Association of MTHFR A1298C Polymorphism with Preterm Birth: A Meta-Analysis

Author(s):  
Atiyeh Javaheri ◽  
Sahel Khajehnoori ◽  
Elnaz Foroughi ◽  
Rezvan Nasiri ◽  
Soudabeh Farahnak ◽  
...  

Background: A few studies have been conducted to explore the association of MTHFR A1298C (rs1801131) polymorphism with preterm birth risk, the results remain inconsistent. Therefore, we conducted a meta-analysis to derive a more systematic estimation of the association.   Method: Relevant studies were searched by PubMed, EMBASE, CNKI, and Google Scholar up to June 2018. The strength of the association of MTHFR A1298C polymorphism with preterm birth was calculated by odds ratios (OR) with 95% confidence interval (95%CI).   Results: A total of nine case-control studies with 1,609 cases and 14,981 controls were included. Pooled results showed that there was no significant association between MTHFR A1298C polymorphism and preterm birth risk under all five genetic models in overall. However, in the stratified analysis of ethnicity, a significant association between MTHFR A1298C polymorphism and preterm birth risk was observed in the Asians under four genetic models, i.e., allele (C vs. A: OR = 0.960, 95% CI 0.543-0.871, P = 0.002), heterozygote (CA vs. AA: OR = 0.887, 95% CI 0.024-0.457, P = 0.003), dominant (CC+CA vs. AA: OR = 0.965, 95% CI 0.534 -0.935, P = 0.015) and recessive (CC vs. CA+AA: OR = 0.923, 95% CI 0.026-0491, P = 0.004), but not in Caucasians.   Conclusion: This meta-analysis suggested that MTHFR A1298C polymorphism is not associated with preterm birth risk in overall population. However, MTHFR A1298C polymorphism plays an important role in preterm birth development in Asian population.

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 471
Author(s):  
B. Krishna ◽  
Samir Jana ◽  
Aditya Panda ◽  
David Horne ◽  
Sanjay Awasthi ◽  
...  

Reports on the association of TGF-β1 polymorphisms with breast cancer (BC) have been conflicting, inconsistent, inconclusive, and controversial. PubMed, EMBASE, and Google Scholar were used to identify studies on TGF-β1 polymorphisms and BC risk. Data were extracted independently, and of the initial 3043 studies, 39 case-control studies were eligible for inclusion in the meta-analysis. Information from these studies was extracted, and the overall associations of three TGF-β1 polymorphisms (TGF-β1 29>T/C, TGF-β1-509 C/T, and TGF-β1*6A) with BC risk were analyzed using overall allele, homozygous, heterozygous, recessive, and dominant models. None of the three TGF-β1 polymorphisms studied had a significant influence on the development of BC. However, stratified analysis revealed a positive correlation between the TGF-β1 29T>C polymorphism and BC risk according to a heterozygous model of the Asian population (odds ratio (OR) = 1.115, 95% confidence interval (CI) = 1.006–1.237, p = 0.039). Interestingly, this polymorphism was associated with lower odds of BC according to a heterozygous model of the Middle Eastern population (OR = 0.602, 95% CI = 0.375–0.966, p = 0.035). Thus, our analysis of large datasets indicates that the TGF-β1 29T>C polymorphism is significantly associated with BC risk in the Asian population. In contrast, the TGF-β1*6A and TGF-β1-509 C/T polymorphisms failed to show an association with BC.


2019 ◽  
Author(s):  
Vandana Rai

AbstractMethylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme involved in homocysteine/methionone metabolism. It catalyzes the conversion of 5,10methlenetetrahydrofolate in to 5methyltetrahydrofolate. A number of studies have examined the association of MTHFR A1298C polymorphism as risk factor for Alzheimer’s disease (AD), but the results were contradictory. To clarify the influence of MTHFR A1298C polymorphism on Alzheimer’s disease (AD), a meta-analysis of ten case-control studies was carried out. Four electronic databases were searched up to August, 2019 for suitable articles. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to evaluate the association. All statistical analyses were performed by MetaAnalyst program.The results of meta-analysis suggested that except allele contrast model, A1298C polymorphism is not risk for Alzheimer’s disease using overall comparisons in three genetic models (C vs. A: OR= 1.26, 95%CI= 0.912-1.76, p= 0.04; CC+AC vs. AA: OR= 1.43; 95%CI= 0.85-2.44; p=0.05; CC vs. AA: OR= 1.16, 95%CI= .88-1.55, p= 0.51; AC vs. AA: 1.55; 95%CI= 0.81-2.93,p=0.07). Publication bias was absent in all five genetic models. In conclusion, results of present meta-analysis showed no significant association between MTHFR A1298C polymorphism and AD risk.


2019 ◽  
Author(s):  
Vandana Rai

AbstractMethylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism, DNA synthesis and methylation. A number of studies have examined the association of maternal MTHFR A1298C polymorphism with congenital heart disease (CHD) susceptibility; however, the conclusions were contradictory. To clarify the influence of maternal MTHFR A1298C polymorphism on CHD, a meta-analysis of seventeen case- control studies was carried out. Four electronic databases - Pubmed, Google Scholars, Elsevier and Springer Link were searched upto June, 2018 for suitable articles. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to evaluate the association. Meta-analysis was performed by Mix and MetaAnalyst programs. The results of meta-analysis suggested that except co-dominant model, maternal A1298C polymorphism is risk for CHD in fetus using overall comparisons in four genetic models (C vs. A: OR= 1.19, 95% CI= 1.00-1.41, p= 0.04; CC+AC vs. AA: OR= 1.19, 95% CI= 0.97-1.4, p= 0.04; CC vs. AA: OR= 1.46, 95% CI= 1.00-2.13, p= 0.04; AC vs. AA OR= 1.13, 95% CI=0.93-1.36, p= 0.23; CC vs. AC+AA: OR=1.34, 95% CI=1.1-1.6, p=0.01). Publication bias was absent using four genetic models. In conclusion, results of present meta-analysis showed significant association between maternal MTHFR A1298C polymorphism and CHD risk.


Medicina ◽  
2019 ◽  
Vol 55 (6) ◽  
pp. 298 ◽  
Author(s):  
Taheri ◽  
Sarani ◽  
Moazeni-Roodi ◽  
Naderi ◽  
Hashemi

Background and Objectives: Several studies inspected the impact of P2X7 polymorphisms on individual susceptibility to tuberculosis (TB), but the findings are still controversial and inconclusive. To achieve a more precise estimation, we conducted a meta-analysis of all eligible studies on the association between P2X7 polymorphisms and TB risk. Materials and Methods: Relevant studies were identified by searching the PubMed, Web of Science, Scopus and Google scholar databases up to November 2018. Twenty-four full-text articles were included in our meta-analysis. The strength of association between P2X7 polymorphisms and TB risk was evaluated by odds ratios (ORs) and 95% confidence intervals (95% CIs) under five genetic models. Results: The findings of this meta-analysis revealed that the rs3751143 variant significantly increased the risk of TB in heterozygous codominant (OR = 1.44, 95%CI = 1.17−1.78, p = 0.0006, AC vs. AA), homozygous codominant (OR = 1.87, 95% CI = 1.40−2.49, p = 0.0004, CC vs. AA), dominant (OR = 1.50, 95% CI = 1.22−1.85, p = 0.0002, AC + CC vs. AA), recessive (OR = 1.61, 95% CI = 1.25−2.07, p = 0.001, CC vs. AC + AA), and allele (OR = 1.41, 95% CI = 1.19−1.67, p < 0.0001, C vs. A) genetic models. Stratified analysis showed that rs3751143 increased the risk of pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB) in all genetic models. Furthermore, the rs3751143 increased risk of TB in the Asian population. The findings did not support an association between the rs2393799, rs1718119, rs208294, rs7958311, and rs2230911 polymorphisms of P2X7 and TB risk. Conclusions: The findings of this meta-analysis suggest that P2X7 rs3751143 polymorphism may play a role in susceptibility to TB in the Asian population. More well-designed studies are required to elucidate the exact role of P2X7 polymorphisms on TB development.


2017 ◽  
Vol 2 (2) ◽  
pp. 29
Author(s):  
Sedigheh Hamadani ◽  
Mahdieh Kamali ◽  
Sedigheh Hantoushzadeh ◽  
Razieh Sadat Tabatabaee ◽  
Hossein Neamatzadeh ◽  
...  

Objective: Some studies have recently focused on the association between TNF-α polymorphisms and cervical cancer; however, results have been inconsistent. In order to drive a more precise estimation, the present systematic review and meta-analysis is performed to investigate the relationship of the TNF-α rs1800629 and s1799724 polymorphisms with cervical cancer risk. Methods: An electronic search was conducted on PubMed, Web of Science, and Google scholar databases, for papers that describe the association between TNF-α polymorphisms and cervical cancer risk. Results: A number of 24 case-control studies in 22 publications were identified according to the inclusion criteria. The results showed that rs1800629 polymorphism was significantly associated with the increased cervical cancer risk under four genetic models (A vs. G: OR = 1.277, 95% CI: 1.104-1.477, p = 0.001; AA vs. GG: OR = 1.333, 95% CI: 1.062-1.674, p = 0.013; AG vs. GG: OR = 1.307, 95% CI: 1.064-1.605, p = 0.011; and AA+AG vs. GG: OR = 1.324, 95% CI: 1.104-1.587, p = 0.002). In stratified analysis, there was a significant association between rs1800629 polymorphism and cervical cancer risk in the subgroup of Caucasians and African, but not in Asians. However, no statistically significant association was observed between the s1799724 and cervical cancer risk under all genetic models. Furthermore, stratification by ethnicity indicated no association between the s1799724 and cervical cancer risk.Conclusion: the present meta-analysis suggests that the rs1800629 polymorphism of the TNF-α gene was significantly associated with cervical cancer risk, but not s1799724.  


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Xiaozheng Wu ◽  
Wen Li ◽  
Zhenliang Luo ◽  
Yunzhi Chen

AbstractMUC5B promoter rs35705950 T/G gene polymorphism has been associated with the risk of IPF, but the influence of this relationship varies among different populations. In the past 2 years, there were new clinical studies with different results, but none of them reached unified conclusions. Therefore, this study further included the latest case–control studies, integrated their results and carried out meta-analysis on them to draw reliable conclusions. PubMed, EMBASE, CNKI, Wanfang database and VIP Chinese science were searched by a computer to collect the related literatures of MUC5B gene polymorphism and IPF susceptibility published before June 15, 2021. The first author, year of publication, diagnostic criteria and gene frequency were extracted after screened them. Forest plot was drawn and the trial sequential analysis (TSA) was carried out to confirm the stability of the meta-analysis results. Registration number: CRD42021272940. A total of 24 case–control studies (13 studies on the Caucasian, 7 studies on the Asian and 4 studies on the mixed population), and a total of 6749 IPF patients and 13,898 healthy controls were included in this study. The T vs.G, TT vs. GG, GT vs. GG, GT + TT vs. GG and TT vs. GG + GT genetic models of MUC5B promoter rs35705950 T/G polymorphism were associated with IPF risk in all populations, and the effect values were ([OR] 4.12, 95% CI [3.64, 4.67]), ([OR] 10.12, 95% CI [7.06, 14.49]), ([OR] 4.84, 95% CI [3.85, 6.08]), ([OR] 4.84, 95% CI [3.79, 6.19]) and ([OR] 5.11, 95% CI [4.02, 6.49]), respectively. The results of TSA confirmed the stability of the results. Subgroup analysis showed that T vs.G, TT vs. GG, GT vs. GG, GT + TT vs. GG and TT vs. GG + GT genetic models of MUC5B polymorphism were associated with IPF risk in Caucasian population. The effect values were ([OR] 4.50, 95% CI [3.93, 5.16]), ([OR] 10.98, 95% CI [7.59, 15.89]), ([OR] 6.27, 95% CI [5.37, 7.32]), ([OR] 6.30, 95% CI [5.19, 7.64]) and ([OR] 5.15, 95% CI [4.01, 6.61]), respectively. Similar results were also found in Asian and mixed populations. The association strength of the minor T allele in the Caucasian was more significant than that of the Asian population ([OR] 4.50 vs. [OR] 2.39), and the association strength of all genetic models carrying "T" was more significant than that of the Asian population ([OR] 10.98 vs. [OR] 4.29). In Caucasian, Asian and mixed populations, T minor allele carriers were more likely to be susceptible to pulmonary fibrosis, and TT genotype carriers were more likely to be susceptible to IPF than GT genotype carriers. The association between IPF and Caucasian population with minor T allele and all "T" genetic model was more significant than that of Asian population.


2018 ◽  
Vol 64 (10) ◽  
pp. 942-951 ◽  
Author(s):  
Mohammad Zare ◽  
Jamal Jafari-Nedooshan ◽  
Mohammadali Jafari ◽  
Hossein Neamatzadeh ◽  
Seyed Mojtaba Abolbaghaei ◽  
...  

SUMMARY OBJECTIVE: There has been increasing interest in the study of the association between human mutL homolog 1 (hMLH1) gene polymorphisms and risk of colorectal cancer (CRC). However, results from previous studies are inconclusive. Thus, a meta-analysis was conducted to derive a more precise estimation of the effects of this gene. METHODS: A comprehensive search was conducted in the PubMed, EMBASE, Chinese Biomedical Literature databases until January 1, 2018. Odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of the association. RESULTS: Finally, 38 case-control studies in 32 publications were identified met our inclusion criteria. There were 14 studies with 20668 cases and 19533 controls on hMLH1 −93G>A, 11 studies with 5,786 cases and 8,867 controls on 655A>G and 5 studies with 1409 cases and 1637 controls on 1151T>A polymorphism. The combined results showed that 655A>G and 1151T>A polymorphisms were significantly associated with CRC risk, whereas −93G>A polymorphism was not significantly associated with CRC risk. As for ethnicity, −93G>A and 655A>G polymorphisms were associated with increased risk of CRC among Asians, but not among Caucasians. More interestingly, subgroup analysis indicated that 655A>G might raise CRC risk in PCR-RFLP and HB subgroups. CONCLUSION: Inconsistent with previous meta-analyses, this meta-analysis shows that the hMLH1 655A>G and 1151T>A polymorphisms might be risk factors for CRC. Moreover, the −93G>A polymorphism is associated with the susceptibility of CRC in Asian population.


2020 ◽  
Vol 57 (1) ◽  
pp. 91-99
Author(s):  
Mansour MOGHIMI ◽  
Seyed Alireza DASTGHEIB ◽  
Naeimeh HEIRANIZADEH ◽  
Mohammad ZARE ◽  
Elnaz SHEIKHPOUR ◽  
...  

ABSTRACT BACKGROUND: The role of -251A>T polymorphism in the anti-inflammatory cytokine interleukin-8 (IL-8) gene in gastric cancer was intensively evaluated, but the results of these studies were inconsistent. OBJECTIVE: Therefore, we performed a meta-analysis to provide a comprehensive data on the association of IL-8 -251T>A polymorphism with gastric cancer. METHODS: All eligible studies were identified in PubMed, Web of Science, EMBASE, Wanfang and CNKI databases before September 01, 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were derived from a fixed effect or random effect model. RESULTS: A total of 33 case-control studies with 6,192 cases and 9,567 controls were selected. Overall, pooled data showed that IL-8 -251T>A polymorphism was significantly associated with an increased risk of gastric cancer under all five genetic models, i.e., allele (A vs T: OR=1.189, 95% CI 1.027-1.378, P=0.021), homozygote (AA vs TT: OR=1.307, 95% CI 1.111-1.536, P=0.001), heterozygote (AT vs TT: OR=1.188, 95% CI 1.061-1.330, P=0.003), dominant (AA+AT vs TT: OR=1.337, 95% CI 1.115-1.602, P=0.002) and recessive (AA vs AT+TT: OR=1.241, 95% CI 1.045-1.474, P=0.014). The stratified analysis by ethnicity revealed an increased risk of gastric cancer in Asians and mixed populations, but not in Caucasians. Moreover, stratified by country found a significant association in Chinese, Korean and Brazilian, but not among Japanese. CONCLUSION: This meta-analysis suggests that the IL-8 -251T>A polymorphism is associated with an increased risk of gastric cancer, especially by ethnicity (Asian and mixed populations) and country (Chinese, Korean and Brazilian).


Gene ◽  
2018 ◽  
Vol 678 ◽  
pp. 370-376 ◽  
Author(s):  
Abdolkarim Moazeni-Roodi ◽  
Gholamreza Bahari ◽  
Mohsen Taheri ◽  
Hossein Ansari ◽  
Mohammad Hashemi

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