Association of the MTHFR 677C&gt;T and 1298A&gt;C polymorphisms and male infertility risk: a meta-analysis

Aliakbari, Fereshteh; Pouresmaeili, Farkhondeh; Eshghifar, Nahal; Zolghadr, Zahra; Azizi, Faezeh

doi:10.1186/s12958-020-00649-1

Cited by 16 publications

(11 citation statements)

References 51 publications

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“…This is the most seen and observed SNP in the MTHFR gene [ 16 ]. During polymorphism of this gene, there is C-to-T movement at nucleotide 677 in exon 4 points where cytosine (C) is mutated to a thymine (T) at the coding region MTHFR gene in humans, resulting in an alanine-valine mutation where alanine position is replaced with valine residues (Ala222Val) consequently, generating a decrease in enzyme activity [ 17 ].…”

Section: Reviewmentioning

confidence: 99%

MTHFR Gene-Polymorphism and Infertile Men in Indian Population: A Systematic Literature Review

More¹,

Gajbe²,

Olatunji³

et al. 2022

Cureus

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Single nucleotide polymorphisms (SNPs) in the genetic makeup of the methylenetetrahydrofolate reductase gene (MTHFR C677-T, A1298-C, and G1793-A) alongside environmental and lifestyle component has shown some links as a potential factor responsible for male infertility across the globe posing huge genetic vulnerability to the gender. However, SNPs in the MTHFR gene implicated in male infertility are not without their own controversial results even within the same population. The goal of this study was to provide comprehensive insights into the controversial nature of MTHFR gene polymorphism on male infertility across all Indian populations as well as other ethnicities. The electronic PubMed database was utilized to conduct and select eligible studies for this systematic review (update to December 2021). Only high-quality studies with a link between MTHFR polymorphisms and male infertility were included based on our exclusion and inclusion criteria. The connection between the MTHFR gene polymorphism and male infertility in Indian population studies was evaluated using odds ratios (ORs) with a 95% confidence interval (CI). A total of five studies presenting 1,237 cases and 1,044 controls were assessed for this study. The collective results revealed that MTHFR C667-T and A1298-C gene polymorphism were significantly linked with an increased chance of male infertility both in south India and north India, however, with some conflicting results. Interestingly, no study has been carried out to investigate the impact of G1793-A polymorphism on infertile males in the Indian population at the time of our report. Results generated from the few case-control evaluated on MTHFR gene polymorphism in the Indian population are found to conflict with some extrinsic factors (such as nutritional status-folate metabolism, lifestyle, varying recruitment procedures, and epigenetic elements) identified to have played some critical roles. Therefore, broader studies across all regions in India addressing the grave impact of MTHFR gene polymorphism on male infertility are of utmost importance.

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Section: Reviewmentioning

confidence: 99%

MTHFR Gene-Polymorphism and Infertile Men in Indian Population: A Systematic Literature Review

More¹,

Gajbe²,

Olatunji³

et al. 2022

Cureus

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“…SNPs are participated in causing many diseases and some SNPs do not play any role in causing diseases. Alike in SNP in MTHFR gene can be responsible for male factor infertility by causing mutation in folate related enzyme gene which take part in a crucial role in the synthesis of DNA and its methylation [9].…”

Section: Single Nucleotide Polymorphismmentioning

confidence: 99%

Correlation of MTHFR Gene Polymorphism with Male Infertility

Gajbe

Bhandekar

et al. 2021

JPRI

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Background: Folate is present in Vitamin B, which is not present in the body, and one has to consume it from outside. Its functions are to help in the production of RBCs, helps in the production of genes, DNA, RNA, and protein, helps in the metabolism of homocysteine, and is also the main component which is required for the process of methylation. For the metabolism of the folate group, the MTHFR gene is responsible. When there is a problem occurs in the MTHFR gene such as SNP, then it can create a problem with many allied metabolisms and other biological reactions or processes in the body of human body and deficiency of folate in the body may lead to affect various processes such as it can increase the homocysteine level in the body and can cause hyperhomocysteinemia, which has been linked with many diseases along with causing male infertility. Objectives: To identify nucleotide polymorphism in cases and control group. To correlate polymorphism status with male infertility. To correlate MTHFR polymorphism with abnormal semen parameters. To correlate BMI with male infertility. Methodology: For this study, we will use various collective methods to conduct the study which includes the recording of treatment history and the indications of infertile patients visiting WARDHA TEST TUBE CENTRE and counselling them. After that semen collection and analysis will be done along with blood collection, DNA extraction, DNA quantification with nanodrop and agarose gel, PCR, and RFLP. We have also made use of PubMed for getting related articles. Results and Conclusion: We have done many searches on PubMed and NCBI sites (http://www.ncbi.nlm.nih.gov/pubmed/) with keyword MTHFR gene, polymorphism in MTHFR gene, methylation, folate methylation, methylenetetrahydrofolate reductase, methylenetetrahydrofolate reductase, and primer for MTHFR gene and retrieved many articles related to primers for MTHFR gene and will design our primer for forward and reverse annealing with the help of Amplify software (Engels, 1993). With the help of our study, we will analyze the MTHFR genomic sequence along with analysis of RFLP, in which we will design an amplicon of 513bps in which we will find restriction site for Hinf I and will check that if polymorphism is there then it will cut the DNA amplicon into two and will confirm it with electrophoresis.

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“…The human MTHFR gene is located on the short arm of chromosome 1 and encodes one of the regulatory enzymes controlling folate metabolism (8,9). MTHFR catalyzes 5,10methylenetetrahydrofolate to turn into 5-methylenetetrahydrofolate (5-MTHF), which is necessary for homocysteine's (Hcy) conversion into methionine via the methionine synthesis pathway (10).…”

Section: Introductionmentioning

confidence: 99%

“…There are three commonly known polymorphisms of the MTHFR gene, namely MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), and MTHFR G1793A (rs2274976) (11). The MTHFR C677T polymorphism alters an alanine (Ala) to a valine (Val), which decreases the thermal stability of the enzyme (8). The enzyme activity in homozygous TT mutant individuals is around 30% of that in homozygous CC genotype individuals, whereas enzyme activity in heterozygous genotype (CT) individuals is approximately 65% of that in homozygous CC genotype individuals (12).…”

Section: Introductionmentioning

confidence: 99%

“…The enzyme activity in homozygous TT mutant individuals is around 30% of that in homozygous CC genotype individuals, whereas enzyme activity in heterozygous genotype (CT) individuals is approximately 65% of that in homozygous CC genotype individuals (12). The MTHFR polymorphism (C667T) was significantly associated with a higher risk of male infertility in the Chinese population, while the MTHFR polymorphism (A1298C) was not considered a risk factor for male infertility, according to numerous studies (8,13,14). Some studies have also examined the association between MTHFR polymorphisms, recurrent spontaneous abortions, and recurrent implantation failures (15)(16)(17).…”

Section: Introductionmentioning

confidence: 99%

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Association of paternal MTHFR polymorphisms (C677T) with clinical outcomes in ICSI treatment

Wan

Liu²,

Xu³

et al. 2022

Front. Endocrinol.

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PurposeThis study aims to investigate the association between paternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms (C677T) and embryonic development, pregnancy, and neonatal outcomes in intracytoplasmic sperm injection (ICSI) treatment.MethodsA total of 191 infertile men undergoing ICSI treatment at the Reproductive and Genetic Hospital, The First Affiliated Hospital of USTC, were recruited between January 2020 and June 2021. The MTHFR C677T polymorphism genotyping was evaluated in these male patients, and they were stratified into three groups according to genotyping results: Control (CC), heterozygote mutated (CT), and mutated homozygote (TT). In addition, we conducted a comparative analysis of embryonic development, pregnancy, and neonatal outcomes among these three groups.ResultsThe embryonic development (including normal fertilization rate (80.14% vs. 83.06% vs. 85.10%; p = 0.37), high-quality embryo rate (45.26% vs. 43.69% vs. 46.04%; p = 0.72), blastocyst formation rate (42.47% vs. 43.18% vs. 39.38%; p = 0.62), implantation rate (42.47% vs. 36.25% vs. 41.22%; p = 0.62), and clinical pregnancy rate (64.71% vs. 58.75% vs. 66.67%; p = 0.59) were not comparable among these three groups. Moreover, no significant difference was observed in terms of pregnancy outcomes (including miscarriage rate (24.24% vs. 12.77% vs. 22.5%; p = 0.35) and live birth rate (49.02% vs. 51.25% vs. 51.66%; p = 0.96)). Additionally, no marked difference was observed in terms of neonatal outcome (including, preterm delivery rate (24% vs. 14.63% vs. 9.67%; p = 0.35), birth height (p = 0.75), birth weight (p = 0.35), neonatal sex (p = 0.48), gestational age at delivery (p = 0.24), Apgar score (p = 0.34), and birth defects (0% vs. 2% vs. 9%; p = 0.23) among the study groups.ConclusionThe paternal MTHFR C677T polymorphism is not associated with embryo quality, pregnancy, or neonatal outcomes in ICSI treatment. Therefore, in our population, MTHFR polymorphisms do not provide helpful information in explaining ICSI failure.

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Association of the MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis

Cited by 16 publications

References 51 publications

MTHFR Gene-Polymorphism and Infertile Men in Indian Population: A Systematic Literature Review

MTHFR Gene-Polymorphism and Infertile Men in Indian Population: A Systematic Literature Review

Correlation of MTHFR Gene Polymorphism with Male Infertility

Association of paternal MTHFR polymorphisms (C677T) with clinical outcomes in ICSI treatment

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