scholarly journals Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis

2021 ◽  
Vol 11 ◽  
Author(s):  
Mengmeng Li ◽  
Rui Zhong ◽  
Yingxue Lu ◽  
Qian Zhao ◽  
Guangjian Li ◽  
...  
Keyword(s):  
Antiepileptic Drugs ◽  
South Asians ◽  
Meta Analysis ◽  
Genetic Models ◽  
Cochrane Library ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
Meta Analyses ◽  
Significant Publication Bias

Background:SCN1A and SCN2A genes have been reported to be associated with the efficacy of single and combined antiepileptic therapy, but the results remain contradictory. Previous meta-analyses on this topic mainly focused on the SCN1A rs3812718 polymorphism. However, meta-analyses focused on SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, or SCN2A rs2304016 polymorphisms are scarce or non-existent.Objective: We aimed to conduct a meta-analysis to determine the effects of SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 polymorphisms on resistance to antiepileptic drugs (AEDs).Methods: We searched the PubMed, Embase, Cochrane Library, WANFANG, and CNKI databases up to June 2020 to collect studies on the association of SCN1A and SCN2A polymorphisms with reactivity to AEDs. We calculated the pooled odds ratios (ORs) under the allelic, homozygous, heterozygous, dominant, and recessive genetic models to identify the association between the four single-nucleotide polymorphisms (SNPs) and resistance to AEDs.Results: Our meta-analysis included 19 eligible studies. The results showed that the SCN1A rs2298771 polymorphism was related to AED resistance in the allelic, homozygous, and recessive genetic models (G vs. A: OR = 1.20, 95% CI: 1.012–1.424; GG vs. AA: OR = 1.567, 95% CI: 1.147–2.142; GG vs. AA + AG: OR = 1.408, 95% CI: 1.053–1.882). The homozygous model remained significant after Bonferroni correction (P < 0.0125). Further subgroup analyses demonstrated the significance of the correlation in the dominant model in Caucasians (South Asians) after Bonferroni correction (GG + GA vs. AA: OR = 1.620, 95% CI: 1.165–2.252). However, no association between SCN1A rs2298771 polymorphism and resistance to AEDs was found in Asians or Caucasians (non-South Asians). For SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 polymorphisms, the correlations with responsiveness to AEDs were not significant in the overall population nor in any subgroup after conducting the Bonferroni correction. The results for SCN1A rs2298771, SCN1A rs10188577, and SCN2A rs2304016 polymorphisms were stable and reliable according to sensitivity analysis and Begg and Egger tests. However, the results for SCN2A rs17183814 polymorphism have to be treated cautiously owing to the significant publication bias revealed by Begg and Egger tests.Conclusions: The present meta-analysis indicated that SCN1A rs2298771 polymorphism significantly affects resistance to AEDs in the overall population and Caucasians (South Asians). There were no significant correlations between SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 polymorphisms and resistance to AEDs.

scholarly journals Association between melatonin receptor gene polymorphisms and polycystic ovarian syndrome: a systematic review and meta-analysis

2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Shiqi Yi ◽  
Jiawei Xu ◽  
Hao Shi ◽  
Wenbo Li ◽  
Qian Li ◽  
...  
Keyword(s):  
Systematic Review ◽  
Single Nucleotide Polymorphisms ◽  
Polycystic Ovarian Syndrome ◽  
Meta Analysis ◽  
Genetic Models ◽  
Cochrane Library ◽  
Nucleotide Polymorphisms ◽  
Melatonin Receptor ◽  
Single Nucleotide ◽  
Ovarian Syndrome

Abstract Background: Polycystic ovarian syndrome (PCOS) is a kind of common gynecological endocrine disorder. And the mutations of melatonin receptor (MTNR) genes are related to the occurrence of PCOS. But previous researches have shown opposite results. So, the object of our systematic review and meta-analysis is to investigate the relationship between MTNR 1A/B polymorphisms and PCOS. Methods: PubMed, Embase, Ovid, the Cochrane Library, Web of Science and three Chinese databases (VIP, CNKI and Wanfang) were used to retrieve eligible articles published between January 1980 and February 2020. And we used the odds ratio (OR) and its 95% confidence interval (CI) to investigate the strength of the association by six genetic models, allelic, codominant (homozygous and heterozygous), dominant, recessive and superdominant models. Review Manager 5.3, IBM SPSS statistics 25 and Stata MP 16.0 software were used to do this meta-analysis. Results: Our meta-analysis involved 2553 PCOS patients and 3152 controls, for two single nucleotide polymorphisms (rs10830963 C> G in MTNR1B and rs2119882 T> C in MTNR1A) and significant associations were found in some genetic models of these single nucleotide polymorphisms (SNPs). For rs10830963, strongly significant was found in the heterozygote model (GC vs. CC, P=0.02). Additionally, a slight trend was detected in the allelic (G vs. C), homozygote (GG vs. CC) and dominant (GG+GC vs. CC) model of rs10830963 (P=0.05). And after further sensitivity analysis, a study with high heterogeneity was removed. In the allelic (P=0.000), homozygote (P=0.001), dominant (P=0.000) and recessive (GG vs. GC+CC, P=0.001) model, strong associations between rs10830963 and PCOS were found. Moreover, for rs2119882, five genetic models, allelic (C vs. T, P=0.000), codominant (the homozygote (CC vs. TT, P=0.000) and heterozygote model (CT vs. TT, P=0.02), dominant (CC + CT vs. TT, P=0.03) and recessive model (CC vs. CT + TT, P=0.000) showed significant statistical associations with PCOS. Conclusion: MTNR1B rs10830963 and MTNR1B rs2119882 polymorphisms are associated with PCOS risk. However, the above conclusions still require being confirmed by much larger multi-ethnic studies.

scholarly journals Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health

2021 ◽  
Author(s):  
Petros C. Dinas ◽  
Eleni Nintou ◽  
Maria Vliora ◽  
Anna E. Pravednikova ◽  
Paraskevi Sakellariou ◽  
...  
Keyword(s):  
Risk Factors ◽  
Uncoupling Protein ◽  
Meta Analysis ◽  
Case Control ◽  
Cochrane Library ◽  
Nucleotide Polymorphisms ◽  
Sample Collection ◽  
Case Control Studies ◽  
Single Nucleotide

The contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested whether UCP1 SNPs A-3826G, A-1766G, Ala64Thr and A-112C are associated with the most common CMP (cardiovascular disease, hypertension, metabolic syndrome, and type-2 diabetes) and CMP risk factors. This case-control study included blood sample collection from 2,283 Caucasians (1,139 healthy; 1,144 CMP) across Armenia, Greece, Poland, Russia and United Kingdom for genotyping of the above-mentioned SNPs. We extended the results via a systematic review and meta-analysis, covering PubMed, Embase, and Cochrane Library databases. In Armenia the GA genotype and A allele of Ala64Thr were associated with ~2-fold higher risk for CMP compared to the GG genotype or G allele, respectively (p<0.05). In Greece, A allele of Ala64Thr SNP decreased the risk of CMP by 39%. Healthy individuals with A-3826G GG genotype and carriers of mutant allele of A-112C and Ala64Thr had higher body mass index compared to those carrying other genotypes. In healthy Polish, higher waist-to-hip ratio (WHR) was observed in heterozygotes A-3826G compared to AA homozygotes. Heterozygosity of the A-112C and Ala64Thr SNPs was related to lower WHR in CMP individuals compared to wild type homozygotes (p<0.05). Meta-analysis in case-control studies showed no statistically significant odds ratios in different alleles across the four studied SNPs (p>0.05). Thus, we conclude that the studied SNPs could be associated with the most common CMP and their risk factors in some populations.

scholarly journals Influence of Two Common Polymorphisms in theEPHX1Gene on Warfarin Maintenance Dosage: A Meta-Analysis

2015 ◽  
Vol 2015 ◽  
pp. 1-12 ◽  
Author(s):  
Hong-Qiang Liu ◽  
Chang-Po Zhang ◽  
Chang-Zhen Zhang ◽  
Xiang-Chen Liu ◽  
Zun-Jing Liu
Keyword(s):  
Maintenance Dose ◽  
Web Of Science ◽  
Meta Analysis ◽  
Maintenance Dosage ◽  
Cochrane Library ◽  
Strongly Correlated ◽  
Nucleotide Polymorphisms ◽  
Inclusion Criteria ◽  
Single Nucleotide ◽  
Standard Mean Difference

We conducted a meta-analysis to investigate the influence of two common single nucleotide polymorphisms (SNPs) (rs2292566 G>A and rs4653436 A>G) in theEPHX1gene on warfarin maintenance dosages. Relevant literatures were searched using thePubMed, Embase, Web of Science, Cochrane Library, CISCOM, CINAHL, Google Scholar, CBM, andCNKIdatabases without any language restrictions. STATA Version 12.0 software (Stata Corporation, College Station, TX, USA) was used for this meta-analysis. Standard mean difference and its corresponding 95% confidence interval (95% CI) were calculated. Seven studies met the inclusion criteria, including 2,063 warfarin-treated patients. Meta-analysis results illustrated thatEPHX1rs2292566 G>A polymorphism might be strongly correlated with a higher maintenance dose of warfarin. However, no interaction ofEPHX1rs4653436 A>G polymorphism with warfarin maintenance dosage was detected. A further subgroup analysis based on stratification by ethnicity indicated thatEPHX1rs2292566 G>A polymorphism was positively correlated with warfarin maintenance dosage among Caucasians, but not Asians. No associations were observed betweenEPHX1rs4653436 A>G polymorphism warfarin maintenance dosage among both Caucasians and Asians. Our meta-analysis provides robust and unambiguous evidence thatEPHX1rs2292566 polymorphism may affect the maintenance dose of warfarin in Caucasians.

scholarly journals Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk

2021 ◽  
Vol 8 ◽  
Author(s):  
Xiaoying Li ◽  
Qijun Wu ◽  
Baosen Zhou ◽  
Yashu Liu ◽  
Jiale Lv ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Systematic Reviews ◽  
Statistical Significance ◽  
Genetic Models ◽  
Nucleotide Polymorphisms ◽  
Umbrella Review ◽  
Single Nucleotide ◽  
Meta Analyses ◽  
Cumulative Evidence

The aim is to comprehensively and accurately assess potential relationships between single nucleotide polymorphisms (SNP) and lung cancer (LC) risk by summarizing the evidence in systematic reviews and meta-analyses. This umbrella review was registered with the PROSPERO international prospective register of systematic reviews under registration number CRD42020204685. The PubMed, Web of Science, and Embase databases were searched to identify eligible systematic reviews and meta-analyses from inception to August 14, 2020. The evaluation of cumulative evidence was conducted for associations with nominally statistical significance based on the Venice criteria and false positive report probability (FPRP). This umbrella review finally included 120 articles of a total of 190 SNP. The median number of studies and sample size included in the meta-analyses were five (range, 3–52) and 4 389 (range, 354–256 490), respectively. A total of 85 SNP (in 218 genetic models) were nominally statistically associated with LC risk. Based on the Venice criteria and FPRP, 13 SNP (in 22 genetic models), 47 SNP (in 99 genetic models), and 55 SNP (in 94 genetic models) had strong, moderate, and weak cumulative evidence of associations with LC risk, respectively. In conclusion, this umbrella review indicated that only 13 SNP (of 11 genes and one miRNA) were strongly correlated to LC risk. These findings can serve as a general and helpful reference for further genetic studies.

scholarly journals Association of ADAMTS4 and ADAMTS5 polymorphisms with musculoskeletal degenerative diseases: a systematic review and meta-analysis

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Jian-Zhong Huo ◽  
Xing-Hua Ji ◽  
Zhong-Yi Su ◽  
Peng Shang ◽  
Fei Gao
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Degenerative Diseases ◽  
Single Nucleotide ◽  
Data Collection Sheet ◽  
A Disintegrin And Metalloproteinase ◽  
Meta Analyses ◽  
Thrombospondin Motif ◽  
Allelic Model

Objective: This meta-analysis and systematic review was performed with the aim of investigating the association between a disintegrin and metalloproteinase with thrombospondin motif (ADAMTS)4, AMDMTS5 polymorphisms and risk of musculoskeletal degenerative diseases.Methods: PubMed, EMBASE, ISI Web of Science, Wanfang and CNKI were searched from their inception until May 2018 to identify eligible studies. Data from individual studies were extracted using a standardized data collection sheet. The estimate of association between ADAMTS4, AMDMTS5 polymorphisms and risk of musculoskeletal degenerative diseases was expressed as odds ratio (OR) along with its related 95% confidence interval (95%CI) under an allelic model of inheritance. Meta-analysis was conducted using RevMan 5.3 software. Subgroup-analyses by ethnicity and type of diseases were performed.Results: Eight studies including ten cohorts were included in this meta-analysis. The meta-analyses results based on seven studies showed that rs226794 in ADAMTS5 gene was not associated with risk of musculoskeletal degenerative diseases (A vs. G: OR 1.07; 95%CI 0.97–1.19; P=0.16). Rs2830585 in ADAMTS5 was significantly associated with musculoskeletal degenerative diseases in only Asians (OR 1.41, 95%CI 1.18–1.68; P=0.0001), but not in Caucasians. Since only two of the collected studies referred to ADAMTS4, we did not perform meta-analysis for these comparisons.Conclusion: Taken together, rs226794 and rs2830585 in ADAMTS5 gene were not associated with musculoskeletal degenerative diseases in overall population, but there seemed to be an ethnicity-dependent effect of rs2830585 in the risk of musculoskeletal degenerative diseases. Insufficient evidence was found to support the association of other single nucleotide polymorphisms and musculoskeletal degenerative diseases.

scholarly journals Association between the polymorphisms of CALM1 gene and osteoarthritis risk: a meta-analysis based on observational studies

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Haoyu Yang ◽  
Zhiyong Hu ◽  
Chao Zhuang ◽  
Ruiping Liu ◽  
Yunkun Zhang
Keyword(s):  
Confidence Intervals ◽  
Observational Studies ◽  
Meta Analysis ◽  
Cochrane Library ◽  
Multifactorial Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Knee Oa ◽  
Subgroup Analyses ◽  
Different Populations

The existing studies on the association between polymorphisms of Calmodulin 1 (CALM1) gene and the risk of osteoarthritis (OA, a complex multifactorial disease and a major degenerative form of arthritis) in different populations have yielded conflicting findings. Therefore, we conducted a meta-analysis by systematically searching PubMed, Embase, Medline, Cochrane Library and Google Scholar, and assessing this association by calculating pooled odds ratios with 95% confidence intervals. Subgroup analyses stratified by ethnicity, OA type, and genotype were also conducted. Six studies (2752 cases and 3259 controls) involving six single nucleotide polymorphisms were included. Our data suggested that the T allele and genotype TT of the rs12885713 polymorphism, and the C allele of the rs2300496 polymorphism in the CALM1 gene all increased the risk of OA. The pooled results revealed no significant association between the CALM1 rs3213718 polymorphism and the risk of OA. Stratification analyses by ethnicity and OA type showed that the rs12885713 polymorphism increased the risk of OA among Asians and in knee OA, respectively. In conclusion, the rs12885713 and rs2300496 polymorphisms of the CALM1 gene may both increase the risk of OA. Owing to the limitations of the present study, this finding should be further confirmed in future well-designed studies.

scholarly journals Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
Ran Ran ◽  
Gang Tu ◽  
Hui Li ◽  
Hao Wang ◽  
Exian Mou ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Genetic Variants ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Epidemiological Evidence ◽  
Single Nucleotide ◽  
Reference Information ◽  
Thyroid Cancer Risk ◽  
Positive Report ◽  
Meta Analyses

Purpose. With the increasing incidence of thyroid cancer (TC), associations between genetic polymorphisms and TC risk have attracted a lot of attention. Considering that the results of associations of genetic variants with TC were usually inconsistent based on publications until now, we attempted to comprehensively evaluate the real evidence of associations between single nucleotide polymorphisms (SNPs) and TC risk. Method. We performed meta-analyses on 36 SNPs in 23 genes associated with TC susceptibility based on the data from 99 articles and comprehensively valued the epidemiological evidence of significant associations through the Venice criteria and false-positive report probability (FPRP) test. OR and P value were also calculated for 19 SNPs in 13 genes based on the insufficient data from 22 articles. Results. 19 SNPs were found significantly associated with TC susceptibility. Of these, strong epidemiological evidence of associations was identified for the following seven SNPs: POU5F1B rs6983267, FOXE1 rs966423, TERT rs2736100, NKX2-1 rs944289, FOXE1 rs1867277, FOXE1 rs2439302, and RET rs1799939, in which moderate associations were found in four SNPs and weak associations were found in eight SNPs. In addition, probable significant associations with TC were found in nine SNPs. Conclusion. Our study systematically evaluated associations between SNPs and TC risk and offered reference information for further understanding of polymorphisms and TC susceptibility.

Association between variants on 8q24 and prostate cancer: A review and meta-analysis.

2012 ◽  
Vol 30 (5_suppl) ◽  
pp. 28-28
Author(s):  
Sarah M. Troutman ◽  
Tristan M. Sissung ◽  
Cheryl D. Cropp ◽  
David J. Venzon ◽  
Shawn D. Spencer ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Racial Disparities ◽  
African American Men ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hispanic Men ◽  
Variant Alleles ◽  
Meta Analyses ◽  
8Q24 Region

28 Background: Racial disparities in the incidence prostate cancer exist but remain unexplained. Recent studies implicate single nucleotide polymorphisms (SNPs) within the 8q24 region as a risk factor for prostate cancer (PCa) and the frequency of variant alleles at these SNPs appear to differ by race. To determine the association between 8q24 polymorphisms and PCa among men of different races, we performed meta-analyses, stratified by race. Methods: Twenty-nine studies of seven SNPs and one microsatellite marker located within the 8q24 region were included in the meta-analyses. Allelic odds ratio (OR) values and confidence intervals were calculated using the Mantel-Haenszel test. This test assumes homogeneity so we first used the Breslow-Day test to determine whether or not the assumption of homogeneity was valid in each population. Results: PCa risk was associated with the following SNPs in all included races: rs6983267, rs1447295, rs6983561, rs7837688, rs16901979, and DG8S737(-8). PCa risk in Caucasians was conferred by rs6983267 (OR = 1.22 (1.17-1.27)), rs1447295 (OR = 1.43 (1.45-1.49)), rs6983561 (OR = 1.45 (1.30-1.61), rs7837688 (OR = 1.55 (1.39-1.73)), rs16902979 (OR = 1.39 (1.29-1.49)), and DG8S737(-8) (OR = 1.32 (1.12-1.56)). In African American men, a significant association was found for rs1447295 (OR = 1.1 (1.02-1.18)), rs6983561 (OR = 1.43 (1.29-1.59)), rs16901979 (OR = 1.39 (1.29-1.49)), and DG8S737(-8) (OR =1.34 (1.19-1.50)). Alleles associated with PCa risk in Asians were rs6983267 (OR = 1.15 (1.04-1.26)), rs1447295 (OR = 1.39 (1.25-1.54)), rs6983561 (OR = 1.68 (1.51-1.88)), and rs16901979 (OR = 1.65 (1.48-1.85)). The risk allele at rs1447295 was also associated with PCa risk among Hispanic men. Conclusions: 8q24 contains SNPs that are associated with PCa risk, but the strength of this association depended on race. Racial disparities in the incidence of PCa may in part be accounted for by 8q24 variants.

Laser Influence on Dental Sensitivity Compared to Other Light Sources Used During In-office Dental Bleaching: Systematic Review and Meta-analysis

2020 ◽  
Vol 45 (6) ◽  
pp. 589-597
Author(s):  
BGS Casado ◽  
EP Pellizzer ◽  
JR Souto Maior ◽  
CAA Lemos ◽  
BCE Vasconcelos ◽  
...  
Keyword(s):  
Randomized Clinical Trials ◽  
Color Change ◽  
Meta Analysis ◽  
Present Review ◽  
Cochrane Library ◽  
Light Sources ◽  
Eligibility Criteria ◽  
Tooth Color ◽  
Significant Difference ◽  
Meta Analyses

Clinical Relevance The use of laser light during bleaching will not reduce the incidence or severity of sensitivity and will not increase the degree of color change compared with nonlaser light sources. SUMMARY Objective: To evaluate whether the use of laser during in-office bleaching promotes a reduction in dental sensitivity after bleaching compared with other light sources. Methods: The present review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) and is registered with PROSPERO (CDR42018096591). Searches were conducted in the PubMed/Medline, Web of Science, and Cochrane Library databases for relevant articles published up to August 2018. Only randomized clinical trials among adults that compared the use of laser during in-office whitening and other light sources were considered eligible. Results: After analysis of the texts retrieved during the database search, six articles met the eligibility criteria and were selected for the present review. For the outcome dental sensitivity, no significant difference was found favoring any type of light either for intensity (mean difference [MD]: −1.60; confidence interval [CI]: −3.42 to 0.22; p=0.09) or incidence (MD: 1.00; CI: 0.755 to 1.33; p=1.00). Regarding change in tooth color, no significant differences were found between the use of the laser and other light sources (MD: −2.22; CI: −6.36 to 1.93; p=0.29). Conclusions: Within the limitations of the present study, laser exerts no influence on tooth sensitivity compared with other light sources when used during in-office bleaching. The included studies demonstrated that laser use during in-office bleaching may have no influence on tooth color change.

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