• PMID: 15533353
• Gene Name: CFTR
• Condition: Semen viscosity
• Association: Semen hyperviscosity could be considered a "minimal clinical expression" of cystic fibrosis; CFTR gene sequence variations may constitute the genetic basis for this disease.
• Mutation: (TG)mTn polymorphic tracts
• Population size: 118
• Population details: 118 (46 infertile couples with sine causa high semen viscosity, 72 normospermic men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Semen viscosity

High frequency of (TG)mTn variant tracts in the cystic fibrosis transmembrane conductance regulator gene in men with high semen viscosity

Rossi T, Grandoni F, Mazzilli F, Quattrucci S, Antonelli M, Strom R, Lucarelli M.

OBJECTIVE: To evaluate a possible correlation between abnormal semen consistency and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and variant tracts. DESIGN: Study of CFTR mutations and variant tracts in men with high semen viscosity as compared with normospermic men. SETTING: University-based centers for andrology, clinical biochemistry, and cystic fibrosis. PATIENT(S): Forty-six male partners from infertile couples with sine causa high semen viscosity compared with 72 normospermic men. INTERVENTION(S): Semen sample collection. MAIN OUTCOME MEASURE(S): We obtained the (TG)mTn polymorphic tracts and a panel of 31 mutations of CFTR, semen viscosity, and semen variables. RESULT(S): The frequencies of the (TG)12 and T5 variant alleles were statistically significantly higher in men with high semen viscosity (17.4% and 7.6%, respectively) than in the normospermic control group (6.9% and 1.4%, respectively). The frequency of the genotypes carrying (TG)12 or T5 was statistically significantly higher in men with high semen viscosity (39.1%) than in the normospermic control group (16.7%). Four men with high semen viscosity showed the variant (TG)12T5 haplotype; one of these men presented variant tracts on both alleles. None of the normospermic controls showed a (TG)12T5 haplotype. CONCLUSION(S): Semen hyperviscosity could be considered a "minimal clinical expression" of cystic fibrosis; CFTR gene sequence variations may constitute the genetic basis for this disease. FAU - Rossi, Tiziana AU - Rossi T AD - Department of Medical Physiopathology, University of Rome La Sapienza, Rome, Italy. FAU - Grandoni, Francesco AU - Grandoni F FAU - Mazzilli, Fernando AU - Mazzilli F FAU - Quattrucci, Serena AU - Quattrucci S FAU - Antonelli, Mariano AU - Antonelli M FAU - Strom, Roberto AU - Strom R