Is a Change in the USP26 Gene Playing as a Risk Factor for Developing Inguinal Hernia?

Introduction: The Human X-chromosome is enriched in testis specific-genes that may be essential for male fertility. One of them is the ubiquitin-specific protease 26 (USP26), located at Xq26.2. Five frequent changes have been identified in USP26 gene but their role in infertility is still debated. Of them, 1090C>T M579I was suggested in our previous study as a possible new genetic risk factor for developing inguinal hernia which may impair man fertility.

Aim: To assess the frequency of 1090C>T M579I in a large group of men with hernioplasty/ herniorrhaphy (H/H).

Materials: A total of 792 men were studied. The ethnic origin and family history of reproduction was available in all cases. Clinical records of 412 infertile men , 95 sperm donors , 227 fertile men with at least 2 children and 58 children which underwent H/H were summarized. The gene region containing the change was amplified and the change was identified by a specific restriction enzyme.

Results: The change 1090C>T was detected in 3.1% and 5% of men belonging to fertile and infertile groups respectively. The mutation prevalence among infertile men with hernioplasty was higher than that reported in the infertile population with no records of hernioplasty (9.7% and 3.4% respectively, OR=3). In the group of children who underwent H/H the mutation prevalence was 1.7%.

Childhood H/H prevalence among infertile men with 1090C>T mutation (54.5%) was much higher than that reported in the general and infertile population (5% and 6.65% respectively).

Conclusions: Our results suggests that the change 1090C>T may be a new genetic risk factor for developing inguinal hernia which may impair man fertility.