Correlation between methylene tetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and risk of osteoporosis

Pteridines ◽  
2021 ◽  
Vol 32 (1) ◽  
pp. 117-125
Author(s):  
Xiao Chen ◽  
Weiran Zhang ◽  
Jingmin Huang

Abstract Objective To evaluate the correlation between methylene tetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and risk of osteoporosis. Methods We searched the clinical studies related to MTHFR gene rs1801133 C>T polymorphisms and risk of osteoporosis in the electronic databases of PubMed, Web of Science, EMBASE, China National Knowledge Infrastructure (CNKI), Chinese BioMedical Literature Database (CBM) and included the suitable publications in the present meta-analysis according to the inclusion and exclusion criteria. The data of included studies were extracted and pooled by a random or fixed-effect model. The odds ratio (OR) and 95% confidence interval (95% CI) were applied to demonstrate the correlation between MTHFR gene rs1801133 C>T polymorphisms and the risk of osteoporosis. Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test. Results Seven case–control clinical studies were included and a data combination was made. The data was pooled by the fixed effect model because of no obvious statistical heterogeneity. The pooled results indicated that people with the T allele had increased risk of developing osteoporosis under the homologous gene model (TT vs CC) (OR = 2.36, 95% CI: 1.81–3.08, p < 0.05), dominant gene model (TT + CT) vs CC (OR = 1.47, 95% CI: 1.21–1.77, p < 0.05) and recessive gene model TT vs (CC + CT) (OR = 2.16, 95% CI: 1.71–2.74, p < 0.05). Egger’s line regression test indicated no significant publication bias for the present meta-analysis in the above homologous, dominant, and recessive gene models. Conclusion The MTHFR gene rs1801133 C>T polymorphisms are associated with osteoporosis and subjects with the T allele have an increased risk of developing osteoporosis.

Pteridines ◽  
2019 ◽  
Vol 30 (1) ◽  
pp. 126-132
Author(s):  
Huafeng Jiang ◽  
Yi Shen

Abstract Background: Methylene tetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Single nucleotide polymorphisms (SNP) of MTHF rs1801133 C>T can influence susceptibility to colorectal cancer. However, an association between MTHFR rs1801133 C>T polymorphisms and response to 5-Fluorouracil (5-FU) based chemotherapy in patients with colorectal cancer was not clear. Methods: Studies relevant to MTHFR rs1801133 C>T polymorphisms and response to 5-FU based chemotherapy in patients with colorectal cancer were systematic searched in the electronic databases of PubMed, Web of Science, Embase, and China National Knowledge Infrastructure (CNKI). The genotypes of CC, CT, and TT were extracted from each included publication. The genotypes CC, CT, and TT distribution in 5-FU based chemotherapy response and resistance groups were calculated and pooled through random or fixed effect model by the effect size of odds ratio (OR) and 95% confidence interval (95% CI). The publication bias was evaluated through Begg’s funnel plot and Egger’s line regression test. Results: After searching the electronic databases, 16 studies related to MTHFR gene rs1801133 C>T polymorphisms and a response to 5-FU based chemotherapy in patients with colorectal cancer were included in the present meta-analysis. The pooled data showed no statistical difference in tumor response rate between CT+TT and CC groups in the dominant genetic model CT+CC vs CC (OR=1.21, 95% CI: 0.93~1.59, p>0.05) and recessive model TT vs CT+CC (OR=1.37, 95% CI: 0.91~2.06, p>0.05). The grade 3-4 adverse reaction rate between CT+TT and CC groups also had no statistical difference in the dominant genetic model CT+CC vs CC (OR=0.90, 95% CI: 0.76~1.07, p>0.05) and recessive model TT vs CT+CC (OR=1.12, 95% CI: 0.84~1.50, p>0.05). The Begg’s funnel plot and Egger’s line regression test demonstrated no publication bias. Conclusion: The response and adverse reaction of 5-FU based chemotherapy in colorectal patients were not different in terms of MTHFR rs1801133 C>T polymorphisms.


2013 ◽  
Vol 23 (3) ◽  
pp. 422-430 ◽  
Author(s):  
Yue Teng ◽  
Caiyun He ◽  
Xiaohang Zuo ◽  
Xu Li

ObjectiveDisordered metabolism of estrogen is believed to play a significant role in endometrial carcinogenesis. Recently, a number of studies have been conducted to identify the role of estrogen-related gene polymorphism in endometrial cancer risk, generating conflicting conclusions. This meta-analysis aimed to assess the association between genetic polymorphisms involving estrogen metabolic enzymes and endometrial cancer risk.MethodsA systematic search of 6 databases was conducted. Fourteen studies on the association of COMT (catechol-O-methyltransferase) Val158Met, CYP1B1 Leu432Val, and CYP1B1 Asn453Ser polymorphisms with endometrial cancer risk were identified, enrolling a total of 4283 cancer cases and 7094 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the relationship.ResultsIn CYP1B1 Leu432Val(rs1056836) analysis, the heterozygous genotype (CG) demonstrated an increased risk for endometrial cancer (Val/Leu vs Leu/Leu: pooled OR, 1.11; 95% CI, 1.01–1.23;P= 0.039;I2= 10.5%; (Val/Val +Val/Leu) vs Leu/Leu: pooled OR, 1.19; 95% CI, 1.03–1.38;P= 0.017;I2= 54.7%). As for CYP1B1 Asn453Ser(rs1800440) polymorphism, a decreased risk was observed in G allele compared with A allele (Ser vs Asn: pooled OR, 0.82; 95% CI, 0.72–0.94;P= 0.005;I2= 0.0%), and heterozygous genotype also showed a decreased risk compared with normal genotype (Ser/Asn vs Asn/Asn: pooled OR, 0.81; 95% CI, 0.69–0.95;P= 0.011;I2= 0.0%). As for COMT Val158Met (rs4680) polymorphism, the heterogeneous genotype showed a decreased risk for endometrial cancer compared with the common homogenous genotype in a fixed-effect model in Asian population (Met/Val vs Val/Val: pooled OR, 0.83; 95% CI, 0.70–0.98;P= 0.033;I2= 29.2%), whereas no positive results are found in other subgroups or models.ConclusionsCOMT Val158Met was seen to show a decreased risk for endometrial cancer in Asian population. CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endometrial cancer, respectively. Further large and comprehensive studies in various populations with more detailed individual data are needed to confirm our findings.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Jingjing Liu ◽  
Qinlan Xu ◽  
Hongchuan Niu ◽  
Rong Wang ◽  
Xun Ye ◽  
...  

Abstract Background Surgery is a conventional mature treatment for moyamoya disease (MMD). However, whether surgery is also an effective therapy for epileptic type MMD has seldom been investigated systematically. The study aims to summarize the pooled postoperative incidence of seizure and cerebral infarction in pediatric patients with epileptic type moyamoya disease. Method The study was a systematic review and critical appraisal with a meta-analysis of cohort studies, both prospective and retrospective. Studies were identified by a computerized search of PubMed, Embase, Web of Science, Wanfang, and CNKI databases. In a literature search, a total of 7 cohort studies were identified. The I2statistic was used to quantify heterogeneity. A fixed-effect model was used to synthesize the results. The linear regression test of funnel plot asymmetry was used to estimate the potential publication bias. Results The pooled estimated postoperative incidence of seizure in pediatric patients with epileptic type moyamoya disease was 23.44%. The pooled estimated postoperative incidence of cerebral infarction in pediatric patients with epileptic type moyamoya disease was 9.12%. Low substantial heterogeneity and potential publication bias were present. Conclusions Evidence from this study suggests that the postoperative incidence of seizure and cerebral infarction is relatively low. Surgery is an effective and secure therapy for pediatric patients with epileptic type moyamoya disease.


2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
H. Zhang ◽  
Y. P. Zhou ◽  
H. J. Peng ◽  
X. H. Zhang ◽  
F. Y. Zhou ◽  
...  

The aim of the meta-analysis was to provide more solid evidence for the reliability of the new classification. A systematic literature search was performed using PubMed, Armed Forces Pest Management Board Literature Retrieval System, and Google Scholar up to August 2012. A pooled odds ratio (OR) was calculated using either a random-effect or a fixed-effect model. A total of 16 papers were identified. Among the 11 factors studied, five symptoms demonstrated an increased risk for SDD, including bleeding [OR: 13.617; 95% confidence interval (CI): 3.281, 56.508], vomiting/nausea (OR: 1.692; 95% CI: 1.256, 2.280), abdominal pain (OR: 2.278; 95% CI: 1.631, 3.182), skin rashes (OR: 2.031; 95% CI: 1.269, 3.250), and hepatomegaly (OR: 4.751; 95% CI: 1.769, 12.570). Among the four bleeding-related symptoms including hematemesis, melena, gum bleeding, and epistaxis, only hematemesis (OR: 6.174; 95% CI: 2.66, 14.334;P<0.001) and melena (OR: 10.351; 95% CI: 3.065, 34.956;P<0.001) were significantly associated with SDD. No significant associations with SDD were found for gender, lethargy, retroorbital pain, diarrhea, or tourniquet test, whereas headache appeared protective (OR: 0.555; 95% CI: 0.455, 0.676). The meta-analysis suggests that bleeding (hematemesis/melena), vomiting/nausea, abdominal pain, skin rashes, and hepatomegaly may predict the development of SDD in patients with DF, while headache may predict otherwise.


2020 ◽  
Author(s):  
JINGJING LIU ◽  
Qinlan Xu ◽  
Hongchuan Niu ◽  
Rong Wang ◽  
Xun Ye ◽  
...  

Abstract Background: Surgery is a conventional mature treatment for moyamoya disease (MMD). However, whether surgery is also an effective therapy for epileptic type MMD has seldom been investigated systematically. The study aims to summarize the pooled postoperative incidence of seizure and cerebral infarction in pediatric patients with epileptic type moyamoya disease. Method: The study was a systematic review and critical appraisal with a meta-analysis of cohort studies, both prospective and retrospective. Studies were identified by a computerized search of Pubmed, EMBASE, Web of Science, Wanfang, and CNKI databases. In a literature search, a total of 7 cohort studies were identified. The I2statistic was used to quantify heterogeneity. A fixed-effect model was used to synthesize the results. The linear regression test of funnel plot asymmetry was used to estimate the potential publication bias.Results: The pooled estimated postoperative incidence of seizure in pediatric patients with epileptic type moyamoya disease was 23.44%. The pooled estimated postoperative incidence of cerebral infarction in pediatric patients with epileptic type moyamoya disease was 9.12%. Low substantial heterogeneity and potential publication bias were present.Conclusion: Evidence from this study suggests that the postoperative incidence of seizure and cerebral infarction is relatively low. Surgery is an effective and secure therapy for pediatric patients with epileptic type moyamoya disease.


2020 ◽  
Author(s):  
JINGJING LIU ◽  
Qinlan Xu ◽  
Hongchuan Niu ◽  
Rong Wang ◽  
Xun Ye ◽  
...  

Abstract BackgroundSurgery is a conventional mature treatment for moyamoya disease (MMD). However, whether surgery is also an effective therapy for epileptic type MMD has seldom been investigated systematically. The study aims to summarize the pooled postoperative incidence of seizure and ischemic events in patients with epileptic type moyamoya disease.MethodThe study was a systematic review and critical appraisal with a meta-analysis of cohort studies, both prospective and retrospective. Studies were identified by a computerized search of Pubmed, EMBASE, Web of Science, Wanfang, and CNKI databases. In a literature search, a total of 8 cohort studies were identified. The I2statistic was used to quantify heterogeneity. A fixed-effect model was used to synthesize the results. The linear regression test of funnel plot asymmetry was used to estimate the potential publication bias.ResultsThe pooled estimated postoperative incidence of seizure in patients with epileptic type moyamoya disease was 21.52%. The pooled estimated postoperative incidence of ischemic events in patients with epileptic type moyamoya disease was7.42%. Low substantial heterogeneity and potential publication bias were present.ConclusionEvidence from this study suggests that the postoperative incidence of seizure and ischemic events is relatively low. Surgery is an effective and secure therapy for patients with epileptic type moyamoya disease.


Author(s):  
Hamidreza Totonchi ◽  
Ramazan Rezaei ◽  
Shokoofe Noori ◽  
Negar Azarpira ◽  
Pooneh Mokarram ◽  
...  

Introduction: Several studies have assessed the association between the vitamin D receptor (VDR) polymorphism and risk of metabolic syndrome (MetS). However, the results were inconsistent and inconclusive. Therefore, we conducted a meta-analysis to clarify the exact association between the vitamin D receptor (VDR) polymorphisms and the risk of MetS. Methods: All accessible studies reporting the association between the FokI (rs2228570) or / and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232 polymorphisms of the Vitamin D Receptor and susceptibility to MetS published prior to February 2019 were systematically searched in Web of Science, Scopus, and PubMed. After that, Odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were estimated to evaluate the strength of the association in five genetic models. Results: A total of 9 articles based on four gene variations, and comprising 3348 participants with 1779 metabolic syndrome patients were included. The overall results suggested a significant association between BsmI (rs1544410) polymorphism and MetS susceptibility in recessive model (OR, 0.72, 95% CI, 0.55-0.95, fixed effect model), allelic model (OR, 0.83, 95% CI, 0.72-0.95, fixed effect model), and bb vs BB (OR, 0.65, 95% CI, 0.46-0.93, fixed effect). However, no significant association was identified between TaqI (rs731236) polymorphism, ApaI (rs7975232) polymorphism, and FokI (rs2228570) polymorphism and MetS. Conclusion: This meta-analysis suggested an association between the BsmI (rs1544410) polymorphism and MetS. Indeed, BsmI (rs1544410) acts as a protective factor in the MetS. As a result, the VDR gene could be regarded as a promising pharmacological and physiological target in prevention or treatment of the MetS.


2021 ◽  
Vol 13 (7) ◽  
pp. 3759
Author(s):  
Kim-Ngan Ta-Thi ◽  
Kai-Jen Chuang ◽  
Chyi-Huey Bai

There are still inconsistent results about association between migraine and stroke risk in studies. This paper was to review findings on the association between migraine (with or without aura) and stroke risk. We searched articles in the Embase and PubMed up to January 2021. Two independent reviewers extracted basic data from individual studies using a standardized form. Quality of studies was also assessed using the Newcastle–Ottawa Scale. We conducted a meta-analysis, both classical and Bayesian approaches. We identified 17 eligible studies with a sample size more than 2,788,000 participants. In the fixed effect model, the results demonstrated that migraine was positively associated with the risk of total stroke, hemorrhagic stroke, and ischemic stroke. Nevertheless, migraine was associated with only total stroke in the random effects model (risk ratio (RR) 1.31, 95%CI: 1.06–1.62). The probability that migraine increased total stroke risk was 0.978 (RR 1.31; 95% credible interval (CrI): 1.01–1.72). All types of migraine were not associated with ischemic stroke and hemorrhagic stroke. Under three prior distributions, there was no association between migraine and the risk of ischemic stroke or hemorrhagic stroke. Under the non-informative prior and enthusiastic prior, there was a high probability that migraine was associated with total stroke risk.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e15600-e15600
Author(s):  
Chenyu Sun ◽  
Ce Cheng ◽  
Kelly Kozma ◽  
Gopika Chandra ◽  
Na Hyun Kim ◽  
...  

e15600 Background: Globally, more than 1.8 million people were diagnosed of colorectal cancer (CRC) in 2018, with over 30% of CRC in the rectum. Shift-work, involving circadian disruption, sleep deprivation and lifestyle changes, was designated as a probable cause of cancer by The International Agency for Research on Cancer. Previous studies investigating the impact of permanent night-shift work and rotating shift-work on rectal cancer risk showed controversial results. Thus, this meta-analysis was conducted. Methods: A comprehensive literature search on PubMed was conducted to identify all relevant studies published prior to January 2021 according to the established inclusion criteria. The quality assessment was performed by the Newcastle-Ottawa Scale (NOS). The pooled odds ratio (OR) and 95% confidence intervals (CI) were calculated to estimate the association between the shift-work and rectal cancer risk. Based on heterogeneity significance, random-effect or fixed-effect model was used. Subgroup analyses were conducted to explore the night-shift and rotating-shift, respectively. Sensitivity analysis and publication bias detection were performed, and trim and fill analysis was also conducted. All statistical analyses were performed using RevMan software (version 5.3; Cochrane library) and STATA 15.0 statistical software (Stata Corp., College Station, TX), and all P values were two-tailed, the test level was 0.05. Results: Thirty-seven articles were obtained from database searching. Three articles involving 1,063 rectal cancer cases were included. All studies were considered moderate to high quality. All included studies investigated on the association between shift-work and rectal cancer risk. A statistically significant association between shift-work and increased rectal cancer risk was found (OR 1.53, 95%CI: 1.31, 1.79, P< 0.00001, I 2 = 35%). In subgroup analyses, night-shift work was associated with a non-statistically significant increased risk of rectal cancer (OR 1.25, 95%CI: 0.47, 3.32, P = 0.66, I 2 = 93%). In contrast, Rotating-shift was associated with a statistically significant increased rectal cancer risk (OR 1.35, 95%CI: 1.10, 1.65, P = 0.004, I 2 = 6%). Sensitivity analysis confirmed the stability of the result. Funnel plot, Egger's test (t = 1.69, P = 0.341), and Begg's test (z = 1.04, P = 0.296) found no publication bias of analysis. Trim and fill analysis on fixed-effect model showed the pooled OR kept stable after adding two “missing” studies (OR 1.403, 95%CI: 1.224, 1.609, P <0.05). Conclusions: The current meta-analysis demonstrates that shift-work is associated with increased rectal cancer risk. However, no association between night-shift work and rectal cancer risk was found. In contrast, association between rotating-shift work and increased rectal cancer risk was found. More original studies on this topic are needed to further explore shift-work impacts on rectal cancer risk.


2021 ◽  
Author(s):  
Long-Shan Yang ◽  
Guang-Xiao Meng ◽  
Zi-Niu Ding ◽  
Lun-Jie Yan ◽  
Sheng-Yu Yao ◽  
...  

Abstract Background Glycemic index (GI), glycemic load (GL), and carbohydrates have been shown to be associated with a variety of cancers, but their correlation with hepatocellular carcinoma (HCC) remains controversial. The purpose of our study was to investigate the correlation of GI, GL and carbohydrate with risk of HCC.Methods Systematic searches were conducted in PubMed, Embase and Web of Science until November 2020. According to the size of heterogeneity, the random effect model or the fixed effect model was performed to calculate the pooled relative risks (RRs) and 95% confidence intervals (CIs) for the correlation of GI, GL, and carbohydrates with the risk of HCC.Results Seven cohort studies involving 1,193,523 participants and 1,004 cases, and 3 case-control studies involving 827 cases and 5,502 controls were eventually included. The pooled results showed no significant correlation of GI (RR=1.11, 95%CI 0.80-1.53, I2= 62.2%), GL (RR=1.09, 95%CI 0.76-1.55, I2 = 66%), and carbohydrate (RR=1.09, 95%CI 0.84-1.32, I2=0%) with the risk of HCC in general population. Subgroup analysis revealed that in hepatitis B virus (HBV) or/and hepatitis C virus (HCV)-positive group, GI was not correlated with the risk of HCC (RR=0.65, 95%CI 0.32-1.32, p=0.475, I2=0.0%), while GL was significantly correlated with the risk of HCC (RR=1.52, 95%CI 1.04-2.23, p=0.016, I2=70.9%). In contrast, in HBV and HCV-negative group, both GI (RR=1.23, 95%CI 0.88-1.70, p=0.222, I2=33.6%) and GL (RR=1.17, 95% CI 0.83-1.64, p=0.648, I2=0%) were not correlated with the risk of HCC. Conclusion A high GL diet is correlated with a higher risk of HCC in people with hepatitis virus. A low GL diet may be recommended for patients with viral hepatitis to reduce the risk of HCC.


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