scholarly journals ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS

Author(s):  
Abdolhamid AMOOEE ◽  
Mohamad Hosein LOOKZADEH ◽  
Seyed Reza MIRJALILI ◽  
Seyed Mohsen MIRESMAEILI ◽  
Kazem AGHILI ◽  
...  

ABSTRACT Introduction: Many published studies have estimated the association of rs2435357 and rs1800858 polymorphisms in the proto-oncogene rearranged during transfection (RET) gene with Hirschsprung disease (HSCR) risk. However, the results remain inconsistent and controversial. Aim: To perform a meta-analysis get a more accurate estimation of the association of rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene with HSCR risk. Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) up to June 30, 2018. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to HSCR. Results: A total of 20 studies, including ten (1,136 cases 2,420 controls) for rs2435357 and ten (917 cases 1,159 controls) for rs1800858 were included. The overall results indicated that the rs2435357 (allele model: OR=0.230, 95% CI 0.178-0.298, p=0.001; homozygote model: OR=0.079, 95% CI 0.048-0.130, p=0.001; heterozygote model: OR=0.149, 95% CI 0.048-0.130, p=0.001; dominant model: OR=0.132, 95% CI 0.098-0.179, p=0.001; and recessive model: OR=0.239, 95% CI 0.161-0.353, p=0.001) and rs1800858 (allele model: OR=5.594, 95% CI 3.653-8.877, p=0.001; homozygote model: OR=8.453, 95% CI 3.783-18.890, p=0.001; dominant model: OR=3.469, 95% CI 1.881-6.396, p=0.001; and recessive model: OR=6.120, 95% CI 3.608-10.381, p=0.001) polymorphisms were associated with the increased risk of HSCR in overall. Conclusions: The results suggest that the rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene might be associated with HSCR risk.

Cephalalgia ◽  
2010 ◽  
Vol 30 (11) ◽  
pp. 1296-1305 ◽  
Author(s):  
Markus Schürks ◽  
Pamela M Rist ◽  
Tobias Kurth

Background and methods: Data on the association between the SLC6A4 5-HTTLPR polymorphism and migraine are conflicting. We performed a systematic review and meta-analysis among studies published up to September 2009. For each study with genotype information, we calculated odds ratios (OR) and 95% confidence intervals (CI) assuming additive, dominant, and recessive genetic models. We then calculated pooled ORs and 95% CIs. Results: Among the ten studies identified there was no overall association between the polymorphism and any migraine for Europeans or Asians. However, European women carrying the S allele had an increased risk for any migraine (dominant model: pooled OR = 2.02; 95% CI 1.24–3.28). Results among Europeans further suggested an increased risk for migraine with aura among carriers of the S/S genotype (recessive model: pooled OR = 1.41; 95% CI 0.83–2.40). Conclusions: While our results indicate no overall association between the SLC6A4 5-HTTLPR polymorphism and migraine among Europeans and Asians, gender and migraine aura status may have modifying roles among Europeans.


2020 ◽  
Vol 26 (5) ◽  
pp. 398-402
Author(s):  
Haibo Ge ◽  
Shi Chen ◽  
Jia Zhu

This meta-analysis was conducted to assess the consistency and strength of the relationship between polymorphism of IL-2 -330T/G and susceptibility to pulmonary tuberculosis (TB). PubMed, Web of Knowledge and CNKI were searched to find eligible studies about the relationship between IL-2 -330T/G polymorphism and susceptibility to pulmonary TB. A total of eight studies comprising 971 cases and 1519 controls were grouped together for the purpose of elucidating the relationship between polymorphism of IL-2 -330T/G and pulmonary TB susceptibility. The allele model (G vs. T: odds ratio (OR) = 1.34; 95% confidence interval (CI) 1.05–1.71, Phet = 0.001) and the recessive model (GG+GT vs. TT: OR = 1.60; 95% CI 1.08–2.38, Phet = 0.0001) showed an increased risk of development of pulmonary TB. However, the homozygous model (GG vs. TT: OR = 1.74; 95% CI 0.98–3.09, Phet = 0.0005) and the dominant model (GG vs. TT + TG: OR = 1.30; 95% CI = 0.80-2.14, Phet =  0.001) failed to show an increased incidence of pulmonary TB. When analysis was stratified by ethnicity, no obvious associations were identified in the Caucasian subgroup under all four genetic models. Additionally, heterogeneity disappeared in the analysis of Caucasian subgroup. Our combined data suggested that there was no association between IL-2 -330T/G polymorphism and pulmonary TB among Caucasians.


2021 ◽  
Author(s):  
Yuqing Wang ◽  
Fanqiang Meng ◽  
Jing Wu ◽  
Huizhong Long ◽  
Jiatian Li ◽  
...  

Abstract Background: Adipokines gene polymorphisms are speculated to have associations with the risk of osteoarthritis (OA), but evidences remain conflicting. This study therefore aimed to examine the potential associations between adipokines gene polymorphisms and OA.Methods: A systematic search was performed on PubMed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), and Wanfang up to March 31, 2020. Meta-analysis was carried out by focusing on associations between adipokines gene polymorphisms and OA with allele model, dominant model, recessive model, homozygote model, and heterozygote model.Results: The present meta-analysis included 13 studies containing 3,661 OA patients and 4,864 controls for analysis. Significant associations were observed between ADIPOQ rs2241766 and OA in Asians (dominant: OR = 1.35, 95% CI 1.03-1.78; heterozygote: OR = 1.43, 95% CI 1.07-1.19), between LEPR rs1137101 and OA in the overall population (recessive: OR = 0.40, 95% CI 0.21-0.79; homozygote: OR = 0.38, 95% CI 0.18-0.79), between VISFATIN rs4730153 and OA in Asians (allele: OR = 0.58, 95% CI 0.41-0.83; dominant: OR = 0.57, 95% CI 0.39-0.83; heterozygote: OR = 0.59, 95% CI 0.40-0.86), and between VISFATIN rs16872158 and OA in Asians (allele: OR = 1.84, 95% CI 1.26-2.68; dominant: OR = 1.94, 95% CI 1.31-2.89; heterozygote: OR = 1.97, 95% CI 1.31-2.95).Conclusions: Adipokines gene polymorphisms may be associated with OA. In particular, associations were observed in ADIPOQ rs2241766, LEPR rs1137101, VISFATIN rs4730153, and VISFATIN rs16872158 in the present study. PROSPERO registration number: CRD42020187664.


2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Zhi Li ◽  
Jin Wang ◽  
Hui-bing Chen ◽  
Xiao-Mei Guo ◽  
Xiao-Ping Chen ◽  
...  

Background. MicroRNA-423 (miR-423) rs6505162 polymorphism is found to be associated with breast cancer (BC) risk. However, the results were inconsistent. This study meta-analyzed the literature on possible association between rs6505162 polymorphism and BC risk. Methods. PubMed, Embase, Google Scholar, and the Chinese National Knowledge Infrastructure (CNKI) databases were systematically searched to identify relevant studies. Meta-analyses were performed to examine the association between rs6505162 polymorphism and BC. Results. None of the five genetic models suggested a significant association between rs6505162 polymorphism and BC risk: allelic model, OR 1.02, 95% CI 0.18–1.28, P = 0.85 ; recessive model, OR 0.99, 95% CI 0.72–1.38, P = 0.97 ; dominant model, OR 0.93, 95% CI 0.72–1.21, P = 0.60 ; homozygous model, OR 1.04, 95% CI 0.66–1.65, P = 0.87 ; and heterozygous model, OR 1.07, 95% CI 0.90–1.28, P = 0.45 . Similar results were obtained in subgroup analyses of Asian, Chinese, and Caucasian patients. Conclusion. The available evidence suggests no significant association between rs6505162 polymorphism and BC risk. These conclusions should be verified in large, well-designed studies.


2019 ◽  
Vol 56 (1) ◽  
pp. 88-94 ◽  
Author(s):  
Majid AFLATOONIAN ◽  
Mansour MOGHIMI ◽  
Mohammad Javad AKBARIAN-BAFGHI ◽  
Majid MOROVATI-SHARIFABAD ◽  
Mohammad Hossein JARAHZADEH ◽  
...  

ABSTRACT BACKGROUND: There is increasing evidence to show that TNF-α -308G>A polymorphism may be a risk factor for celiac disease, but the results are inconsistent. OBJECTIVE: Thus, we aimed to perform a meta-analysis involving published studies up to January 2019 to elucidate the association. METHODS: To assess the effect of TNF-α -308G>A polymorphism on celiac disease susceptibility, we searched PubMed, ISI Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI) databases to identify eligible studies, without restriction. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to celiac disease. RESULTS: A total of 11 studies with 1147 cases and 1774 controls were selected for this meta-analysis. The pooled results indicated that TNF-α -308G>A polymorphism was associated with increased risk of celiac disease (A vs G: OR=2.077, 95% CI=1.468-2.939, P=≤0.001; AA vs GG: OR=8.512, 95% CI=3.740-19.373, P=≤0.001; AA+AG vs GG: OR=1.869, 95% CI=1.161-3.008, P=0.010; and AA+AG vs GG: OR=4.773, 95% CI=3.181-7.162, P≤0.001). Subgroup analysis by ethnicity also revealed significant association in Caucasians. In addition, there was a significant association between TNF-α -308G>A polymorphism and celiac disease risk in Italy, Spain and PCR-FRLP group studies. CONCLUSION: Our meta-analysis suggests that the TNF-α -308G>A polymorphism plays an important role in celiac disease susceptibility. However, our results are still needed to strengthen by further studies in different ethnicities and larger sample sizes.


2019 ◽  
Vol 37 (06) ◽  
pp. 607-612 ◽  
Author(s):  
Guangliang Jia ◽  
Yanxiang Gao ◽  
Chunzhi Li ◽  
Yanqin Zhang

Abstract Objective Whether melatonin receptor 1B (MTNR1B) variants are implicated in gestational diabetes mellitus (GDM) remains unclear. Therefore, we performed this meta-analysis to obtain a more conclusive result on associations between MTNR1B variants and GDM. Study Design Literature research was performed in PubMed, Web of Science, Embase, and China National Knowledge Infrastructure. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Results A total of 17 studies were eligible for analyses. Pooled overall analyses showed that rs1387153 (dominant model: p = 0.0002, OR = 0.78, 95% CI: 0.68–0.89; recessive model: p < 0.0001, OR = 1.46, 95% CI: 1.24–1.73; allele model: p < 0.0001, OR = 0.78, 95% CI: 0.72–0.84), rs4753426 (recessive model: p = 0.01, OR = 1.75, 95% CI: 1.14–2.68; allele model: p = 0.01, OR = 0.69, 95% CI: 0.51–0.93), and rs10830963 (dominant model: p < 0.0001, OR = 0.72, 95% CI: 0.65–0.78; recessive model: p < 0.0001, OR = 1.56, 95% CI: 1.40–1.74; allele model: p < 0.0001, OR = 0.73, 95% CI: 0.69–0.78) variants were all significantly associated with the susceptibility to GDM. Further subgroup analyses by ethnicity of participants yielded similar positive results. Conclusion Our findings indicated that MTNR1B rs1387153, rs4753426, and rs10830963 variants might serve as genetic biomarkers of GDM.


2020 ◽  
Vol 48 (8) ◽  
pp. 030006052094342
Author(s):  
Cunqing Kong ◽  
Miao Chen ◽  
Xiaohui Fan ◽  
Xingcai Chen

Background Interleukin-12 (IL-12) is considered to be a risk factor for cancer; however, its role in hepatocellular carcinoma (HCC) remains unknown. This study aimed to explore the impacts of the IL-12 rs3212227 and rs568408 gene polymorphisms on HCC. Methods We searched PubMed, Embase, Web of Science, and Chinese Knowledge Infrastructure databases for studies on the associations between HCC and IL-12 rs568408 and rs3212227 polymorphisms published prior to 1 May 2020. The effects of the polymorphisms on HCC susceptibility were presented as odds ratios (ORs) and associated 95% confidence intervals. Results Seven studies were ultimately included, including 2375 cases and 3445 controls. The rs3212227 polymorphism was significantly associated with the risk of HCC in both the dominant model (CC+AC vs. AA, OR=1.22) and the allele model (C vs. A, OR=1.12). Combined analysis of rs568408 yielded a significant relative risk for HCC in the dominant (AA+AG vs. GG, OR=1.13), recessive (AA vs. AG+GG, OR=1.72), allele (A vs. G, OR=1.29), heterozygote (AG vs. GG, OR=1.27), and homozygote models (AA vs. GG, OR 1.17). Conclusion The IL-12 rs3212227 and rs568408 gene polymorphisms are associated with an increased risk of HCC.


2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Cheng Tan ◽  
Junzhi Liu ◽  
Jun Wei ◽  
Shoujun Yang

Abstract Background : Several studies investigated the relationship between antisense non-coding RNA in the INK4 locus (ANRIL) variants and the risk of ischemic stroke (IS), yet whether ANRIL variants are associated with IS remain controversial. Therefore, we performed the present study to obtain a more conclusive result. Methods: Literature retrieval was conducted in PubMed, Medline and Embase. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Results: Eighteen studies were enrolled for analyses. Pooled overall analyses showed that rs2383206 (recessive model: P=0.002, OR = 1.22, 95%CI 1.08–1.38; allele model: P=0.003, OR = 0.90, 95%CI 0.84–0.96) and rs10757274 (allele model: P=0.006, OR = 0.91, 95%CI 0.86–0.97) variants were significantly associated with an increased risk of IS. Further subgroup analyses by ethnicity revealed that rs2383206, rs10757274 and rs10757278 variants were all significantly correlated with an increased risk of IS in Asians. Additionally, rs10757278 polymorphism was also significantly correlated with an increased risk of IS in Caucasians. Conclusions: Our findings indicated that rs2383206, rs10757274 and rs10757278 variants may impact individual susceptibility to IS in Asians. Moreover, rs10757278 polymorphism may also impact individual susceptibility to IS in Caucasians.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Dong Wang ◽  
Liqun He ◽  
Xiaotian Zhang

AbstractMany studies tried to assess the relationship between -308G/A polymorphism of tumor necrosis factor alpha (TNF-α) gene and risk of metabolic syndrome (MS), but their results were contradictory. This meta-analysis aimed to precisely evaluate this association. A systematic literature search was performed in Pubmed database and WanFang Med Online, STATA software 14.0 was used for the meta-analysis. Eleven independent studies containing 3277 cases and 3312 controls were included in our meta-analysis. In overall analysis, significant association was found between -308G/A polymorphism of TNF-α and MS in both allele model (OR 1.47, 95% CI 1.09–1.98, P 0.013) and dominant model (OR 1.77, 95% CI 1.21–2.58, P 0.003). In the subgroup analysis, the A allele was associated with increased risk of MS in Asia group (allele model: OR 1.82 95% CI 1.31–2.53, P < 0.001; dominant model: OR 2.30, 95% CI 1.64–3.21 P < 0.001; homozygous model: OR 2.29, 95% CI 1.31–4.01, P 0.004), and decreased risk of MS in Europe group (dominant model: OR 0.83, 95% CI 0.70–0.99, P < 0.001; recessive model: OR 0.51, 95% CI 0.28–0.92, P 0.025; homozygous model: OR 0.49 95% CI 0.27–0.89, P 0.02). The A allele also appeared to linked to increased risk of MS in CDS group and IDF groups. No significant association was observed in NCEPATPIII group. Our results suggested that -308G/A of TNF-α gene was a risk factor for MS, but it may played different roles in different ethnics, further studies with larger sample size and more other ethnics should be performed to confirm our conclusions.


2015 ◽  
Vol 2015 ◽  
pp. 1-17 ◽  
Author(s):  
Ran Ao ◽  
Ying Wang ◽  
Dao-Rong Zhnag ◽  
Ya-Qi Du

Objective. The present meta-analysis investigated the contribution ofTLR4rs4986790A>G and rs4986791C>T genetic polymorphisms in increasing the risk of inflammatory bowel disease (IBD).Methods. Databases were searched using a combination of keywords related toTLR4and IBD. Relevant studies were selected based on strict inclusion and exclusion criteria. Meta-analysis of the data extracted from the selected studies was performed using CMA 2.0 statistical analysis software.Results. Out of the 70 studies retrieved by database search, only 13 studies were eligible for inclusion in this meta-analysis and these 13 studies contained a total number of 4409 IBD patients and 5693 healthy controls. The meta-analysis results demonstrated thatTLR4rs4986790A>G polymorphism is associated with an increased risk of IBD (allele model: OR = 1.268, 95% CI = 1.124~1.431, andP<0.001; dominant model: OR = 1.240, 95% CI = 1.090~1.409, andP=0.001). Similarly, TLR4 rs4986791C>T polymorphism also conferred an increased risk of IBD (allele model: OR = 1.259, 95% CI = 1.092~1.453, andP=0.002; dominant model: OR = 1.246, 95% CI = 1.072~1.447, andP=0.004).Conclusion. Our meta-analysis results demonstrate thatTLR4rs4986790A>G and rs4986791C>T genetic polymorphisms are associated with the etiopathogenesis of IBD.


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