• PMID: 26125837
• Gene Name: MDR1
• Condition: Male factor infertility
• Association: This study showed that MDR1 might have a role in male infertility. Fur-ther research in large cohorts with different populations is required to clarify the role of MDR in male fertility.
• Mutation: MDR1 C3435T, C1236T
• Population size: 294
• Population details: 294 (192 infertile, 102 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male factor infertility

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

Aydos SE, Karada? A, Özkan T, Alt?nok B, Bunsuz M, Heidargholizadeh S, Aydos K, Sunguro?lu A.

Infertility affects 1 in 6 couples and approximately 1 in 25 men. Male factor infertility is a major cause of spermatogenic anomalies, the causes of which are largely unknown. Impaired repro-ductive functions in men might result from physiological, genetic, and/or environmental factors such as xenobiotics. The multi-drug re-sistance1 (MDR1) gene encodes a P-glycoprotein which has a role in the active transport of various substrates providing protection of somatic cells from potentially toxic substances, including xenobi-otics. MDR1 is highly expressed at the luminal surface of capillary endothelial cells, and is expressed in Leydig cells, testicular mac-rophages, and Sertoli cells. We performed genotype and haplotype analyses of MDR1 in 192 infertile and 102 fertile Turkish men for the genetic markers C1236T and C3435T, using polymerase chain reaction-restriction fragment length polymorphism analysis. In the overall population, correlations were analyzed in all genotype mod-els. We found that the C3435T polymorphism TT vs CT genotypes showed statistically significant differences in their association with infertility (P = 0.045), and that the CT genotype was associated with high sperm DNA damage (P = 0.02), suggesting that the CT genotype might be a susceptibility factor for infertility. Additionally, the T-T haplotype was significantly more frequent in the control group (13.2 vs 6.5%; odds ratio = 0.459, 95%CI = 0.259-0.814, P = 0.006). This study showed that MDR1 might have a role in male infertility. Fur-ther research in large cohorts with different populations is required to clarify the role of MDR in male fertility. FAU - Aydos, S E AU - Aydos SE AD - Department of Medical Biology, School of Medicine, Ankara University, Ankara, Turkey saydos@gmail.com. FAU - Karadağ, A AU - Karadağ A AD - Department of Medical Biology, School of Medicine, Ankara University, Ankara, Turkey. FAU - Özkan, T AU - Özkan T AD - Department of Medical Biology, School of Medicine, Ankara University, Ankara, Turkey. FAU - Altınok, B AU - Altınok B AD - Vocational School of Health, Medical Laboratory Techniques, Ankara University, Ankara, Turkey. FAU - Bunsuz, M AU - Bunsuz M AD - Department of Medical Biology, School of Medicine, Ankara University, Ankara, Turkey. FAU - Heidargholizadeh, S AU - Heidargholizadeh S AD - Department of Medical Biology, School of Medicine, Ankara University, Ankara, Turkey. FAU - Aydos, K AU - Aydos K AD - Reproductive Health Research Center, School of Medicine, Ankara University, Ankara, Turkey.