A Single Nucleotide Polymorphism of <scp>DNA</scp> methyltransferase 3B gene is a risk factor for recurrent spontaneous abortion

Barišić, Anita; Pereza, Nina; Hodžić, Alenka; Ostojić, Saša; Peterlin, Borut

doi:10.1111/aji.12765

Cited by 10 publications

(7 citation statements)

References 30 publications

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“…The results of our study were similar to the previous studies carried out on Iranian and European populations with respect to the genotype and allele frequencies of DNMT3B rs2424913, DNMT3B rs1569686, DNMT3a rs7590760, DNMT1 rs2228611, and DNMT1 rs8101626 [18,20,30,31]. Likewise, the genotype and allele frequencies of DNMT3L rs2276248 in our study were consistent with those determined among healthy French women [32].…”

Section: Discussionsupporting

confidence: 91%

“…НАУЧНАЯ СТАТЬЯ know, DNMT3B rs2424913, DNMT3A rs7590760, DNMT1 rs8101626, DNMT3L rs2276248, and DNMT3L rs2070565 polymorphisms have been analyzed only among women with various cancers and in male infertility [17-----19]. DNMT3B rs1569686 and DNMT1 rs2228611 have been analyzed in cancerous disease but only one study has genotyped them in Slovenian women with RPL [20]. SYCP3 T657C has been analyzed among Iranian and Japanese women with idiopathic RPL [15,16].…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of Some Gene Polymorphisms Related to Early Pregnancy Loss among Russian Women

Ahmed

Muradian

Азова

2019

Vestn. Ross. univ. družby nar., Ser. Med.

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Background. A variety of biological processes regulated by differential gene expression are required to maintain a normal gestation and accordingly, the mutations and polymorphisms in such genes may cause miscellaneous biological disorders that eventually result in early pregnancy loss. Many studies reported that aberrant fetal DNA methylation as well as embryonic chromosome abnormalities may lead to impairment of fetal early growth and development. Therefore, we have aimed to genotype several gene polymorphisms might be involved in the above-mentioned biological disorders to screen their prevalence in Russian population. Materials and methods. 81 Russian women without previous history of normal pregnancy or early abortion were recruited into this population study to determine the genotype and allele frequencies through genotyping using RFLP-PCR method for DNMT3B rs2424913, DNMT3B rs1569686, DNMT3A rs7590760, DNMT1 rs2228611, DNMT1 rs8101626, DNMT3L rs2276248, and DNMT3L rs2070565, allele-specific PCR for SYCP3 T657C, and real-time PCR for MTHFR rs1801133, MTHFR rs1801131, MTR rs1805087, and MTRR rs1801394. Results. Minor homozygous genotypes and minor alleles of the polymorphisms DNMT3B rs2424913 (TT: 11.1%, T: 37.05%), DNMT1 rs2228611 (GG: 18.5%, G: 40.75%), and DNMT1 rs8101626 (GG: 16.0%, G: 40.1%) were quite prevalent in Russian women and as frequent as those of the well-studied polymorphisms: MTRR rs1801394 (GG: 27.2%, G: 50.65%), MTHFR rs1801131 (CC: 17.3%, C: 40.15%), and MTHFR rs1801133 (TT: 11.1%, T: 29.0%).The heterozygous genotype of SYCP3 T657C (CT: 12.3%, T: 6.15%) was also quite frequent. Conclusion. Based on our study and literature data, we suggest that DNMT3B rs2424913, DNMT1 rs2228611, DNMT1 rs8101626, and SYCP3 T657C polymorphisms along with the common folate cycle gene polymorphisms can be potential genetic predictors for early pregnancy loss in Russian women.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Prevalence of Some Gene Polymorphisms Related to Early Pregnancy Loss among Russian Women

Ahmed

Muradian

Азова

2019

Vestn. Ross. univ. družby nar., Ser. Med.

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“…DNA methyltransferases and TET are two key regulative gene families involved in DNA methylation and demethylation pathways, respectively, during both embryogenesis and spermatogenesis (Nettersheim et al, 2013;Barišić et al, 2017;Li et al, 2019). Despite their critical role in sperm methylation, the DNMT and TET genes have been poorly investigated in the context of male infertility (Uysal et al, 2016(Uysal et al, , 2019Tang et al, 2017Tang et al, , 2018.…”

Section: Dna Methylating and Demethylating Enzymesmentioning

confidence: 99%

Epigenetics of Male Infertility: The Role of DNA Methylation

Rotondo

Lanzillotti

Mazziotta

et al. 2021

Front. Cell Dev. Biol.

105

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In recent years, a number of studies focused on the role of epigenetics, including DNA methylation, in spermatogenesis and male infertility. We aimed to provide an overview of the knowledge concerning the gene and genome methylation and its regulation during spermatogenesis, specifically in the context of male infertility etiopathogenesis. Overall, the findings support the hypothesis that sperm DNA methylation is associated with sperm alterations and infertility. Several genes have been found to be differentially methylated in relation to impaired spermatogenesis and/or reproductive dysfunction. Particularly, DNA methylation defects of MEST and H19 within imprinted genes and MTHFR within non-imprinted genes have been repeatedly linked with male infertility. A deep knowledge of sperm DNA methylation status in association with reduced reproductive potential could improve the development of novel diagnostic tools for this disease. Further studies are needed to better elucidate the mechanisms affecting methylation in sperm and their impact on male infertility.

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“…A number of studies have demonstrated an association between genetic variants and the risk of RSA (27)(28)(29)(30). VEGF is among the established regulators of angiogenesis during pregnancy and has been associated with RSA (31,32).…”

Section: Resultsmentioning

confidence: 99%

The ‑2549 insertion/deletion polymorphism in the promoter region of VEGF is associated with the risk of recurrent spontaneous abortion

et al. 2018

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Abstract. Recurrent spontaneous abortion (RSA) is a common health problem affecting women of reproductive age. Altered expression of vascular endothelial growth factor (VEGF) has been associated with spontaneous abortion. The present case-control study aimed to evaluate the impact of the 18-bp insertion/deletion (ins/del) polymorphism (rs35569394) in the promoter region of the VEGF gene on idiopathic RSA. Genomic DNA from 93 patients with RSA and 93 healthy fertile women of southeastern Iran was isolated using the salting-out method. Genotyping of the rs35569394 variant was performed by a polymerase chain reaction (PCR) method. The findings indicated that the VEGF 18-bp ins/del variant significantly increased the risk of RSA under codominant (ins/ins vs. del/del; OR=2.85, 95% CI=1.31-6.22, P=0.019), dominant (del/ins+ins/ins vs. del/del; OR=2.19, 95% CI=1.20-4.01, P=0.015) and allelic (ins vs. del; OR=1.90, 95% CI=1.25-2.88, P=0.003) inheritance models. In summary, the findings propose a significant association between the VEGF 18-bp ins/del polymorphism and risk of RSA in a sample of the southeast Iranian population. Further studies on larger sample sizes and different ethnicities are required to validate the present findings.

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A Single Nucleotide Polymorphism of DNA methyltransferase 3B gene is a risk factor for recurrent spontaneous abortion

Abstract: DNMT3B rs1569686 gene polymorphism in women might be a genetic marker for the susceptibility to RSA.

Cited by 10 publications

References 30 publications

Prevalence of Some Gene Polymorphisms Related to Early Pregnancy Loss among Russian Women

Prevalence of Some Gene Polymorphisms Related to Early Pregnancy Loss among Russian Women

Epigenetics of Male Infertility: The Role of DNA Methylation

The ‑2549 insertion/deletion polymorphism in the promoter region of VEGF is associated with the risk of recurrent spontaneous abortion

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