been found to be associated, with varying degrees of significance,... (Meta-Analysis)
Meta-Analysis Review
The serotonin transporter gene (5-HTT) plays a crucial role in serotonergic neurotransmission and has been found to be associated, with varying degrees of significance, with many diseases, including autism. Prior association studies of autism have yielded conflicting results regarding the association between two common 5-HTT polymorphisms, the promoter insertion/deletion (5-HTTLPR) and the intron 2 VNTR (STin2 VNTR). We conducted a systematic review and meta-analysis to test the following hypotheses: (i) there is an association between autism and either or both of the 5-HTTLPR and STin2 VNTR polymorphisms, and (ii) the S allele of 5-HTTLPR and/or the STin2.12 allele of the VNTR are the specific risk alleles for autism. All published family-based and population based studies were examined to determine the overall strength of association between 5-HTT polymorphisms and autism. After exclusion of studies with overlapping samples and studies whose data did not allow for calculation of an odds ratio, 16 studies were included for final analyses, all but two of which used a family-based design. The meta-analysis failed to find a significant overall association between either of the 5-HTT polymorphisms examined and autism. Further, no allelic transmission distortion was found when studies of simplex (11 studies) and multiplex (3 studies) family samples were analyzed separately. However, there was significant heterogeneity by ethnicity; family based studies of US mixed population samples showed preferential transmission of the S allele of 5-HTTLPR (S allele:L allele = 247:183), while there was no allelic distortion among the family-based studies of European and Asian samples.
Topics: Autistic Disorder; DNA Mutational Analysis; Gene Frequency; Haplotypes; Humans; Polymorphism, Genetic; Serotonin Plasma Membrane Transport Proteins
PubMed: 18286633
DOI: 10.1002/ajmg.b.30720 -
BMC Medical Genetics Sep 2011Despite some studies suggesting a possible association between human leukocyte antigen, HLA-B*5801 and allopurinol induced Stevens-Johnson Syndrome (SJS) and Toxic... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Despite some studies suggesting a possible association between human leukocyte antigen, HLA-B*5801 and allopurinol induced Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN), the evidence of association and its magnitude remain inconclusive. This study aims to systematically review and meta-analyze the association between HLA-B*5801 allele and allopurinol-induced SJS/TEN.
METHODS
A comprehensive search was performed in databases including MEDLINE, Pre-MEDLINE, Cochrane Library, EMBASE, International Pharmaceutical Abstracts (IPA), CINAHL, PsychInfo, the WHO International, Clinical Trial Registry, and ClinicalTrial.gov from their inceptions to June 2011. Only studies investigating association between HLA-B*5801 with allopurinol-induced SJS/TEN were included. All studies were extracted by two independent authors. The primary analysis was the carrier frequency of HLA-B*5801 comparison between allopurinol-induced SJS/TEN cases and each comparative group. The pooled odds ratios were calculated using a random effect model.
RESULTS
A total of 4 studies with 55 SJS/TEN cases and 678 matched-controls (allopurinol-tolerant control) was identified, while 5 studies with 69 SJS/TEN cases and 3378 population-controls (general population) were found. SJS/TEN cases were found to be significantly associated with HLA-B*5801 allele in both groups of studies with matched-control (OR 96.60, 95%CI 24.49-381.00, p < 0.001) and population-control (OR 79.28, 95%CI 41.51-151.35, p < 0.001). Subgroup analysis for Asian and Non-Asian population yielded similar findings.
CONCLUSION
We found a strong and significant association between HLA-B*5801 and allopurinol-induced SJS/TEN. Therefore, HLA-B*5801 allele screening may be considered in patients who will be treated with allopurinol.
Topics: Adult; Aged; Aged, 80 and over; Alleles; Allopurinol; Case-Control Studies; Female; Genotype; HLA-B Antigens; Heterozygote; Humans; Male; Middle Aged; Odds Ratio; Stevens-Johnson Syndrome
PubMed: 21906289
DOI: 10.1186/1471-2350-12-118 -
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 -
Human Immunology May 2015The aim of this meta-analysis was to evaluate whether specific maternal HLA alleles and HLA sharing of couples are associated with the occurrence of recurrent... (Meta-Analysis)
Meta-Analysis Review
PROBLEM
The aim of this meta-analysis was to evaluate whether specific maternal HLA alleles and HLA sharing of couples are associated with the occurrence of recurrent miscarriage (RM).
METHOD OF STUDY
A systematic literature search was performed for studies that evaluated the association between HLA alleles, HLA sharing and RM. RM was defined as three or more consecutive unexplained miscarriages and a control group was included of women with at least one live birth and no miscarriages in their history. Meta-analyses were performed and the pooled odds ratio (OR) was calculated.
RESULTS
We included 41 studies. Selection bias was present in 40 studies and information bias in all studies. Meta-analyses showed an increased risk of RM in mothers carrying a HLA-DRB1*4 (OR 1.41, 95% CI 1.05-1.90), HLA-DRB1*15 (OR 1.57, 95% CI 1.15-2.14), or a HLA-E*01:01 allele (OR 1.47, 95% CI 0.20-1.81), and a decreased risk with HLA-DRB1*13 (OR 0.63, 95% CI 0.45-0.89) or HLA-DRB1*14 (OR 0.54, 95% CI 0.31-0.94). Pooling results for HLA sharing showed that HLA-B sharing (OR 1.39, 95% CI 1.11-1.75) and HLA-DR sharing (OR 1.57, 95% CI 1.10-1.25) were both associated with the occurrence of RM.
CONCLUSION
Although the present systematic review and meta-analysis demonstrates that specific HLA alleles and HLA sharing are associated with RM, a high degree of bias was present and therefore observed results should be interpreted carefully.
Topics: Abortion, Habitual; Alleles; Female; Genetic Association Studies; HLA-B Antigens; HLA-DRB1 Chains; Histocompatibility; Histocompatibility Antigens Class I; Humans; Pregnancy; Risk; Selection Bias; HLA-E Antigens
PubMed: 25700963
DOI: 10.1016/j.humimm.2015.02.004