Grantee Research Project Results
2003 Progress Report: Molecular Epidemiology of Hypospadias
EPA Grant Number: R828599Title: Molecular Epidemiology of Hypospadias
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, 2002 through October 1, 2003
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 35 months of
the research project, a total of 145 case families and 145 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.
Buccal swab DNA collected from case and control infants is being assayed for
any polymorphisms in the expressed portion of the steroid 5-alpha reductase
type 2 (SRD5A2) gene, the 17-hydroxysteroid dehydrogenase type 3 (17
HSD3)
gene, and trinucleotide repeats on the androgen receptor (AR) gene. A common
single nucleotide polymorphism (SNP) in exon 1 of the SRD5A2 gene (V89L) has
been identified, although differences between case and control groups are not
statistically significant. Results currently are confounded by racial admixture,
with African Americans having a much higher frequency of the L allele than
Caucasians. Further evaluation of infants and parents in the study should reveal
if this polymorphism is associated with hypospadias.
Future Activities:
Future activities for Year 3 of the project
are to enroll approximately 160 additional families into the study, giving
approximately
450 families out of a total of 800. Gene analyses for the SRD5A2, 17HSD3,
and AR genes should be complete on the entire cohort. There should be sufficient
data for preliminary evaluation of genetic and environmental risk factors for
hypospadias.
Journal Articles on this Report : 1 Displayed | Download in RIS Format
| Other project views: | All 39 publications | 7 publications in selected types | All 7 journal articles |
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| Type | Citation | ||
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Manson JM, Carr MC. Molecular epidemiology of hypospadias: review of genetic and environmental risk factors. Birth Defects Research Part A:Clinical and Molecular Teratology 2003;67(10):825-836. |
R828599 (2002) R828599 (2003) R828599 (2004) R828599 (2005) R828599 (2006) R828599 (Final) |
Exit Exit |
Supplemental Keywords:
infant, epidemiology, genetic, urogenital, DNA, environmental risk factors, polymorphism, hypospadias., 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 disordersProgress and Final Reports:
Original AbstractThe 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.