Background: The association between methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism and adult stroke remains controversial. The present article was designed to clarify this relationship through pooled analysis of the numerous epidemiological studies focusing on this association.
Methods: We comprehensively searched all published papers in electronic database including PubMed, Embase, Web of Science, Chinese Biomedical Literature on disc (CBMdisc) and China National Knowledge Infrastructure (CNKI) up to 2013. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) for allelic (C allele vs. A allele), additive (CC vs. AA), dominant (CC+AC vs. AA), and recessive (CC vs. AA+AC) models were calculated. Subgroup and sensitivity analyses were performed to detect the heterogeneity and examine the reliability of results, respectively. Begg's funnel plots and Egger's regression test were used to assess the potential publication bias.
Results: A total of fifteen studies containing 2,361 cases and 2,653 controls were included in the final meta-analysis. The combined results of overall analysis showed that there was significant association between MTHFR gene A1298C polymorphism and adult stroke (allelic model: OR=1.36, 95% CI=1.11-1.67; additive model: OR=1.88, 95% CI=1.12-3.18; dominant model: OR=1.33, 95% CI=1.08-1.65 and recessive model: OR=1.77, 95% CI=1.07-2.94, respectively). On subgroup analysis by ethnicity of study population, significant association was shown in meta-analysis based on Asian population (allelic model: OR=1.40, 95% CI=1.19-1.65; additive model: OR=2.58, 95% CI=1.34-4.96; dominant model: OR=1.44, 95% CI=1.20-1.73 and recessive model: OR=2.12, 95% CI=1.20-3.76, respectively), but not in Caucasian population (allelic model: OR=1.30, 95% CI=0.93-1.82; additive model: OR=1.65, 95% CI=0.81-3.33; dominant model: OR=1.17, 95% CI=0.86-1.61 and recessive model: OR=1.70, 95% CI=0.83-3.50, respectively). In addition, the heterogeneity was effectively removed or decreased by limiting the included studies with population of Asian ethnicity. Furthermore, the corresponding pooled ORs were not materially changed in all genetic models of meta-analysis after limiting the included studies with population-based controls. However, except the recessive model, publication bias presented in the allelic, additive, dominant models identified by the Begg's funnel plots and Egger's regression test.
Conclusions: In conclusion, the overall analysis suggests that MTHFR gene A1298C polymorphism plays an important role in the development of adult stroke. Genotype CC of MTHFR-1298A/C could increase the risk of stroke and may act as a predictor for clinical evaluation, especially in the Asian population. More studies with large-scale and different ethnicities are required to further confirm our findings.
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http://dx.doi.org/10.1159/000369122 | DOI Listing |
Front Cell Dev Biol
December 2024
Department of Medical Oncology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Aim: This study aims to compare the efficiencies and toxicities of pegylated liposomal doxorubicin (PLD) based and epirubicin based chemotherapeutic regimens as neoadjuvant chemotherapy (NAC) for early breast cancer.
Patients And Methods: We retrospectively analyzed 391 patients with stage II-III breast cancer who received NAC in multiple centers. The efficiencies and toxicities of PLD and epirubicin based NAC regimens were compared by using both propensity-score matched (PSM) and unmatched data.
J Cereb Blood Flow Metab
January 2025
McCance Center for Brain Health, Massachusetts General Hospital, Boston, MA, USA.
Spontaneous intracerebral hemorrhage(ICH) represents a life-threatening form of stroke, marked by its impact on survival and quality of life. ICH can be categorized from monogenic disorders linked to causal germline variants in ICH-related genes to complex sporadic cases, highlighting the interaction among lifestyle factors, environmental influences, and genetic components in determining risk. Among sporadic ICH, the influence of these factors varies across ICH subtypes, evidenced by heritability rates of up to 73% for lobar ICH versus 34% for non-lobar ICH.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Laboratoire Clément, Avenue d'Eylau, 75016, Paris, France.
A couple presenting with more than 3 years' history of infertility and three miscarriages was tested for serum homocysteine levels and for the two principal MTHFR SNPs: 677C < T and 1298A < C, as per our general policy for patients with infertility of long duration. The woman was found to be wild type for both MTHFR SNPs with a serum homocysteine 10.5 µM, slightly higher than our accepted normal value of 8.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Pediatric Oncology, The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou 510700, Guangdong Province, China.
Objective: To investigate the effect of genetic polymorphism of (rs1801133) on methotrexate (MTX) related toxicity in pediatric mature B-cell lymphoma patients.
Methods: Fifty-eight intermediate and high risk patients under 18 years of age with mature B-cell lymphoma who received 5 g/m MTX (24 h intravenous infusion) in Sun Yat-sen University Cancer Center from August 2014 to December 2021 were included, and their toxicity of high-dose MTX (HD-MTX) were monitored and analyzed.
Results: Among the 58 pediatric patients, the number of CC, CT, and TT genotypes for was 33, 19 and 6, respectively.
In Vivo
December 2024
Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan, R.O.C.;
Background/aim: Hallux valgus (HV) is the most common deformity of the forefoot. Although HV has been strongly associated with a family history, its genetic underpinnings remain unclear. Few studies have examined the relationship between folic acid metabolism, which is critical in normal bone development, and HV.
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