Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

Bisht, Shilpa; Chawla, Bhavna; Dada, Rima

doi:10.1055/s-0038-1667037

Cited by 7 publications

(2 citation statements)

References 50 publications

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“…Therefore, they have found a strong association of the MTHFR 677C>T and 1298A>C polymorphisms with retinoblastoma pathogenesis in an Indian population. They have suggested a possible and important role of a one-carbon metabolism pathway, methylation regulation, and an increased risk of retinoblastoma initiation [25]. Inconsistent with our results, the previous study in the Iranian population demonstrated that MTHFR 677C>T is associated with retinoblastoma.…”

Section: Resultssupporting

confidence: 87%

Association of MTHFR 677C>T, 1298A>C and MTR 2756A>G Polymorphisms with Risk of Retinoblastoma

Gohari¹,

Dastgheib²,

Jafari-Nedooshan³

et al. 2019

Klin Onkol

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Background: The MTHFR 677C>T, 1298A>C and MTR 2756A>G polymorphisms have been investigated in several different cancer types. However, the role of these polymorphisms in the development of retinoblastoma remains unclear. Here, we have evaluated the association of the MTHFR 677C>T, 1298A>C and MTR 2756A>G polymorphisms with the risk of retinoblastoma in Iranian children. Methods: The MTHFR 677C>T, 1298A>C and MTR 2756A>G polymorphisms in 66 patients with retinoblastoma and 99 age-and gender-matched healthy controls were detected on the ABI PRISMs 7500 Real-Time PCR System. The association between these polymorphisms and the risk of retinoblastoma was analysed by an odds ratio with a 95% confidence interval. Results: Our results showed a significant association between the MTR 2756A>G polymorphism and the risk of retinoblastoma. In the MTR 2756A>G polymorphism, the AG (39.4%) and GG (9.1%) genotype frequencies in the cases were found to be higher in comparison with the controls, show ing a significant difference (p < 0.05). However, no significant difference was observed in the allelic or genotypic frequencies for both the MTHFR 677C>T and 1298A>C polymorphisms in the retinoblastoma patients of the controls (p > 0.05). Conclusions: Our results suggested that the MTR 2756A>G polymorphism might be associated with an increased risk of retinoblastoma in Iranian children. However, the results show that the MTHFR 677C>T and 1298A>C polymorphisms are not significantly associated with an increased risk of retinoblastoma.

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Section: Resultssupporting

confidence: 87%

Association of MTHFR 677C>T, 1298A>C and MTR 2756A>G Polymorphisms with Risk of Retinoblastoma

Gohari¹,

Dastgheib²,

Jafari-Nedooshan³

et al. 2019

Klin Onkol

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“…It is a mandatory process in transmission of life: it is a major regulator in gametogenesis, embryo development, and growth via, but only, its role in epigenesis and imprinting mechanisms [8]. Since excess Hcy and the presence of MTHFR SNPs increase pathology risks in general [9][10][11][12], the risk of infertility at all stages pre-and postconception [13][14][15][16][17][18], the frequency of miscarriage [6,19,20], and compromised infant health [21][22][23], we have determined retrospectively the prevalence of the two main MTHFR SNPs in our population of 2970 male and female patients consulting for infertility; serum homocysteine levels were assessed in parallel.…”

Section: Introductionmentioning

confidence: 99%

MTHFR (methylenetetrahydrofolate reductase: EC 1.5.1.20) SNPs (single-nucleotide polymorphisms) and homocysteine in patients referred for investigation of fertility

Ménézo¹,

Patrizio²,

Álvarez

et al. 2021

J Assist Reprod Genet

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Purpose MTHFR, one of the major enzymes in the folate cycle, is known to acquire single-nucleotide polymorphisms that significantly reduce its activity, resulting in an increase in circulating homocysteine. Methylation processes are of crucial importance in gametogenesis, involved in the regulation of imprinting and epigenetic tags on DNA and histones. We have retrospectively assessed the prevalence of MTHFR SNPs in a population consulting for infertility according to gender and studied the impact of the mutations on circulating homocysteine levels. Methods More than 2900 patients having suffered at least two miscarriages (2 to 9) or two failed IVF/ICSI (2 to 10) attempts were included for analysis of MTHFR SNPs C677T and A1298C. Serum homocysteine levels were measured simultaneously. Results We observed no difference in the prevalence of different genetic backgrounds between men and women; only 15% of the patients were found to be wild type. More than 40% of the patients are either homozygous for one SNP or compound heterozygous carriers. As expected, the C677T SNP shows the greatest adverse effect on homocysteine accumulation. The impact of MTHFR SNPs on circulating homocysteine is different in men than in women. Conclusions Determination of MTHFR SNPs in both men and women must be seriously advocated in the presence of long-standing infertility; male gametes, from MTHFR SNPs carriers, are not exempted from exerting a hazardous impact on fertility. Patients should be informed of the pleiotropic medical implications of these SNPs for their own health, as well as for the health of future children.

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Oxidative Stress and Its Association with Male Infertility

Agarwal

Sengupta

2020

Male Infertility

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Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

Cited by 7 publications

References 50 publications

Association of MTHFR 677C>T, 1298A>C and MTR 2756A>G Polymorphisms with Risk of Retinoblastoma

Association of MTHFR 677C>T, 1298A>C and MTR 2756A>G Polymorphisms with Risk of Retinoblastoma

MTHFR (methylenetetrahydrofolate reductase: EC 1.5.1.20) SNPs (single-nucleotide polymorphisms) and homocysteine in patients referred for investigation of fertility

Oxidative Stress and Its Association with Male Infertility

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