• PMID: 19815951
• Gene Name: MDR1
• Condition: Male infertility
• Association: Assessment of MDR1 genotypes among the infertile men showed that 17.9% of subjects were carriers of the CC genotype, 58.0% were CT and 24.1% were TT. Among fertile men, 30.4% of subjects were characterised by the CC genotype, 49.7% were CT and 19.9% were
• Mutation: MDR1 gene 3435C>T polymorphism
• Population size: 353
• Population details: 353 (162 infertile males, 191 healthy males with proven fertility)
• Sex: Male
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Male infertility

Association of the MDR1 (ABCB1) gene 3435C>T polymorphism with male infertility

Dro?dzik M, Stefankiewicz J, Kurzawa R, Górnik W, Baczkowski T, Kurzawski M.

Infertility is a common problem affecting one in six couples, and in 30% of infertile couples, the male factor is a major cause due to defective sperm quality. P-glycoprotein (P-gp), a product of the MDR1 (ABCB1) gene, may be a link between genetic and environmental factors contributing to the development of male infertility because pesticides (P-gp substrates) are well established factors of male infertility. The aim of the present study was to examine the effect of the MDR1 gene 3435C>T polymorphism on male infertility. In total, 162 male patients undergoing semen analysis due to initial infertility workup were included in the study. The control group consisted of 191 healthy males with proven fertility. MDR1 3435C>T genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Assessment of MDR1 genotypes among the infertile men showed that 17.9% of subjects were carriers of the CC genotype, 58.0% were CT and 24.1% were TT. Among fertile men, 30.4% of subjects were characterised by the CC genotype, 49.7% were CT and 19.9% were TT. In addition, the frequency of carriers of at least one T allele (i.e., CT and TT genotypes) among infertile and fertile subjects was 82.1% and 69.6%, respectively. The risk of infertility was significantly elevated by two-fold in individuals carrying at least one T allele (CT and TT genotypes: p = 0.009, OR = 2.00, 95% CI: 1.20-3.32). Furthermore, this elevated risk was still found when considering each of the CT and TT genotypes alone (TT genotype: p = 0.027, OR = 2.05, 95% CI: 1.09-3.86; CT genotype: p = 0.013, OR = 1.98, 95% CI: 1.16-3.36). This preliminary report suggests that P-gp may play some role in male infertility, mediating detrimental effects of environmental factors. FAU - Droździk, Marek AU - Droździk M AD - Department of Pharmacology, Pomeranian Medical University, Powstańcow Wlkp. 72, PL 70-111 Szczecin, Poland. drozdzik@sci.pam.szczecin.pl FAU - Stefankiewicz, Joanna AU - Stefankiewicz J FAU - Kurzawa, Rafał AU - Kurzawa R FAU - Górnik, Wanda AU - Górnik W FAU - Baczkowski, Tomasz AU - Baczkowski T