• PMID: 21127310
• Gene Name: PON2
• Condition: Decreased sperm concentration
• Association: Associated
• Mutation: PON2 311C
• Population size: 290
• Population details: 290 (120 oligospermic and 170 normozoospermic men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Decreased sperm concentration

Association of paraoxonase gene polymorphisms with sperm parameters

Lazaros LA, Xita NV, Hatzi EG, Kaponis AI, Stefos TJ, Plachouras NI, Makrydimas GV, Sofikitis NV, Zikopoulos KA, Georgiou IA.

Paraoxonase (PON) is a high-density lipoprotein-associated enzyme that prevents low-density lipoprotein oxidation. PON proteins, localized in the seminiferous tubules and in spermatozoa, have been implicated in the pathogenesis of male infertility. In the present study, we sought to explore the contribution of the PON gene variants to sperm parameters. One hundred twenty oligospermic and 170 normozoospermic men were examined during infertility investigation. DNA was extracted from spermatozoa, and the PON1(L/M) 55, PON1(Q/R) 192, and PON2(S/C) 311 polymorphisms were genotyped by polymerase chain reaction and digestion with restriction enzymes. The analysis revealed that oligospermic men presented PON1 55L/L, PON1 192Q/Q, and PON2 311S/S genotypes less frequently than normozoospermic men (P < .01, P < .01, and P < .001, respectively), whereas the PON1 55M, PON1 192R, and PON2 311C alleles were significantly increased in oligospermic men (P < .004, P < .008, and P < .008, respectively). The presence of PON1 55L allele was associated with higher sperm motility in oligospermic men (P < .001), in normozoospermic men (P < .01), and in the total study population (P < .01), and the PON1 192Q allele was associated with higher sperm motility in oligospermic men (P < .01), in normozoospermic men (P < .04) and in the total study population (P < .03). On the other hand, the PON2 311S was associated with higher sperm concentration in oligospermic men (P < .03), in normozoospermic men (P < .008), and in the total study population (P < .001). In our series, the PON1 55M and PON1 192R alleles were associated with decreased sperm motility whereas the PON2 311C allele was associated with decreased concentration, supporting the significance of PON genes in semen quality. FAU - Lazaros, Leandros A AU - Lazaros LA AD - Laboratory of Medical Genetics and Human Reproduction, Department of Obstetrics and Gynecology, Medical School, University of Ioannina, 45110 Ioannina, Greece. FAU - Xita, Nectaria V AU - Xita NV FAU - Hatzi, Elissavet G AU - Hatzi EG FAU - Kaponis, Apostolos I AU - Kaponis AI FAU - Stefos, Theodoros J AU - Stefos TJ FAU - Plachouras, Nicolaos I AU - Plachouras NI FAU - Makrydimas, Georgios V AU - Makrydimas GV FAU - Sofikitis, Nicolaos V AU - Sofikitis NV FAU - Zikopoulos, Konstantinos A AU - Zikopoulos KA