Projects
13: Identification of genetic predispositions to oligo-astheno-teratospermia.
Genetic predisposition to oligo-astheno-teratospermia.
Oligo-astheno-teratospermia (OTA) represents a major cause of male infertility. Here, a reverse genetic approach will be used to investigate the theory that endocrine disruptors have caused a deteriorating trend in male reproductive fitness. This should bring us closer to the origin of OTA.
Schorderet Daniel, Institut de Recherche en Opthalmologie, Sion
e-mail: daniel.schorderet@iro.vsnet.ch / daniel.schorderet@fbm.unil.ch
Background
Oligo-astheno-teratospermia (OTA), a condition characterized by sperm of low concentration, reduced mobility and increased abnormal morphology, represents a major cause of male infertility. In our programme of in vitro fertilization, we have investigated and treated more than 1,200 male patients with this disorder over the last 10 years. Although specific mutations have been reported and have been observed, the origin of OTA remains largely unknown. Recently, it has been suggested that endocrine disruptors have caused a deteriorating trend in male reproductive fitness.
Aim
We postulate that, if the endocrine disruptor theory is true, individual predisposing factors that are genetically inherited must exist and that such predisposing traits would be observed more frequently in infertile males.
This project intends to use a reverse genetic approach in order to identify such traits by investigating the genetic background of specific genes in a cohort of more than 1,200 OTA patients in comparison to 1,200 control individuals of the same ethnic origin.
In this approach, we will not focus on single endocrine disruptors but use a global approach that will identify predisposing genes. Subsequently, if this project is successful, these genes will be studied in order to see whether their expression is modulated by external factors.
Significance
Although it is currently accepted that genetics plays an important part in several diseases, it is still not fully accepted that genetically inherited predispositions are key parameters in all forms of diseases. Identification of common haplotypes in Swiss OTA patients might change the way sterility is perceived.