Grantee Research Project Results

2001 Progress Report: Molecular Epidemiology of Hypospadias

EPA Grant Number: R828599
Title: Molecular Epidemiology of Hypospadias
Investigators: Manson, Jeanne M. , Artlett, Carol , Daskalakis, Constantine , Devoto, Marcella , Carr, Michael
Current Investigators: Manson, Jeanne M. , Carr, Michael
Institution: Thomas Jefferson University
Current Institution: The Children's Hospital of Philadelphia
EPA Project Officer: Aja, Hayley
Project Period: July 1, 2002 through October 1, 2007
Project Period Covered by this Report: July 1, 2000 through October 1, 2001
Project Amount: $2,962,288
RFA: Genetic Susceptibility and Variability of Human Malformations (1999) RFA Text | Recipients Lists
Research Category: Human Health

Objective:

The objective of this research project is to characterize the genetic and environmental risk factors for hypospadias in the general population.

Progress Summary:

In the first 10 months of this project, a total of 42 case and 45 control families have been enrolled. The case and control groups are well balanced in terms of race/ethnicity and demographics. To date, no environmental risk factors for hypospadias have been identified, although the number of subjects recruited is too small for meaningful evaluation. Assays have been developed for amplifying the entire expressed portion of the SRD5A2 (steroid 5-alpha reductase type 2) gene, and are under development for the 17bHSD3 (17b hydroxysteroid dehydrogenase type 3) gene. Gene assays on study samples are in progress.

Future Activities:

In the next year, there should be approximately 250 additional families enrolled in the study, giving approximately 350 families out of a total of 800. Gene analysis for the SRD5A2 and 17bHSD3 genes should be complete on at least 100 families. There should be sufficient data for preliminary evaluation of genetic and environmental risk factors for hypospadias.

Journal Articles:

No journal articles submitted with this report: View all 39 publications for this project

Supplemental Keywords:

infant, epidemiology, genetic, urogenital,, Health, RFA, Scientific Discipline, Susceptibility/Sensitive Population/Genetic Susceptibility, Health Risk Assessment, Biology, genetic susceptability, Environmental Chemistry, Children's Health, Biochemistry, epidemeology, Human Health Risk Assessment, male infants, infants, maternal exposure, pregnancy, molecular epidemeology, prenatal exposure, children, children's vulnerablity, endocrine disruptors, toxics, assessment of exposure, environmental toxicant, human susceptibility, developmental disorders

Progress and Final Reports:

Original Abstract

The perspectives, information and conclusions conveyed in research project abstracts, progress reports, final reports, journal abstracts and journal publications convey the viewpoints of the principal investigator and may not represent the views and policies of ORD and EPA. Conclusions drawn by the principal investigators have not been reviewed by the Agency.