Objective: This study aimed to investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and early neurological deterioration (END) in patients with acute ischemic stroke (AIS) and any possible interactions between specific MTHFR alleles and traditional risk factors among a Han Chinese cohort.
Methods: 434 AIS patients were consecutively recruited between January 2017 and June 2019, including 129 END and 305 non-END cases. A candidate gene association study design was used to analyze the association between MTHFR gene polymorphism and END risk. The polymerase chain reaction-restriction fragment length polymorphism (RFLP) method was employed to genotype the MTHFR C677T polymorphism. The interactional analyses were performed using the multifactor dimensionality reduction test.
Results: Hyperglycemia (odds ratio [OR]: 2.410, 95 % confidence interval [CI]: 1.436-4.046, p = 0.001), neurological function impairment (NIHSS score >5) (OR: 2.158, 95%CI: 1.337-3.484, = 0.002) on admission, and hyperhomocysteinemia (HHcy) (OR: 2.570, 95%CI: 1.229-5.376, = 0.012) were independently associated with END. The TT genotype (OR: 1.710, 95%CI: 1.021-2.863, p = 0.043) and T allele (OR: 1.710, 95%CI: 1.021-2.863, p = 0.043) of this C677T polymorphism were associated with susceptibility to END, and the TT genotype was more common in the subjects with HHcy (OR: 2.525, 95%CI: 1.111-5.739, P = 0.023). In addition, we also found interactions for END risk between the C677T polymorphism and traditional risk factors for END, including: hyperglycemia on admission, drinking, and moderate to severe neurological deficits (OR 1.237, 95 % CI 0.227-6.734), although the results were not statistically significant (p = 0.806).
Conclusions: Our results show a possible association between MTHFR C677T polymorphism and gene-environment interactions with END susceptibility in a Han Chinese cohort.
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http://dx.doi.org/10.1016/j.heliyon.2024.e31003 | DOI Listing |
BMC Cancer
January 2025
Department of Laboratory Medicine, Affiliated Gaozhou People's Hospital, Guangdong Medical University, Maoming, 525200, P.R. China.
Background: DNA hypomethylation and uracil misincorporation into DNA, both of which have a very important correlation with colorectal carcinogenesis. Folate plays a crucial role in DNA synthesis, acting as a coenzyme in one-carbon metabolism, which involves the synthesis of purines, pyrimidines, and methyl groups. MTHFR, a key enzyme in folate metabolism, has been widely studied in relation to neural tube defects and hypertension, but its role in colorectal cancer remains underexplored.
View Article and Find Full Text PDFPharmazie
December 2024
Department of Pharmacology and Toxicology, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia.
: Major Depressive Disorder (MDD) is a prevalent and debilitating mental disorder that has been linked to hyperhomocysteinemia and folate deficiency. These conditions are influenced by the methylenetetrahydrofolate reductase () gene, which plays a crucial role in converting homocysteine to methionine and is essential for folate metabolism and neurotransmitter synthesis, including serotonin. : This study explored the association between and polymorphisms among Saudi MDD patients attending the Erada Complex for Mental Health and Erada Services outpatient clinic in Jeddah, Saudi Arabia.
View Article and Find Full Text PDFJ Oral Biol Craniofac Res
January 2025
Researcher at the Egyptian Ministry of Health, PO Box 2111, Tanta, Egypt.
Cleft lip and palate (CLP) are a usually inherited anomaly described as a gap in the oral cavity's upper lip and/or roof. The etiology of CLP involves both genetic and environmental factors. The current study aimed to examine the genetic basis of nonsyndromic (NS) CLP (NSCL/P) and its association with specific genetic polymorphisms.
View Article and Find Full Text PDFCase Rep Genet
January 2025
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, 2825 50th Street, Davis, Sacramento 95817, California, USA.
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.
View Article and Find Full Text PDFInt J Fertil Steril
January 2025
Department of General Surgery, Faculty of Medicine, Tbilisi State Medical University, Tbilisi, Georgia.
Background: Over the past decade, numerous studies have been conducted to determine the role of homocysteine and methylenetetrahydrofolate reductase () gene polymorphisms in the pathogenesis of polycystic ovary syndrome (PCOS), yet the results are inconsistent. The aim of the current study was to determine the association between homocysteine levels (Hcy), ) and A1298C polymorphisms, and pregnancy outcomes in Georgian women with PCOS.
Materials And Methods: This case-control study included 177 female participants, of which 96 women were diagnosed with PCOS, and 81 age-matched women were without PCOS.
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