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Cytokine Jan 2024Endothelial nitric oxide (NO) produced by endothelial Nitric Oxide Synthase (eNOS) can promote the expression of pro-angiogenic cytokines and is favorable for... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Endothelial nitric oxide (NO) produced by endothelial Nitric Oxide Synthase (eNOS) can promote the expression of pro-angiogenic cytokines and is favorable for angiogenesis. However, the relationship between NOS3 gene polymorphisms and genetic susceptibility to congenital heart disease (CHD) was still unclear.
METHODS
We searched five databases including Pubmed, Cochrane Library, Embase, Web of Science, CNKI, and Wan Fang, to find all studies on NOS3 gene polymorphisms and CHD. Rstudio was used to merge the data included in the study to obtain OR, 95%CI, and forest plots.
RESULTS
Five relevant literatures were included, including three sites of NOS3 gene, rs1799983 (G894T), rs2070744 (T-786C), and rs7830 (G10T). Several models including the homozygous model of rs1799983 (G894T) gene polymorphism (TT VS GG: OR = 1.602, 95%CI: 1.098 ∼ 2.337, P = 0.027), rs7830 (G10T) gene polymorphism allele model (A VS C: OR = 1.171, 95%CI: 1.029 ∼ 1.333, P = 0.017), homozygous model (AA VS CC: OR = 1.474, 95%CI: 1.122 ∼ 1.936, P = 0.005) and implicit model (AA VS CC + AC: OR = 1.451, 95%CI: 1.133 ∼ 1.859, P = 0.003) indicated that there was a correlation. The results of the combined analysis of each gene model of rs2070744 (T-786C) gene polymorphism sites were not statistically significant, and their P values were all>0.05.
CONCLUSION
rs1799983 (G894T) and rs7830 (G10T) polymorphic sites might play a role in the susceptibility of sporadic congenital heart disease and increase the risk of CHD. Yet, it is still necessary to expand the sample size and conduct more prospective/retrospective studies to confirm whether the rs2070744 (T-786C) polymorphism tended to increase the incidence of CHD.
Topics: Humans; Nitric Oxide Synthase Type III; Retrospective Studies; Prospective Studies; Polymorphism, Genetic; Genetic Predisposition to Disease; Case-Control Studies; Heart Defects, Congenital; Polymorphism, Single Nucleotide; Genotype
PubMed: 37952311
DOI: 10.1016/j.cyto.2023.156415 -
PloS One 2015Studies investigating the influence of toll-like receptor (TLR) polymorphisms and tuberculosis susceptibility have yielded varying and often contradictory results in... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Studies investigating the influence of toll-like receptor (TLR) polymorphisms and tuberculosis susceptibility have yielded varying and often contradictory results in different ethnic groups. A meta-analysis was conducted to investigate the relationship between TLR variants and susceptibility to tuberculosis, both across and within specific ethnic groups.
METHODS
An extensive database search was performed for studies investigating the relationship between TLR and tuberculosis (TB) susceptibility. Data was subsequently extracted from included studies and statistically analysed.
RESULTS
32 articles involving 18907 individuals were included in this meta-analysis, and data was extracted for 14 TLR polymorphisms. Various genetic models were employed. An increased risk of TB was found for individuals with the TLR2 rs3804100 CC and the TLR9 rs352139 GA and GG genotypes, while decreased risk was identified for those with the AG genotype of TLR1 rs4833095. The T allele of TLR6 rs5743810 conferred protection across all ethnic groups. TLR2 rs5743708 subgroup analysis identified the A allele to increase susceptibility to TB in the Asian ethnic group, while conferring protection in the Hispanic group. The T allele of TLR4 rs4986791 was also found to increase the risk of TB in the Asian subgroup. All other TLR gene variants investigated were not found to be associated with TB in this meta-analysis.
DISCUSSION
Although general associations were identified, most TLR variants showed no significant association with TB, indicating that additional studies investigating a wider range of pattern recognition receptors is required to gain a better understanding of this complex disease.
Topics: Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Toll-Like Receptors; Tuberculosis
PubMed: 26430737
DOI: 10.1371/journal.pone.0139711 -
Annals of Human Genetics Jul 2022The circadian locomotor output cycles kaput (CLOCK) gene and the alcohol dehydrogenase 4 (ADH4) gene are promising candidates for susceptibility to cluster headaches... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The circadian locomotor output cycles kaput (CLOCK) gene and the alcohol dehydrogenase 4 (ADH4) gene are promising candidates for susceptibility to cluster headaches (CH). Associations of the three single nucleotide polymorphisms (SNPs)-CLOCK SNP rs1801260 and ADH4 SNPs rs1800759, and rs1126671-with CH were studied previously, but the results were inconsistent.
METHODS
Associations between the three SNPs (rs1801260, rs1126671, and rs1800759) and CH risk were separately assessed by pooled odds ratios (ORs) along with 95% confidence intervals (95% CIs) based on five different genetic models. Methodological quality was assessed using the Newcastle-Ottawa Quality Assessment Scale (NOS). All statistical analyses were carried out with RevMan 5.3 software.
RESULTS
Eight studies involving 1437 CH patients and 2541 healthy controls were selected for quantitative synthesis, from five studies on CLOCK rs1801260, five on ADH4 rs1800759, and three on ADH4 rs1126671. Our pooled data did not support associations between the three SNPs (rs1801260 in the CLOCK gene, rs1800759 and rs1126671 in the ADH4 gene) and susceptibility to CH (rs1801260: OR 1.10, 95% CI: 0.95-1.28; p = 0.19; rs1800759: OR 1.06, 95% CI: 0.93-1.22; p = 0.37; and rs1126671: OR 1.09, 95% CI: 0.92-1.28; p = 0.32).
CONCLUSION
We found no significant associations between the three SNPs (rs1801260 in the CLOCK gene and rs1800759 and rs1126671 in the ADH4 gene) and the susceptibility to CH across both Caucasian and Asian ethnicities in our meta-analysis.
Topics: Alcohol Dehydrogenase; CLOCK Proteins; Case-Control Studies; Cluster Headache; Genetic Predisposition to Disease; Genotype; Humans; Polymorphism, Single Nucleotide
PubMed: 35437765
DOI: 10.1111/ahg.12467 -
Biomarkers in Medicine Sep 2022To clarify the role of polymorphisms rs4986790 and rs4986791 in with susceptibility to neonatal sepsis. To evaluate the possible correlation of polymorphisms... (Meta-Analysis)
Meta-Analysis Review
To clarify the role of polymorphisms rs4986790 and rs4986791 in with susceptibility to neonatal sepsis. To evaluate the possible correlation of polymorphisms rs4986790 and rs4986791 with sepsis risk, odds ratios (ORs) were calculated. The heterogeneity was evaluated by χ-based Q-test. For rs4986790, ORs were 1.36 (95% CI: 1.05-1.79, p = 0.017) and 1.84 (95% CI: 0.04-7.9, p = 0.410) under AG+GG versus AA and G vs A models, respectively. For rs4986791, ORs were 2.22 (95% CI: 1.25-3.94, p = 0.006) and 2.20 (95% CI: 1.26-3.85, p = 0.005) under CT+TT versus CC and of T versus C models, respectively. The rs4986790 and rs4986791 polymorphisms in could influence the sepsis susceptibility in neonates.
Topics: Genetic Predisposition to Disease; Humans; Infant, Newborn; Odds Ratio; Polymorphism, Single Nucleotide; Sepsis; Toll-Like Receptor 4
PubMed: 36052709
DOI: 10.2217/bmm-2022-0390 -
Medical Science Monitor : International... Jun 2016BACKGROUND Recent genome-wide association studies have identified rs6983267 polymorphism as a key locus in the 8q24 region associated with multisite cancers. However,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND Recent genome-wide association studies have identified rs6983267 polymorphism as a key locus in the 8q24 region associated with multisite cancers. However, the information on its association with thyroid cancer is inconclusive. The aim of this study was to determine whether this locus is a risk factor for susceptibility to thyroid cancer by conducting a meta-analysis. MATERIAL AND METHODS Relevant studies were identified by searching PubMed and Embase databases. The pooled odds ratio (OR) and corresponding 95% confidence interval (95% CI) were calculated. RESULTS A total of 4 studies including 2825 cases and 9684 controls were enrolled to this meta-analysis. The pooled data showed the G allele of the rs6983267 polymorphism is a risk factor for susceptibility to thyroid cancer (OR=1.08, 95%CI: 1.02-1.16, P=0.01). Significant associations were also found in homozygote comparison (GG vs. TT: OR=1.17, 95%CI: 1.03-1.33, P=0.02) and dominant model (GG+GT vs. TT: OR=1.13, 95%CI: 1.01-1.26, P=0.03). Borderline significant associations in similar directions were found in the recessive model (GG vs. GT+TT: OR=1.10, 95%CI: 0.99-1.22, P=0.07) and heterozygote comparison (GT vs. TT: OR=1.10, 95%CI: 0.99-1.24, P=0.09). CONCLUSIONS Our meta-analysis shows that the rs6983267 G>T polymorphism might be associated with higher risk of thyroid cancer. Further research with larger sample sizes and full investigation of confounding risk factors is needed to confirm or revise our conclusions.
Topics: Alleles; Case-Control Studies; Chromosomes, Human, Pair 8; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Polymorphism, Single Nucleotide; Risk Factors; Thyroid Neoplasms
PubMed: 27251952
DOI: 10.12659/msm.896507 -
Scientific Reports Mar 2016ABO blood group system, a well-known genetic risk factor, has clinically been demonstrated to be linked with thrombotic vascular diseases. However, the relationship... (Meta-Analysis)
Meta-Analysis Review
ABO blood group system, a well-known genetic risk factor, has clinically been demonstrated to be linked with thrombotic vascular diseases. However, the relationship between ABO blood group and coronary artery disease (CAD) is still controversial. We here performed an updated meta-analysis of the related studies and tried to elucidate the potential role of ABO blood group as a risk factor for CAD. All detectable case-control and cohort studies comparing the risk of CAD in different ABO blood groups were collected for this analysis through searching PubMed, Embase, and the Cochrane Library. Ultimately, 17 studies covering 225,810 participants were included. The combined results showed that the risk of CAD was significantly higher in blood group A (OR = 1.14, 95% CI = 1.03 to 1.26, p = 0.01) and lower in blood group O (OR = 0.85, 95% CI = 0.78 to 0.94, p = 0.0008). Even when studies merely about myocardial infarction (MI) were removed, the risk of CAD was still significantly higher in blood group A (OR = 1.05, 95% CI = 1.00 to 1.10, p = 0.03) and lower in blood group O (OR = 0.89, 95% CI = 0.85 to 0.93, p < 0.00001). This updated systematic review and meta-analysis indicated that both blood group A and non-O were the risk factors of CAD.
Topics: ABO Blood-Group System; Adult; Aged; Coronary Artery Disease; Disease Susceptibility; Female; Humans; Male; Middle Aged; Risk Factors; Young Adult
PubMed: 26988722
DOI: 10.1038/srep23250 -
Infection, Genetics and Evolution :... Oct 2012Tuberculosis (TB), caused by infection of Mycobacterium tuberculosis, is a major challenge to global public health. The SP110 (Speckled 110) gene, which is considered as... (Meta-Analysis)
Meta-Analysis Review
Tuberculosis (TB), caused by infection of Mycobacterium tuberculosis, is a major challenge to global public health. The SP110 (Speckled 110) gene, which is considered as a host genetic susceptibility to TB, has been widely studied in recent years, yet the results were somewhat contradictory and indeterminate. We systematically searched published literatures on SP110 polymorphisms and tuberculosis risk until January 2012 in relevant databases, selected studies by previously defined criteria, extracted key data and quantitatively summarized associations of the most extensively studied polymorphisms through meta-analysis. A total of 10 624 subjects from seven case-control studies were included in the present study. In overall meta-analysis, pooled odds ratio of polymorphisms rs1135791, rs9061, rs11556887, rs3948464, rs1346311 were 1.01 (95% CI: 0.71-1.44), 0.86 (95% CI: 0.70-1.04), 0.99 (95% CI: 0.67-1.47), 1.29 (CI: 0.89-1.89) and 0.95 (CI: 0.86-1.04) respectively; the summary odds ratio of sensitivity analysis specifically on pulmonary TB were 1.02 (95% CI: 0.65-1.54) for rs1135791, 0.84 (95% CI: 0.68-1.02) for rs9061, 0.88 (95% CI: 0.57-1.36) for rs11556887, 0.94 (95% CI: 0.85-1.04) for rs1346311; and in the ethnicity stratified analysis, the estimated odds ratio were 0.97 (95% CI: 0.54-1.73) for rs1135791 and 0.86 (95% CI: 0.70-1.04) for rs9061 among Asians. None of the target polymorphisms in SP110 gene observed in the present quantitative synthesis was detected to be significantly associated with TB susceptibility. Given the moderate strength of the results, the complexities of pulmonary and extra-pulmonary host genetic polymorphisms, gene-gene and gene-environment interactions, and the cross-species difference between human and mice, it would not be robust to remark that SP110 has no role in TB progress.
Topics: Animals; Case-Control Studies; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Minor Histocompatibility Antigens; Nuclear Proteins; Odds Ratio; Polymorphism, Single Nucleotide; Tuberculosis, Pulmonary
PubMed: 22691368
DOI: 10.1016/j.meegid.2012.05.011 -
Gene Apr 2020Psoriasis has a complex genetic background with a strong heritable component. Herein, the present meta-analysis aims to evaluate the association of ERAP1 polymorphisms... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Psoriasis has a complex genetic background with a strong heritable component. Herein, the present meta-analysis aims to evaluate the association of ERAP1 polymorphisms with psoriasis susceptibility.
METHODS
PubMed, Web of Sciences, Scopus, and Cochrane Library databases were examined with no time limits up to March 2019, without language, age, and sex restrictions. The odds ratio (OR) and 95% confidence interval (CI) were calculated by CMA 2.0 software in a dichotomous analysis using computed effect sizes and having OR and confidence limits for each study. The subgroup analysis based on ethnicity, type of study, and genotyping method was performed.
RESULTS
Thirteen articles were involved in the meta-analysis, in details eight were cohort studies and five were case-control studies. The results showed an association between rs27524 [OR = 1.179; 95%CI: 1.081, 1.286; p < 0.001] and rs30187 [OR = 1.237; 95%CI: 1.133, 1.351; p < 0.001] polymorphisms and psoriasis susceptibility; whereas no association was detected with rs26653 [OR = 1.013; 95%CI: 0.798, 1.286; p = 0.914] and rs27044 [OR = 1.164; 95%CI: 0.982, 1.381; p = 0.080] polymorphisms. Psoriasis susceptibility in both Caucasian and Asian ethnicities was related to rs27524 polymorphism, while rs30187 and rs27044 polymorphisms were over-represented in patients belonging to Caucasian ethnicity. In addition, in cohort studies, psoriasis susceptibility was related to rs27524 polymorphism, while the associated polymorphisms were rs26653 and rs27044 in case-control studies, and rs30187 in both cohort and case-control studies.
CONCLUSIONS
These findings showed an association between rs27524 and rs30187 polymorphisms and susceptibility to psoriasis, while lack of association was obtained for rs26653 and rs27044 polymorphisms. In order to confirm our results, further studies are needed, also considering different factors, such as type of psoriasis and ethnicity.
Topics: Aminopeptidases; Animals; Endoplasmic Reticulum; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Psoriasis
PubMed: 32006595
DOI: 10.1016/j.gene.2020.144416 -
Journal of Evidence-based Medicine Aug 2017Genetic susceptibility of lung cancer has been widely studied for Chinese population, and meta-analysis of candidate gene association studies has also been performed for... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Genetic susceptibility of lung cancer has been widely studied for Chinese population, and meta-analysis of candidate gene association studies has also been performed for those genes. However, the overall evidence has not been well recognized.
OBJECTIVE
To investigate genetic association for the risk of lung cancer in Chinese.
METHOD
An overview of systematic reviews and meta-analyses of candidate gene association studies for lung cancer in Chinese was performed up to August 10 , 2016. The AMSTAR tool was used to assess the quality of the included systematic reviews and meta-analyses. Bibliometric analysis was performed to analyze the characteristics of reviews.
RESULTS
A total of 21 variants in 17 genes from 20 meta-analyses were included in this study. All 20 meta-analyses were published from 2011 to 2016. The quality scores of AMSTAR ranged from 3 to 7. All included genes were in the pathogenesis of lung cancer, such as the CYPs genes, GSTs genes, and base excision repair genes. Three polymorphisms were found to be associated with decreased risk of lung cancer for Chinese, 15 polymorphisms were found to be associated with increased risk of lung cancer for Chinese, but three polymorphisms were found to be not associated with lung cancer risk for Chinese.
CONCLUSION
The current study supports the genetic risk factors of lung cancer for Chinese are more likely to be variants from genes that contribute to the etiology of lung cancer.
Topics: China; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Lung Neoplasms; Polymorphism, Genetic; Review Literature as Topic
PubMed: 28857506
DOI: 10.1111/jebm.12269 -
The Journal of Steroid Biochemistry and... Sep 2014Vitamin D receptor (VDR) polymorphisms have been inconsistently investigated in type 1 diabetes (T1D). However, the results are inconsistent and inconclusive. The... (Meta-Analysis)
Meta-Analysis Review
Vitamin D receptor (VDR) polymorphisms have been inconsistently investigated in type 1 diabetes (T1D). However, the results are inconsistent and inconclusive. The current study aimed to investigate the role of TaqI, BsmI, ApaI and FokI VDR polymorphisms in T1D disease. Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, a systematic search and meta-analysis of the literature, since 1998 until december 2013, was conducted. Subgroup analyses were performed to detect potential sources of heterogeneity from selected study characteristics. Meta-analyses yielded a non-significant association of TaqI polymorphism with T1D [OR=1.014 (0.783-1.312); P=0.918] in the recessive model. The BsmI polymorphism was not associated with T1D [OR=1.44 (0.944-1.386); P=0.171] in the dominant model. Also, ApaI polymorphism was not associated with T1D risk [OR=0.996 (0.859-1.155); P=0.960] in the homozygous model. The FokI polymorphism was not associated with T1D risk [OR=0.968 (0.743-1.263); P=0.813] in dominant model. Stratification according to study characteristics showed that publication year, age, gender, estimated vitamin D levels and latitude moderated significantly association between VDR polymorphisms and T1D disease. Meta-analysis on haplotypes revealed that BAT might be a significant risk factor for T1D [OR=1.331 (0.957-1.850; P=0.089]. However, the bAT was found to be a significant protective factor [OR=0.639 (0.460-0.887); P=0.007]. As conclusion, individual VDR polymorphisms seemed not to be associated with T1D risk. However, haplotypes contributed significantly to disease susceptibility. Study characteristics moderated the association between VDR polymorphisms and T1D. These results suggested that, in T1D pathogenesis, VDR polymorphisms interact with each other and with environmental factors.
Topics: Case-Control Studies; Diabetes Mellitus, Type 1; Genetic Predisposition to Disease; Haplotypes; Humans; Polymorphism, Genetic; Prognosis; Receptors, Calcitriol
PubMed: 24742873
DOI: 10.1016/j.jsbmb.2014.03.011