scholarly journals The susceptibility of SERPINE1 rs1799889 SNP in diabetic vascular complications: a meta-analysis of fifty-one case-control studies

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
JingYi Chen ◽  
ChuanNan Zhai ◽  
ZhiQian Wang ◽  
Rui Li ◽  
WenJing Wu ◽  
...  
Keyword(s):  
Meta Analysis ◽  
Vascular Complications ◽  
Case Control ◽  
Genetic Models ◽  
Nucleotide Polymorphism ◽  
Case Control Studies ◽  
Cvd Risk ◽  
Single Nucleotide ◽  
Diabetic Vascular Complications ◽  
Obvious Association

Abstract Background The serine protease inhibitor-1 (SERPINE1) rs1799889 single nucleotide polymorphism (SNP) has been constantly associated with diabetes mellitus (DM) and its vascular complications. The aim of this meta-analysis was to evaluate this association with combined evidences. Methods The systematic search was performed for studies published up to March 2021 which assess the associations between SERPINE1 rs1799889 SNP and the risks of DM, diabetic retinopathy (DR), diabetic cardiovascular disease (CVD) and diabetic nephropathy (DN). Only case-control studies were identified, and the linkage between SERPINE1 rs1799889 polymorphism and diabetic vascular risks were evaluated using genetic models. Results 51 comparisons were enrolled. The results revealed a significant association with diabetes risk in overall population (allelic: OR = 1.34, 95 % CI = 1.14–1.57, homozygous: OR = 1.66, 95 % CI = 1.23–2.14, heterozygous: OR = 1.35, 95 % CI = 1.08–1.69, dominant: OR = 1.49, 95 % CI = 1.18–1.88, recessive: OR = 1.30, 95 % CI = 1.06–1.59) as well as in Asian descents (allelic: OR = 1.45, 95 % CI = 1.16–1.82, homozygous: OR = 1.88, 95 % CI = 1.29–2.75, heterozygous: OR = 1.47, 95 % CI = 1.08-2.00, dominant: OR = 1.64, 95 % CI = 1.21–2.24, recessive: OR = 1.46, 95 % CI = 1.09–1.96). A significant association was observed with DR risk (homozygous: OR = 1.25, 95 % CI = 1.01–1.56, recessive: OR = 1.20, 95 % CI = 1.01–1.43) for overall population, as for the European subgroup (homozygous: OR = 1.32, 95 % CI = 1.02–1.72, recessive: OR = 1.38, 95 % CI = 1.11–1.71). A significant association were shown with DN risk for overall population (allelic: OR = 1.48, 95 % CI = 1.15–1.90, homozygous: OR = 1.92, 95 % CI = 1.26–2.95, dominant: OR = 1.41, 95 % CI = 1.01–1.97, recessive: OR = 1.78, 95 % CI = 1.27–2.51) and for Asian subgroup (allelic: OR = 1.70, 95 % CI = 1.17–2.47, homozygous: OR = 2.46, 95 % CI = 1.30–4.66, recessive: OR = 2.24, 95 % CI = 1.40–3.59) after ethnicity stratification. No obvious association was implied with overall diabetic CVD risk in any genetic models, or after ethnicity stratification. Conclusions SERPINE1 rs1799889 4G polymorphism may outstand for serving as a genetic synergistic factor in overall DM and DN populations, positively for individuals with Asian descent. The association of SERPINE1 rs1799889 SNP and DR or diabetic CVD risks was not revealed.

scholarly journals The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt–Jakob Disease

Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 3132
Author(s):  
Yong-Chan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Meta Analysis ◽  
Prnp Gene ◽  
Case Control ◽  
Prion Protein Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Jakob Disease ◽  
Sporadic Cjd

Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrPSc) derived from endogenous forms of prion protein (PrPC). Several case–control and genome-wide association studies have reported that the M129V polymorphism of the human prion protein gene (PRNP) is significantly associated with susceptibility to sporadic Creutzfeldt–Jakob disease (CJD). However, since some case–control studies have not shown these associations, the results remain controversial. We collected data that contain the genotype and allele frequencies of the M129V single-nucleotide polymorphism (SNP) of the PRNP gene and information on ethnic backgrounds from sporadic CJD patients. We performed a meta-analysis by collecting data from eligible studies to evaluate the association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD. We found a very strong association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD using a meta-analysis for the first time. We validated the eligibility of existing reports and found severe heterogeneity in some previous studies. We also found that the MM homozygote is a potent risk factor for sporadic CJD compared to the MV heterozygote in the heterozygote comparison model (MM vs. MV, odds ratio = 4.9611, 95% confidence interval: 3.4785; 7.0758, p < 1 × 10−10). To the best of our knowledge, this was the first meta-analysis assessment of the relationship between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD.

scholarly journals SNP rs2596542G>A in MICA is associated with risk of hepatocellular carcinoma: a meta-analysis

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Haichuan Wang ◽  
Hui Cao ◽  
Zhong Xu ◽  
Dong Wang ◽  
Yong Zeng
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphism ◽  
Web Of Science ◽  
Meta Analysis ◽  
Genetic Models ◽  
Complex Class ◽  
Related Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Histocompatibility Complex

Abstract The association of major histocompatibility complex class I chain-related gene A (MICA) single nucleotide polymorphism (SNP) rs2596542G>A and hepatocellular carcinoma (HCC) has been broadly studied, with inconsistent results. Therefore, we conducted the current meta-analysis to better elucidate the roles of SNP rs2596542G>A in HCC. Eligible articles were searched in PubMed, CNKI, Wanfang, Embase, VIP, Web of Science, and CBM databases up to November 2018. Odds ratios (ORs) and 95% CIs were applied. A total of 11 articles, including 4528 HCC patients and 16,625 control subjects, were analyzed. Results revealed that rs2596542G>A was significantly associated with HCC in the heterozygote (G/A versus A/A, P=0.006, OR = 0.854; 95% CI: 0.763–0.956); and dominant (G/G + G/A versus A/A; P=0.021; OR = 0.796; 95% CI: 0.655–0.967) genetic models. Nevertheless, we also detected significant associations between rs2596542G>A and HCV-induced HCC. Additionally, according to our analyses, SNP rs2596542G>A was not correlated with HBV-induced HCC. In conclusion, our findings suggest that MICA SNP rs2596542G>A is associated with HCC susceptibility amongst the Asian, Caucasian, and African ethnicity in certain genetic models. Specifically, MICA SNP rs2396542G>A is associated with risk of HCV-induced HCC, not HBV-induced HCC.

scholarly journals The correlation between methylenetetrahydrofolate reductase gene 677C > T polymorphism and fetal congenital defects: A meta-analysis

Pteridines ◽  
2020 ◽  
Vol 31 (1) ◽  
pp. 9-17
Author(s):  
Dexia Li ◽  
Enxia Wang ◽  
Xia Gao ◽  
Ping Li
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Publication Bias ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Random Effect ◽  
Congenital Defects ◽  
Nucleotide Polymorphism ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Increased Risk

AbstractObjective To investigate the correlation between the methylenetetrahydrofolate reductase (MTHFR) gene 677C> T polymorphism and fetal congenital defects.Method Original studies relevant to the MTHFR gene 677C>T single nucleotide polymorphism and fetal congenital defects were systematically searched in the electronic databases of Medline, EMBSE and China National Knowledge Infrastructure (CNKI). All relevant publications were screened for inclusion in the present work. The correlation between the MTHFR gene 677C > T single nucleotide polymorphism and the occurrence of fetal congenital defects was expressed as an odds ratio (OR) and its 95% confidence interval (95% CI). Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test.Results Nineteen case-control studies were ultimately included in the present meta-analysis. The pooled results indicated that the general risk of fetal congenital defects was significantly elevated in subjects with the 677T allele of the MTHFR gene in dominant (OR=1.07,95%CI:1.03-1.12, P<0.05), homozygous (OR=1.17,95%CI:1.06-1.30, P<0.05) and recessive genetic models (OR=1.16,95%CI:1.03-1.31, P<0.05) through the random effect method. However, significant publication bias was identified upon pooling the individual data and evaluating the correlation.Conclusion According to the present evidence, the MTHFR gene 677C>T single nucleotide polymorphism is correlated with poor pregnancy outcomes, and subjects with the T allele have an increased risk of developing general fetal congenital defects.

scholarly journals Single-nucleotide polymorphism associations with preterm delivery: a case–control replication study and meta-analysis

2013 ◽  
Vol 74 (4) ◽  
pp. 433-438 ◽  
Author(s):  
Michael E. O’Callaghan ◽  
Alastair H. MacLennan ◽  
Gai L. McMichael ◽  
Eric A. Haan ◽  
Gustaaf A. Dekker
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Preterm Delivery ◽  
Meta Analysis ◽  
Case Control ◽  
Replication Study ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals The correlation of microRNA-499 rs3746444 T>C locus with the susceptibility of gastric cancer: From a case-control study to a meta-analysis

2020 ◽  
Author(s):  
Guoxiang Rong ◽  
Yongping Zhu ◽  
Weifeng Tang ◽  
Hao Qiu ◽  
Sheng Zhang
Keyword(s):  
Gastric Cancer ◽  
Case Control Study ◽  
Meta Analysis ◽  
Case Control ◽  
Recessive Model ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Relationship ◽  
Allele Model ◽  
Control Study

The relationship between rs3746444 T&gt;C single nucleotide polymorphism (SNP) in microRNA (mir)-499 and risk of gastric cancer (GC) has been widely investigated. However, the association was still unconfirmed. Here, we first recruited 490 GC patients and 1,476 controls, and conducted a case-control study. And we did not find any association between rs3746444 T&gt;C SNP polymorphism and risk of GC. Subsequently, we conducted a meta-analysis to explore the association of mir-499 rs3746444 polymorphism with GC development. Two authors searched the PubMed and EMBASE databases up to October 15, 2019 independently. Finally, nine literatures involving 12 independent studies were included. In total, 3,954 GC cases and 9,745 controls were recruited for meta-analysis. The results suggested that allele model, homozygote model and recessive model could increase the risk of overall GC (P = 0.002, 0.009 and 0.013, respectively). When we excluded the studies violated HWE, this association was also found in allele model (P = 0.020) and dominant model (P = 0.044). In subgroup analyses, we identified that rs3746444 SNP in mir-499 increased the risk of GC in Asians and gastric cardiac adenocarcinoma (GCA) subgroups. No significant bias of selection was found (all P&gt;0.1). Test of sensitivity analysis indicated that our findings were stable. Additionally, we found that the power value was 0.891 in the allele model, suggesting the reliability of our findings. In summary, our analysis confirmed the association between rs3746444 and the risk of GC, especially in Asians and in patients with GCA.

scholarly journals Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies

2011 ◽  
Vol 38 (10) ◽  
pp. 2130-2132 ◽  
Author(s):  
CHUAN WANG ◽  
HEIDI KOKKONEN ◽  
JOHANNA K. SANDLING ◽  
MARTIN JOHANSSON ◽  
MARIA SEDDIGHZADEH ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Interferon Regulatory Factor ◽  
Case Control ◽  
Gene Variants ◽  
Regulatory Factor ◽  
Nucleotide Polymorphism ◽  
Case Control Studies ◽  
Deletion Polymorphism ◽  
Single Nucleotide ◽  
Interferon Regulatory Factor 5

Objective.Two interferon regulatory factor 5 (IRF5) gene variants were examined for association with rheumatoid arthritis (RA).Methods.A total of 2300 patients with RA and 1836 controls were recruited from 2 independent RA studies in Sweden. One insertion-deletion polymorphism (CGGGG indel) and one single-nucleotide polymorphism (rs10488631) in the IRF5 gene were genotyped and analyzed within RA subgroups stratified by rheumatoid factor (RF) and anticitrullinated peptide antibodies (ACPA).Results.The CGGGG indel was preferentially associated with the RF-negative (OR 1.29, p = 7.9 × 10−5) and ACPA-negative (OR 1.27, p = 7.3 × 10−5) RA subgroups compared to the seropositive counterparts. rs10488631 was exclusively associated within the seronegative RA subgroups (RF-negative: OR 1.24, p = 0.016; ACPA-negative: OR 1.27, p = 4.1 × 10−3).Conclusion.Both the CGGGG indel and rs10488631 are relevant for RA susceptibility, especially for seronegative RA.

scholarly journals Association of Glutathione S-transferases (GSTT1, GSTM1 and GSTP1) Genes Polymorphisms with Nonalcoholic Fatty Liver Disease Susceptibility: A Meta-analysis of Case-control Studies

2021 ◽  
Author(s):  
Yi Zhu ◽  
Ming Qiao
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Meta Analysis ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Nonalcoholic Fatty Liver ◽  
Glutathione S Transferases

Abstract Background: Glutathione S-transferases (GSTs) genes single-nucleotide polymorphisms (SNPs) have been connected with the susceptibility of nonalcoholic fatty liver disease (NAFLD), but with inconsistent results across the current evidences. The present work was schemed to explore the association between GSTs genes polymorphisms and the NAFLD vulnerability via meta-analysis.Methods: PubMed, Web of Science, Cochrane Library, China National Knowledge Infrastructure (CNKI) and Wanfang were retrieved for eligible literatures previous to March 10, 2021. The odds ratio (OR) of the dichotomic variables and the standardized mean difference of quantitative variables with corresponding 95% confidence intervals (95%CIs) were computed to evaluate the strength of the associations. The quality of included studies were assessed via using Newcastle-Ottawa Scale (NOS).Results: In total, 7 case-control studies encompassing 804 NAFLD patients and 1362 disease-free controls in this meta-analysis. Ultimately, this analysis included six, five and five studies for GSTM1, GSTT1 and GSTP1 polymorphisms respectively. The pooled data revealed that the GSTs genes single-nucleotide polymorphisms had conspicuous associations with NAFLD susceptibility: for GSTM1, null vs. present, OR=1.46, 95%CI 1.20-1.79, P=0.0002; for GSTT1, null vs. present, OR=1.34, 95%CI 1.06-1.68, P=0.01; for GSTP1, Ile/Val or Val/Val vs. Ile/Ile, OR=1.60, 95%CI 1.23-2.09, P=0.0005.Conclusion: This work revealed that the GSTM1 null, GSTT1 null and GSTP1-Val genotypes might be related to increased NAFLD susceptibility.

scholarly journals GenotypeAnalytics: a RESTFul platform to mine multiple associations between SNPs and drug response in case-control studies

2017 ◽  
Author(s):  
Giuseppe Agapito ◽  
Pietro H Guzzi ◽  
Mario Cannataro
Keyword(s):  
Drug Response ◽  
Case Control ◽  
Web Browsers ◽  
Drug Reactions ◽  
Nucleotide Polymorphism ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Speed Up ◽  
Restful Service

We present GenotypeAnalytics (GA), a RESTFul service that makes it possible to mine association rules from Single Nucleotide Polymorphism (SNP) datasets using standard web browsers. GA can speed up and simplify the analysis of this massive amount of data, highlighting only the SNPs involved, for example, in the development of the disease or responsible for adverse drug reactions to the drug. In this way, the doctor may use this extracted knowledge for a significant improvement in the quality of the treatments.

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.

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