J Pediatr Genet 2018; 07(03): 103-113
DOI: 10.1055/s-0038-1667037
Original Article
Georg Thieme Verlag KG Stuttgart · New York

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 Bisht
1  Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
,
Bhavna Chawla
2  Ocular Oncology and Pediatric Ophthalmology Service, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
,
Rima Dada
1  Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
› Author Affiliations
Funding Financial assistance by the Council of Scientific & Industrial Research (Human Resource Development Group), New Delhi, India, in the form of a Senior Research Fellowship to Ms. Shilpa Bisht is thankfully acknowledged.
Further Information

Publication History

13 March 2018

05 June 2018

Publication Date:
11 July 2018 (eFirst)

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.