Association of MTHFR, SLC19A1 Genetic Polymorphism, Serum Folate, Vitamin B12 and Hcy Status with Cognitive Functions in Chinese Adults

Abstract

Background/Aim: Studies have indicated a relationship between either gene polymorphism or in vivo B vitamins’ nutritional status with cognition in the elderly. However, the combined effects of MTHFR and SLC19A1gene polymorphism with serum folate and vitamin B12 levels on cognition in Chinese adult population remain unclear. Methods: Demographic information of 426 Chinese adults aged from 55 to 90 were collected by a well designed self-administered questionnaire. The Montreal Cognitive Assessment test was utilized to evaluate the cognition status of the participants. MTHFR and SLC19A1 genotyping was analyzed using polymerase chain reaction-ligase detection reaction (PCR- LDR) method. Serum folate, vitamin B12 and homocysteine (Hcy) levels were detected by commercial assay kits. Pearson’s correlation was used for data analyses and statistical significance was set at p < 0.05. Results: Serum Hcylevels demonstrated a negative correlation with serum folate (r = −0.301) and vitamin B12 (r = −0.292) levels. The negative correlation found between serum Hcy levels and attention ability was observed in all 426 studied subjects (r = −0.122). Subjects with MTHFR 677 T/T and 1298 A/A genotypes demonstrated a higher serum Hcy levels (p < 0.05). Carriers of MTHFR (1298 A/C + C/C and 1793 G/A) and SLC19A1 80 G/G genotypes showed lower abstraction and delayed memory ability, respectively (p < 0.05). Subjects with MTHFR 1793 G/A genotype along with low serum folate concentration demonstrated the lowest name and orientation abilities. The effects of MTHFR 1793 G/A genotype on cognitive performance were dependent on the status of serum vitamin B12. Conclusion: Cognition of adults was associated with MTHFR, SLC19A1 gene polymorphism and serum Hcy levels. This study clearly establishes a combined effect of MTHFR gene polymorphism and serum B vitamins levels on cognition in Chinese adults.

MTHFR C677T polymorphism is associated with follicle-stimulating hormone levels and controlled ovarian hyperstimulation response: a retrospective study from the clinical database

“…Folate metabolism influences ovarian function, implantation, embryogenesis, and the whole process of pregnancy (31). Several studies have shown that folate metabolic disorders were connected with higher risk of infertility, such as endometriosis, recurrent miscarriage, hyperhomocysteine (32)(33)(34). MTHFR is an important enzyme for folate metabolism, which is involved in the usability of the methyl donors by catalyzing the conversion of 5, 10-methylenetetrahydrofolate to 5methyltetra-hydrofolate, and plays an important part in the regulation of methionine to homocysteine in folate metabolism (35).…”

The role of MTHFR C677T and ALDH2 Glu504Lys polymorphism in acute coronary syndrome in a Hakka population in southern China

“…Similar findings were also observed in ACS patients of Asian, Caucasian and African descent [34][35][36]. The discrepancy between the results from across several studies is unclear and may be due to differences in nutritional intake or deficiencies required for the MTHFR pathway, such as folate, pyridoxal phosphate (B6) or methylcobalamin (B12), or ethnic populations and genetic backgrounds exist [37][38][39].…”

Association of Methylenetetrahydrofolate Reductase C677T Gene Polymorphisms with Mild Cognitive Impairment Susceptibility: A Systematic Review and Meta-Analysis

“…It has been reported that MTHFR C677T (rs1801133) gene variants result in lowered catalytic activity and are associated with elevated blood Hcy concentration [18,45], which leads to a decline in cognitive function [30,[46][47][48]. It was found that adult cognition was associated with MTHFR gene polymorphisms and serum Hcy levels [49]. However, several subsequent studies have shown that MTHFR C677T (rs1801133) polymorphisms are not associated with individual changes in cognitive function [23,50,51].…”