Coexistence of the 677C&gt;T and 1298A&gt;C MTHFR polymorphisms and its significance in the population of Polish women

Wolski, Hubert; Kocięcka, Maria; Mrozikiewicz, A; Barlik, Magdalena; Kurzawińska, Grażyna

doi:10.17772/gp/59559

Cited by 6 publications

(8 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The main result is the protective effect of the MTHFR 1298 AC genotype (OR = 0.67, p = 0.01) and carriage of the C allele (AC+CC genotypes, OR = 0.65, p = 0.009) against RSA ( S1 Table ). The AC genotype frequency in our fertile female population was 47.65%, and it was similar to the frequency of 47.88% reported by Wolski et al [ 29 ] from a study of 662 Polish women. Moreover, in our study, the frequency of the AC genotype of fertile women did not differ significantly from the frequency observed in fertile men.…”

Section: Discussionsupporting

confidence: 91%

“…Moreover, in our study, the frequency of the AC genotype of fertile women did not differ significantly from the frequency observed in fertile men. Also, the frequencies of combined 1298/677 genotypes were similar to those reported by Wolski et al [ 29 ]. It should be noted that the protective 1298 AC genotype appeared mostly in combination with wild-type CC genotype of the 677 polymorphism, and it was more prevalent in the control group, although not significantly ( S2 Table , p = 0.07).…”

Section: Discussionsupporting

confidence: 89%

See 1 more Smart Citation

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population

et al. 2017

View full text Add to dashboard Cite

Almost 1600 individuals from the Polish population were recruited to this study. Among them 319 were fertile couples, 289 were recurrent spontaneous abortion (RSA) couples, and 131 were in the group of recurrent implantation failure (RIF) following in vitro fertilization. The aim of this study was to evaluate the MTHFR c.c.677 C>T and c.c.1298 A>C polymorphisms’ association with RSA and RIF. We used PCR-RFLP with HinfI (677 C>T) and MboII (1298 A>C) digestion. We observed a protective effect of the female AC genotype (OR = 0.64, p = 0.01) and the C allele (AC+CC genotypes; OR = 0.65, p = 0.009) against RSA. Moreover, 1298 AA/677 CT women were more frequent in RSA (31.14%) and RIF (25.20%) groups in comparison to fertile women (22.88%), although this difference was significant only in the case of RSA (p = 0.022, OR = 1.52). Male combined genotype analysis revealed no association with reproductive failure of their partners. Nevertheless, the female/male combination AA/AC of the 1298 polymorphism was more frequent in RSA couples (p = 0.049, OR = 1.49). However, the significant results became insignificant after Bonferroni correction. In addition, analysis of haplotypes showed significantly higher frequency of the C/C haplotype (1298 C/677 C) in the female control group than in the female RSA group (p = 0.03, OR = 0.77). Moreover, the association between elevated homocysteine (Hcy) level in plasma of RSA and RIF women and MTHFR polymorphisms was investigated but did not reveal significant differences. In conclusion, for clinical practice, it is better to check the homocysteine level in plasma and, if the Hcy level is increased, to recommend patients to take folic acid supplements rather than undergo screening of MTHFR for 1298 A>C and 677 C>T polymorphisms.

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 89%

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Polimorfizm R594Q powoduje destabilizację białka, stąd mutacja ta może wpływać na zmiany w aktywności reduktazy MTHFR. Częstość występowania tej mutacji jest zasadniczo mniejsza w porównaniu do 677C>T oraz 1298A>C [14,16].…”

Section: Mutacja Mthfrunclassified

“…Wymienione w tabeli 1 polimorfizmy znacznie częściej występują wśród populacji kaukaskiej, czyli również w Polsce, rzadziej u rasy żółtej, a najrzadziej w przypadku rasy czarnej [15,16]. W tabeli 1 przedstawiono częstość występowania poszczególnych rodzajów polimorfizmów wśród rasy kaukaskiej, uwzględniając również wpływ na aktywność enzymu.…”

Section: Mutacja Mthfrunclassified

The importance of folic acid for the health of the human body

Banyś¹,

Knopczyk²,

Bobrowska-Korczak³

2020

Farm Pol.

View full text Add to dashboard Cite

The importance of folic acid for the health of the human body A well-balanced diet is undoubtedly a key factor to maintain your body's normal state of health. Folic acid is one of the elements of the diet, which is often supplied in insufficient quantities. This vitamin and its derivatives participate in the metabolism of amino acids and nucleic acids. Therefore, it is necessary for the proper functioning of the body's cells and for maintaining homeostasis, especially of the nervous, circulatory and cardiovascular systems. The biological activity of folic acid and its derivatives essentially affects the metabolism of important amino acids, such as methionine, homocysteine, serine, glycine, pyrimidine and purine synthesis and DNA methylation. The synthetic form of folic acid (most oxidized), which can be found in fortified foods, dietary supplements or pharmaceuticals, does not show biological activity. It is transformed in a series of reactions with the participation of many enzymes to form folates, which differ in the number of glutamic acid residues and the degree of oxidation. The actively biological form is reduced folate (L-5-MTHF), which is transported together with the blood to cells where it undergoes biological processes important for our health. The MTHFR gene, coding for the enzyme protein of the same namemethylene tetrahydrofolate reductase, is located on chromosome 1 at the 1p36.3 locus. This protein is responsible for the catalysis of the enzymatic reaction, which is the reduction of 5,10-methylenetetrahydrofolate to L-5-methyltetrahydrofolate, i.e. the active form of folate. This form is necessary in the process of homocysteine degradation, in the aftermath remethylation to methionine. This form is necessary in the process of homocysteine degradation, in the aftermath remethylation to methionine. However, according to available literature, mutation of the MTHFR 677C> T gene occurs in even 53% of the population. Among carriers of the TT genotype, it can cause about 70% reduction of MTHFR reductase activity. It is especially dangerous for people who do not provide adequate amounts of folic acid along with their diet and for those who need a high amount of this vitamin, e.g. due to taking medications that reduce its absorption. Many people metabolize folic acid on insufficient levels. For medical reasons, not the mutation itself is a problem, but too low the folate levels. In recent years, there is more and more discussion about the active form of folic acid and the possibility of effective supplementation with Adres do korespondencji

show abstract

“…Another risk factor predisposing to increasing the dose of folic acid to 0.8 mg/day is the MTHFR gene mutation. On the other hand, in women with diagnosed neural tube defects in their offspring, mother or father, the recommended dose of supplementation should be 5 mg/ day, taking into account active folates, 12 weeks before the planned pregnancy, and also during the first and second trimesters [3][4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Knowledge of Young Women About Nutrients Influencing Development of Fetal Nervous System

Barnabe¹,

Korzonek-Szlacheta

Łabuz-Roszak³

2021

Wiad Lek

View full text Add to dashboard Cite

The aim: To analyze the nutritional knowledge of women in the reproductive age about nutrients influencing the fetal nervous system’s development. Materials and methods: The study was conducted with a proprietary anonymous questionnaire using the CAWI (Computer Assisted Web Interviews) method among 263 women aged 18-51 years. Results: In 35.4% of the surveyed women, the level of knowledge was insufficient, in 31.9% – sufficient, in 27% – good, and only in 5.7% – very good. The knowledge of the respondents was influenced by education (p < 0.001) and body mass index (BMI, p < 0.001). Women of reproductive age with higher education and/or lower BMI had a better understanding of nutrients influencing the fetal nervous system’s development. Age, place of residence, family status, and professional status did not affect their knowledge. Conclusions: The study showed that it is necessary to conduct nutritional education among women of reproductive age. Increasing the respondents’ awareness of the importance of nutrients determining the fetus’s proper development, both during the reproductive period and during pregnancy, is extremely important.

show abstract

Coexistence of the 677C>T and 1298A>C MTHFR polymorphisms and its significance in the population of Polish women

Cited by 6 publications

References 0 publications

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population

The importance of folic acid for the health of the human body

Knowledge of Young Women About Nutrients Influencing Development of Fetal Nervous System

Contact Info

Product

Resources

About