• PMID: 20389169
• Gene Name: RAF1
• Condition: Unilateral or bilateral cryptorchidism
• Association: A novel observation in our study was that the fibroblast growth factor receptor 1 gene (FGFR1) and its mediators SOS1 and RAF1 were expressed less in undescended testes.
• Population size: 22
• Population details: 22 (16 cryptorchid, 6 descended testes)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: FGFR1, SOS1, RAF1
• Other associated phenotypes: Unilateral or bilateral cryptorchidism

Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism

Hadziselimovic NO, de Geyter Ch, Demougin P, Oakeley EJ, Hadziselimovic F.

BACKGROUND: In recent years, several genes were found to be involved in the process of epididymo-testicular descent, the most frequently cited ones include INSL3, HOXA10, GNRHR, and KAL1. In this study, we analyzed the differences in gene expression profiles between cryptorchid and descended testes. In particular, we analyzed expression of all recently published genes known to be associated with undescended testis. PATIENTS AND METHODS: Twenty-two testicular biopsies from 18 boys were analyzed. We analyzed gene expression in 16 cryptorchid and 6 descended testes using Affymetrix Human Genome U133 Plus 2.0 GeneChips, and validated the results with qPCR. RESULTS: 3,688 transcripts were differentially expressed with an adjusted p value of <0.05 and a change of at least 1.5-fold. The list contained 1,866 downregulated and 1,822 upregulated transcripts in the cryptorchid testes. A novel observation in our study was that the fibroblast growth factor receptor 1 gene (FGFR1) and its mediators SOS1 and RAF1 were expressed less in undescended testes. CONCLUSION: Based on our results, it is possible that a subtle dysfunction (expression) of the FGFR1, SOS1 and RAF1 genes is involved in the development of the most common male reproductive tract disorder - unilateral or bilateral cryptorchidism. CI - Copyright 2010 S. Karger AG, Basel. FAU - Hadziselimovic, N O AU - Hadziselimovic NO AD - Kindertagesklinik Liestal, Liestal, Switzerland. FAU - de Geyter, Ch AU - de Geyter Ch FAU - Demougin, P AU - Demougin P FAU - Oakeley, E J AU - Oakeley EJ