• PMID: 10601093
• Gene Name: CFTR
• Condition: Congenital absence of the vas deferens
• Association: This study observed a 1.7-fold increase in the proportion of homozygotes for a specific CFTR haplotype (TG11-T7-G1540) in the OAT group
• PMID: 10601093
• Gene Name: CFTR
• Condition: Male infertility
• Association: Associated
• Population size: 106
• Population details: 106 (56 patients with severe oligoasthenoteratozoospermia (OAT), 50 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CFTR
• Other associated phenotypes: Male infertility

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality

Pallares-Ruiz N, Carles S, Des Georges M, Guittard C, Arnal F, Humeau C, Claustres M.

Based on the analysis of the most frequent mutations responsible for cystic fibrosis (CF), a higher than expected frequency of CF mutations was recently reported in men with infertility due to reduced sperm quality. To further document whether this condition is associated with severe or mild abnormalities of cystic fibrosis transmembrane conductance regulator (CFTR) functions, we carried out a complete scanning of CFTR sequences using a strategy that detects almost all 850 mutations and 150 polymorphisms reported to date in the CFTR gene. We have investigated a cohort of 56 patients with severe oligoasthenoteratozoospermia (OAT) and 50 controls from southern France for CFTR gene mutations and variations. The frequencies of CF-causing mutations and CFTR variations identified in this OAT sample did not differ significantly from the frequencies found in the normal population. However, we observed a 1.7-fold increase in the proportion of homozygotes for a specific CFTR haplotype (TG11-T7-G1540) in the OAT group (P = 0.025). Our results do not confirm a link between CF mutations and reduced sperm quality. Further studies are needed to substantiate the hypothesis that a combination of variants affecting expression and function of the CFTR protein is associated with male infertility. FAU - Pallares-Ruiz, N AU - Pallares-Ruiz N AD - Laboratoire de Génétique Moléculaire, Institut de Biologie, CHU, CNRS IGH UPR 1142, Hôpital Arnaud de Villeneuve, 34060 Montpellier Cedex, France. FAU - Carles, S AU - Carles S FAU - Des Georges, M AU - Des Georges M FAU - Guittard, C AU - Guittard C FAU - Arnal, F AU - Arnal F FAU - Humeau, C AU - Humeau C