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.

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 XRCC3 rs861539(Thr241Met) polymorphism and thyroid cancer risk (a Meta-analysis)

2021 ◽  
Author(s):  
Yayun Wu ◽  
Yun Ren ◽  
Zhimin Cao ◽  
Kai Zhang ◽  
Xiaoqiang Dong ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Recessive Model ◽  
Single Nucleotide ◽  
Knowledge Infrastructure ◽  
Xrcc3 Gene ◽  
Thyroid Cancer Risk ◽  
Chinese National Knowledge Infrastructure

Abstract Objective To explore the association between single nucleotide polymorphism (SNP) in the XRCC3 rs861539(Thr241Met) locus and thyroid cancer risk. Methods Studies investigating the association between SNP in the XRCC3 gene and thyroid cancer susceptibility were retrieved from the PubMed, Embase, Web of Science, CNKI (Chinese National Knowledge Infrastructure), WanFang, and CBM (China Biology Medicine) databases. Eligible studies were screened according to inclusion/exclusion criteria and principles of quality evaluation. Meta-analysis was performed using Stata 14.0 software. Odds ratios with their corresponding 95% confidence intervals were pooled to assess the association between SNP in the XRCC3 gene rs861539 locus and thyroid cancer susceptibility. Results 10 articles(11 studies) were eligible for this meta-analysis. Meta-analysis results were shown as follows: No significant association was found between XRCC3 rs861539 polymorphism and thyroid cancer risk in Dominant and Overdominant models〔Dominant model: CT+TT vs CC, OR=1.231, 95% CI(0.998, 1.474); Overdominant model: CT vs TT+CC, OR=1.05, 95% CI(0.94, 1.18)〕. Significant associations were found in Recessive and Allelic models〔Recessive model: TT vs CC+CT, OR=1.632, 95% CI(1.349, 1.974); Allelic model: T vs C: OR=1.263, 95% CI(1.091, 1.462)〕. Conclusion The results of this study suggest that the XRCC3 rs861539(Thr241Met) polymorphism may be associated with an increased thyroid cancer risk in overall population, and a tendency for significantly increased thyroid cancer risk in TT(Met/Met) genotype population.

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 MicroRNA biogenesis pathway genes polymorphisms and cancer risk: a systematic review and meta-analysis

PeerJ ◽  
2016 ◽  
Vol 4 ◽  
pp. e2706 ◽  
Author(s):  
Jieyu He ◽  
Jun Zhao ◽  
Wenbo Zhu ◽  
Daxun Qi ◽  
Lina Wang ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Genetic Variants ◽  
Human Cancer ◽  
Meta Analysis ◽  
Mirna Biogenesis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Link Type ◽  
Larger Sample ◽  
Mirna Biogenesis Pathway

MicroRNAs (miRNAs) may promote the development and progression of human cancers. Therefore, components of the miRNA biogenesis pathway may play critical roles in human cancer. Single nucleotide polymorphisms (SNPs) or mutations in genes involved in the miRNA biogenesis pathway may alter levels of gene expression, affecting disease susceptibility. Results of previous studies on genetic variants in the miRNA biogenesis pathway and cancer risk were inconsistent. Therefore, a meta-analysis is needed to assess the associations of these genetic variants with human cancer risk. We searched for relevant articles from PubMed, Web of Science, CNKI, and CBM through Jun 21, 2016. In total, 21 case-control articles met all of the inclusion criteria for the study. Significant associations were observed between cancer risk and theDGCR8polymorphismrs417309G >A (OR 1.22, 95% CI [1.04–1.42]), as well as theDICER1polymorphismrs1057035TT (OR 1.13, 95% CI [1.05–1.22]). These SNPs exhibit high potential as novel diagnostic markers. Future studies with larger sample sizes and more refined analyses are needed to shed more light on these findings.

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.

scholarly journals Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sabrina Samad Shoily ◽  
Tamim Ahsan ◽  
Kaniz Fatema ◽  
Abu Ashfaqur Sajib
Keyword(s):  
Diabetes Mellitus ◽  
Chronic Kidney Disease ◽  
Genetic Variants ◽  
Nucleotide Polymorphisms ◽  
Differential Distribution ◽  
East Asians ◽  
Single Nucleotide ◽  
Common Genetic Variants ◽  
Haplotype Frequencies ◽  
Variant Alleles

AbstractDiabetes mellitus is a complex and heterogeneous metabolic disorder which is often pre- or post-existent with complications such as cardiovascular disease, hypertension, inflammation, chronic kidney disease, diabetic retino- and nephropathies. However, the frequencies of these co-morbidities vary among individuals and across populations. It is, therefore, not unlikely that certain genetic variants might commonly contribute to these conditions. Here, we identified four single nucleotide polymorphisms (rs5186, rs1800795, rs1799983 and rs1800629 in AGTR1, IL6, NOS3 and TNFA genes, respectively) to be commonly associated with each of these conditions. We explored their possible interplay in diabetes and associated complications. The variant allele and haplotype frequencies at these polymorphic loci vary among different super-populations (African, European, admixed Americans, South and East Asians). The variant alleles are particularly highly prevalent in different European and admixed American populations. Differential distribution of these variants in different ethnic groups suggests that certain drugs might be more effective in selective populations rather than all. Therefore, population specific genetic architectures should be considered before considering a drug for these conditions.

Genetic Polymorphisms and the Risk of Diabetic Foot: A Systematic Review and Meta-Analyses

2020 ◽  
pp. 153473462097759
Author(s):  
Jun Zhao ◽  
Le-Xuan Zhang ◽  
Yu-Ting Wang ◽  
Yang Li ◽  
Hong-Lin Chen, MD
Keyword(s):  
Genetic Polymorphisms ◽  
Diabetic Foot ◽  
Protective Factor ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Asian Populations ◽  
Tnf Α ◽  
Newcastle Ottawa Scale ◽  
Meta Analyses ◽  
Relationship Of

Background Diabetic foot (DF) is a dangerous complication of diabetes. The aim of the study was to synthesize all the published single nucleotide polymorphisms (SNPs) of DF to objectively evaluate the relationship of SNPs and DF risks. Methods The HuGE database and CNKI were searched for eligible publications on genetic polymorphisms and the risk of DF systematically. The quality of literatures was evaluated by the Newcastle-Ottawa scale. Pooled odds ratios with a 95% confidence interval for SNPs were evaluated through 3 genetic models. Results Citing 29 different polymorphisms from 24 articles and the study met our selection criteria. There were 24 polymorphisms summarized systematically, and 5 merged polymorphisms for a meta-analysis: 9 positively associated with DF: HIF-1α rs11549465, TNF-α rs1800629, TLR-9 rs5743836, FIB rs6056, HSP70-2437C/T, VDR rs2228570, LOX rs1800449, ITLN1 rs2274907, and OPG rs2073617, but OPG rs3134069 was not a risk factor in DF; 6 negatively associated with DF: VEGF rs833061 and rs2010963, MCP-1 rs1024611, SDF-1 rs1801157, SIRT1 rs12778366, and OPG rs2073617. In addition, 13 polymorphisms were not associated with DF: MMP-9 rs3918242, eNOS rs1799983, VEGF rs3025039, -7C/T, rs1570360, rs13207351, and rs699947, IL-6 rs1800795, HIF-1α rs11549467, TNF-α rs361525, TLR-2 rs3804100, SIRT1 rs3758391, and TIMP-1 rs2070584. Conclusions The study provided some evidence for SNPs to the development of diabetic foot. The meta-analysis showed that rs1024611 of MCP-1 may be regarded as a protective factor, especially in Asian populations. Other loci indicated inconsistent results.

scholarly journals Plasma interleukin-21 levels and genetic variants are associated with susceptibility to rheumatoid arthritis

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Youguo Hao ◽  
Lijun Xie ◽  
Jing Xia ◽  
Zhen Liu ◽  
Baoxiu Yang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Genetic Variants ◽  
Chinese Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Das28 Score ◽  
Single Nucleotide ◽  
Chronic Inflammatory Condition ◽  
Chinese Subjects ◽  
Pro Inflammatory Cytokines

Abstract Background Rheumatoid Arthritis (RA) is a chronic inflammatory condition characterized by autoantibodies development and an elevated spectrum of pro-inflammatory cytokines. Previous reports highlighted a relationship between IL-21and the pathogenesis of RA. Although elevated IL-21 levels have been reported in RA patients, the association of common IL-21 genetic variants with a predisposition to RA development in the Chinese population lacks. Materials and methods Five hundred and fourteen Chinese subjects (healthy controls: 303 and rheumatoid arthritis patients: 211) were enrolled in the study. Clinical data of patients were collected from medical records, and patients were treated as per the guidelines. Common single nucleotide polymorphisms in the IL-21 gene (rs907715, rs2221903, rs2055979 and rs6822844) were genotyped by TaqMan SNPs genotyping method. IL-21 level in plasma of RA patients and healthy subjects was measured by ELISA. Results The plasma level of IL-21 was significantly higher in subjects with rheumatoid arthritis relative to healthy controls (p < 0.0001). A positive correlation was observed between IL-21 level and DAS28 score, indicating the association of the cytokine with the worsening of the disease (Spearman r = 0.61, p < 0.0001). The prevalence of AA genotype (rs2055979) was significantly higher in RA subjects than in the controls (p < 0.0001, χ2 = 34.73, OR = 4.34, 95% CI = 2.623 to 7.219). Furthermore, elevated plasma IL-21 was observed in the rs2055979-AA genotype compared to CC type (p < 0.0001). Conclusion IL-21 plays a crucial function in rheumatoid arthritis pathogenesis. IL-21 rs2055979 polymorphism is associated with IL-21 plasma levels and is predisposed to RA development in the Chinese population.

Sign in / Sign up

Export Citation Format

Share Document