scholarly journals Transcriptionally Less Active Prodynorphin Promoter Alleles are Associated with Temporal Lobe Epilepsy: A Case-Control Study and Meta-Analysis

2008 ◽  
Vol 24 (3) ◽  
pp. 135-140 ◽  
Author(s):  
Marcelo A. Kauffman ◽  
Damián Consalvo ◽  
Moron Dolores Gonzalez ◽  
Silvia Kochen
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Fixed Effects ◽  
Association Studies ◽  
Hippocampal Sclerosis ◽  
Meta Analysis ◽  
Case Control ◽  
Healthy Controls ◽  
Fixed Effects Model ◽  
Familial Predisposition

We performed an association study in a population of patients with Mesial Temporal Lobe Epilepsy (TLE) with Hippocampal Sclerosis (MTEHS) together with a systematic revision of the literature to investigate the role of transcriptionally less active polymorphic alleles of Prodynorphin (PDYN) gene in this pathology. We included 102 patients with a diagnosis of MTEHS and 86 healthy controls. The positive antecedent of family history for epileptic events defined a TLE subgroup with familial predisposition for epileptic disorders. The PDYN promoter polymorphism was genotyped by means of a PCR assay. For meta-analysis, we identified case-control association studies between TLE and PDYN by searching PUBMED. The pooled OR was estimated using a fixed effects model under dominant and co-dominant heredity models. No differences in genotypic and allelic frequencies were found between cases and controls (p= 0.61) in our population, neither in the whole cohort nor in the analysis limited to TLE with familial predisposition (p= 0.71). The Meta-Analysis included 591 TLE patients and 1117 healthy controls. We found an association between L allele (p= 0.003; OR = 1.40; IC 95 = 1.12–1.74) and a modestly higher risk to develop TLE in the group of patients with familial predisposition. Therefore, functional allelic variants in the PDYN promoter might modify the risk to develop TLE in subjects with familial predisposition.

scholarly journals Lower circulating adiponectin is associated with higher risk of renal cell carcinoma: A meta-analysis

2020 ◽  
Vol 35 (1) ◽  
pp. 57-64
Author(s):  
Jiajie Fang ◽  
Xuanli Xu ◽  
Qiqi Mao ◽  
Yufan Ying ◽  
Xu Zhang ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Fixed Effects ◽  
Meta Analysis ◽  
Significant Heterogeneity ◽  
Healthy Controls ◽  
Fixed Effects Model ◽  
Increased Risk ◽  
Carcinoma Risk

Background: Changes in circulating adiponectin have been related to the risks of various cancers. However, the association between circulating adiponectin and the risk of renal cell carcinoma has not been fully determined. A meta-analysis was performed to evaluate the relationship between circulating adiponectin and renal cell carcinoma risk. Methods: Observational studies that evaluated the association between circulating adiponectin and renal cell carcinoma risk were identified via a systematic search of PubMed and Embase databases. The difference between circulating adiponectin in renal cell carcinoma cases and healthy controls, and the multivariable adjusted association between circulating adiponectin and renal cell carcinoma risk were evaluated. A random effects model was used if significant heterogeneity existed; otherwise a fixed effects model was applied. Results: Eight case-control studies with 2624 renal cell carcinoma cases and 2904 healthy controls were included. Pooled results showed that circulating adiponectin was significantly lower in renal cell carcinoma cases than in healthy controls (mean difference = −1.08 ug/mL; 95% confidence interval (CI) −1.62, −0.54; P < 0.001). Higher circulating adiponectin was independently associated with a significantly lowered risk of renal cell carcinoma (adjusted odds ratio for 1 SD increment of adiponectin = 0.78; 95% CI: 0.63, 0.96; P = 0.02). Subgroup analyses according to characteristics including study design, ethnics of participants, blood samples, numbers of participants, mean ages of participants, and study quality showed consistent results. Conclusions: Lower circulating adiponectin is associated with increased risk of renal cell carcinoma. The potential pathophysiological mechanisms underlying the role of circulating adiponectin in the pathogenesis of renal cell carcinoma deserve further investigation.

ApoE ɛ4 genotype and the age at onset of temporal lobe epilepsy: A case–control study and meta-analysis

2010 ◽  
Vol 90 (3) ◽  
pp. 234-239 ◽  
Author(s):  
Marcelo Andrés Kauffman ◽  
Damián Consalvo ◽  
Dolores Gonzalez Moron ◽  
Virginia Pujol Lereis ◽  
Silvia Kochen
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Case Control Study ◽  
Meta Analysis ◽  
Age At Onset ◽  
Case Control ◽  
Control Study

scholarly journals Quantitative assessment of the association between GRIA1 polymorphisms and migraine risk

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Xueren Gao ◽  
Jianguo Wang
Keyword(s):  
Fixed Effects ◽  
Meta Analysis ◽  
Asian Population ◽  
Pooled Analysis ◽  
Case Control ◽  
Large Sample Size ◽  
Fixed Effects Model ◽  
Case Control Studies ◽  
Knowledge Infrastructure ◽  
Online Databases

Purpose: The association between GRIA1 rs548294 G>A and rs2195450 C>T polymorphisms and migraine risk has been reported in several case–control studies. However, the results of studies are inconsistent. Thus, we conducted a meta-analysis to more precisely estimate the association of the two polymorphisms with migraine risk. Methods: Eligible studies were retrieved and screened from the online databases (EMBASE, PubMed, Web of Science, Wanfang, and Chinese National Knowledge Infrastructure). The pooled odds ratio (OR) with corresponding 95.0% confidence intervals (CIs) was assessed using random- or fixed-effects model. Results: A total of 1233 cases and 1374 controls from four eligible studies were included. The pooled analysis showed that GRIA1 rs548294 G>A polymorphism was not significantly associated with migraine risk. GRIA1 rs2195450 C>T polymorphism was significantly associated with migraine risk under heterozygous model (CT vs. CC, OR = 1.23, 95%CI = 1.02–1.48, PZ = 0.03). Further subgroup analysis based on ethnicity showed a significant association of GRIA1 rs2195450 C>T polymorphism with migraine risk in Asian population, but not in Caucasian population. Conclusions: Our results indicates that GRIA1 rs2195450 C>T polymorphism is significantly associated with migraine risk. However, the number of studies included in the meta-analysis was small. Thus, more high quality case–control studies with a large sample size are still required to confirm these findings.

scholarly journals Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome–wide interaction study

2013 ◽  
Vol 20 (6) ◽  
pp. 875-887 ◽  
Author(s):  
Anja Rudolph ◽  
Rebecca Hein ◽  
Sara Lindström ◽  
Lars Beckmann ◽  
Sabine Behrens ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Fixed Effects ◽  
Association Studies ◽  
Meta Analysis ◽  
Case Control ◽  
Genome Wide Association Studies ◽  
Genetic Modifiers ◽  
Genome Wide ◽  
A Genome ◽  
Increased Risk

Women using menopausal hormone therapy (MHT) are at increased risk of developing breast cancer (BC). To detect genetic modifiers of the association between current use of MHT and BC risk, we conducted a meta-analysis of four genome-wide case-only studies followed by replication in 11 case–control studies. We used a case-only design to assess interactions between single-nucleotide polymorphisms (SNPs) and current MHT use on risk of overall and lobular BC. The discovery stage included 2920 cases (541 lobular) from four genome-wide association studies. The top 1391 SNPs showing P values for interaction (Pint) <3.0×10−3 were selected for replication using pooled case–control data from 11 studies of the Breast Cancer Association Consortium, including 7689 cases (676 lobular) and 9266 controls. Fixed-effects meta-analysis was used to derive combined Pint. No SNP reached genome-wide significance in either the discovery or combined stage. We observed effect modification of current MHT use on overall BC risk by two SNPs on chr13 near POMP (combined Pint≤8.9×10−6), two SNPs in SLC25A21 (combined Pint≤4.8×10−5), and three SNPs in PLCG2 (combined Pint≤4.5×10−5). The association between lobular BC risk was potentially modified by one SNP in TMEFF2 (combined Pint≤2.7×10−5), one SNP in CD80 (combined Pint≤8.2×10−6), three SNPs on chr17 near TMEM132E (combined Pint≤2.2×10−6), and two SNPs on chr18 near SLC25A52 (combined Pint≤4.6×10−5). In conclusion, polymorphisms in genes related to solute transportation in mitochondria, transmembrane signaling, and immune cell activation are potentially modifying BC risk associated with current use of MHT. These findings warrant replication in independent studies.

scholarly journals Association of HSD17B13 rs72613567: TA Allelic Variant With Liver Disease: Review and Meta-Analysis

2021 ◽  
Author(s):  
Shan Tang ◽  
Jing Zhang ◽  
Tingting Mei ◽  
Wenyan Zhang ◽  
Sujun Zheng ◽  
...  
Keyword(s):  
Liver Disease ◽  
Statistical Analysis ◽  
Fixed Effects ◽  
Meta Analysis ◽  
Allelic Variant ◽  
Random Effects Model ◽  
Healthy Controls ◽  
Fixed Effects Model ◽  
Current Review ◽  
Significant Publication Bias

Abstract AIM: To assess the association of HSD17B13 rs7261356:TA allelic variant with liver disease, we performed the current review and meta-analysis. METHODS: 5 studies were identified by a search of CNKI,CBM,MEDLINE, PubMed, EMBASE, and CENTRAL databases from inception to April 2020. Odds ratios (ORs) with 95% confidence interval (CI) were calculated using random effects model or fixed effects model based on the between-study heterogeneity.The Stata 12.0 software was employed for data analysis.RESULTS: Statistical analysis showed that the HSD17B13 rs7261356:TA allelic variant was associated with HCC compared with CLD (TA vs T OR=0.766, 95% CI=0.682-0.860, P=0.000) or healthy controls(TA vs T OR=0.649, 95% CI=0.431-0.977, P=0.038). But the HSD17B13 rs7261356:TA allelic variant was not associated with NAFLD compared with non-NAFLD(TA vs T OR=0.749, 95% CI=0.517-1.804, P=0.126).Egger’s test revealed no significant publication bias. Conclusion: The present findings suggest HSD17B13 rs7261356:TA allelic variant was association with HCC risk in the entire population studied.

scholarly journals Extrahippocampal Radiomics Analysis Can Potentially Identify Laterality in Patients With MRI-Negative Temporal Lobe Epilepsy

2021 ◽  
Vol 12 ◽  
Author(s):  
E-Nae Cheong ◽  
Ji Eun Park ◽  
Da Eun Jung ◽  
Woo Hyun Shim
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Diagnostic Performance ◽  
Hippocampal Sclerosis ◽  
Characteristic Curve ◽  
External Validation ◽  
Healthy Controls ◽  
Unaffected Side ◽  
Affected Side ◽  
Tertiary Center

Objective: The objective of the study was to investigate whether radiomics features of extrahippocampal regions differ between patients with epilepsy and healthy controls, and whether any differences can identify patients with magnetic resonance imaging (MRI)-negative temporal lobe epilepsy (TLE).Methods: Data from 36 patients with hippocampal sclerosis (HS) and 50 healthy controls were used to construct a radiomics model. A total of 1,618 radiomics features from the affected hippocampal and extrahippocampal regions were compared with features from healthy controls and the unaffected side of patients. Using a stepwise selection method with a univariate t-test and elastic net penalization, significant predictors for identifying TLE were separately selected for the hippocampus (H+) and extrahippocampal region (H–). Each model was independently validated with an internal set of MRI-negative adult TLE patients (n = 22) and pediatric validation cohort with MRI-negative TLE (n = 20) from another tertiary center; diagnostic performance was calculated using area under the curve (AUC) of the receiver-operating-characteristic curve analysis.Results: Forty-eight significant H+ radiomic features and 99 significant H– radiomic features were selected from the affected side of patients and used to create a hippocampus model and an extrahippocampal model, respectively. Texture features were the most frequently selected feature. Training set showed slightly higher accuracy between hippocampal (AUC = 0.99) and extrahippocampal model (AUC = 0.97). In the internal validation and external validation sets, the extrahippocampal model (AUC = 0.80 and 0.92, respectively) showed higher diagnostic performance for identifying the affected side of patients than the hippocampus model (AUC = 0.67 and 0.69).Significance: Radiomics revealed extrahippocampal abnormality in the affected side of patients with TLE and could potentially help to identify MRI-negative TLE.Classification of Evidence: Class IV Criteria for Rating Diagnostic Accuracy Studies.

scholarly journals Genetic Association between Methylenetetrahydrofolate Reductase Gene Polymorphism and Risk of Osteonecrosis of the Femoral Head

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Wei Chai ◽  
Zhendong Zhang ◽  
Ming Ni ◽  
Peiliang Geng ◽  
Zijian Lian ◽  
...  
Keyword(s):  
Femoral Head ◽  
Fixed Effects ◽  
Methylenetetrahydrofolate Reductase ◽  
Association Studies ◽  
Meta Analysis ◽  
Fixed Effects Model ◽  
Candidate Gene Association ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene Polymorphism ◽  
Methylenetetrahydrofolate Reductase Gene

Background. Methylenetetrahydrofolate reductase (MTHFR) SNP rs1801133 has been frequently investigated in recent years. Relevant candidate gene association studies with this SNP and osteonecrosis of the femoral head (ONFH) reported conflicting results. Meta-analysis provides a method to combine these data and to determine the association in a larger sample size.Method. We conducted a systematic search to identify possible studies. Four pooled ORs (odds ratios, T versus C, TT versus CC, TT/CT versus CC, and TT versus CT/CC), along with 95% confidence interval (CI), were calculated to evaluate the association between SNP rs1801133 and ONFH susceptibility. Both fixed effects model and random effects model were used.Findings. We eventually included twelve studies in this analysis, with results showing no overall association between ONFH susceptibility and SNP rs1801133 (T versus C:OR=1.15, 95%CI=0.97–1.38; TT versus CC:OR=1.15, 95%CI=0.91–1.46; TT/CT versus CC:OR=1.09, 95%CI=0.95–1.25; and TT versus CT/CC:OR=1.16, 95%CI=0.93–1.45). When stratified based on ethnicity, the results were still not significant.Conclusion. Our findings are generally supportive of no association between MTHFR SNP rs1801133 and the etiology of ONFH.

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