Literature DB >> 30105117

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.

Shilpa Bisht1, Bhavna Chawla2, Rima Dada1.   

Abstract

Sperm DNA is considered as the most vulnerable to oxidative stress-induced damage that also impairs global sperm DNA methylation leading to sperm-associated pathologies. C677T and A1298C polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene affect MTHFR enzyme activity. This study was planned as a case-control study to determine the MTHFR gene polymorphisms in the fathers of children affected with sporadic nonfamilial heritable retinoblastoma in an Indian population. MTHFR polymorphisms for single nucleotide polymorphisms 677 and 1298 were also determined in sporadic nonfamilial heritable retinoblastoma patients to estimate the risk for retinoblastoma development and to evaluate the role of MTHFR in retinoblastoma pathogenesis.

Entities:  

Keywords:  methylation; oxidative stress; polymorphism; retinoblastoma

Year:  2018        PMID： 30105117      PMCID： PMC6087474          DOI： 10.1055/s-0038-1667037

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  51 in total

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Journal:  Eur J Clin Nutr       Date:  2007-03-21       Impact factor: 4.016

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5.  Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene.

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Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2000-08       Impact factor: 4.254

6.  Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage.

Authors:  B C Blount; M M Mack; C M Wehr; J T MacGregor; R A Hiatt; G Wang; S N Wickramasinghe; R B Everson; B N Ames
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7.  A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations.

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Journal:  J Nutr       Date:  1999-09       Impact factor: 4.798

8.  A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.

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Journal:  Mol Genet Metab       Date:  1998-07       Impact factor: 4.797

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  3 in total

1.  8-Hydroxy-2'-Deoxyguanosine in Sperm DNA and Increased Risk of Nonfamilial Sporadic Heritable Retinoblastoma in the Child.

Authors:  Shilpa Bisht; Bhavna Chawla; Rima Dada
Journal:  J Pediatr Genet       Date:  2020-01-13

2.  Polymorphism in MTHFR (at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children.

Authors:  Won Sriwijitalai; Viroj Wiwanitkit
Journal:  J Pediatr Genet       Date:  2019-10-16

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

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Journal:  J Assist Reprod Genet       Date:  2021-04-29       Impact factor: 3.412
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