• PMID: 15044606
• Gene Name: AR
• Condition: Idiopathic male infertility
• Association: In particular, two CAG/GGC haplotypes seem to increase susceptibility to infertility (CAG = 21/GGC = 18 and CAG >/=21/GGC >/=18, relative risk 2.47 and 1.6), while one haplotype (CAG >/=23/GGC
• Mutation: CAG and GGC repeat lengths polmorphism
• Population size: 278
• Population details: 278 (163 men with idiopathic infertility, 115 fertile normozoospermic men)
• Sex: Male
• Infertility type: Male infertiltiy
• Other associated phenotypes: Idiopathic male infertility

Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility

Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C.

The androgen receptor (AR) has two polymorphic sites in exon 1, characterized by different numbers of CAG and GGC repeats resulting in variable lengths of polyglutamine and polyglycine stretches. Longer CAG repeats result in a reduced AR transcriptional activity, whereas the role of the GGC triplets is less clear. A relationship between decreased spermatogenesis and moderate expansion in the CAG tract has been found in some studies, but not in others. Furthermore, the joint distribution of CAG and GGC repeats in male infertility has never been reported before. We analysed CAG and GGC repeat lengths in a group of 163 men with idiopathic infertility compared with 115 fertile normozoospermic men. No difference was found between patients and controls in the mean and median values, and in distribution of CAG and GGC, when considered separately. However, the analysis of the joint distribution of CAG and GGC showed that the distribution of particular haplotypes is significantly different between patients and controls. In particular, two CAG/GGC haplotypes seem to increase susceptibility to infertility (CAG = 21/GGC = 18 and CAG >/=21/GGC >/=18, relative risk 2.47 and 1.6), while one haplotype (CAG >/=23/GGC