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Genetics, Folic Acid, and Retinoblastoma

Research project examines prenatal exposure to folic acid and assesses the impact of genetic variations on development of retinoblastoma.


Maternal Genetic Mutation and Use of Folic Acid Supplements May Increase Risk for Childhood Eye Cancer

Women with a common genetic mutation who took folic acid supplements during pregnancy were nearly four times as likely as other women to give birth to a child with retinoblastoma.

Researchers from Columbia University’s Mailman School of Public Health, Columbia University Medical Center, and several collaborating institutions, including the Hospital Infantil de Mexico, the Instituto Mexicano de Salud Publica, the Instituto Mexicano de Seguro Social, and the Vitamin Metabolism Laboratory at the Jean Mayer USDA Human Nutrition Research Center on AgingatTufts University, published the finding online in the journal Cancer.

In the Mexico-based study, researchers followed 103 mothers of children with a sporadic form of retinoblastoma, in which only one eye is affected, along with a control group of 97 mothers of healthy children. The women provided blood samples, which were tested for mutations on two genes involved with the body’s metabolism of folate—polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR).  They were also interviewed regarding their use of folic acid supplements during pregnancy. Women with DHFR polymorphism who took folic acid supplements had a nearly threefold risk for having a child with retinoblastoma. There did not appear to be an increased risk in women with the polymorphism who did not take the supplements. The MTHFR polymorphism did not affect their risk.



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