Phosphatidylethanolamine N-methyltransferase and choline dehydrogenase gene polymorphisms are associated with human sperm concentration  

作　　者：Leandros Lazaros Nectaria Xita Elissavet Hatzi Apostolos Kaponis Georgios Makrydimas Atsushi Takenaka Nikolaos Sofikitis Theodoros Stefos Konstantinos Zikopoulos Ioannis Georgiou 

机构地区：[1]Genetics and IVF Unit, Department of Obstetrics and Gynecology, Medical School, University of Ioannina, Ioannina 45110, Greece [2]Department of Endocrinology, Medica School, University of Ioannina, Ioannina 45110, Greece [3]Department of Urology, Tottori University Faculty of Medicine, Totteri 683-8504, Japan [4]Department of Urology Medical School, University of Ioannina, Ioannina 45110, Greece

出　　处：《Asian Journal of Andrology》2012年第5期778-783,共6页亚洲男性学杂志（英文版）

摘　　要：Choline is a crucial factor in the regulation of sperm membrane structure and fluidity, and this nutrient plays an important role in the maturation and fertilizing capacity of spermatozoa. Transcripts of phosphatidylethanolamine N-methyltransferase （PEMT） and choline dehydrogenase （CHDH）, two basic enzymes of choline metabolism, have been observed in the human testis, demonstrating their gene expression in this tissue. In the present study, we explored the contribution of the PEMTand CHDHgene variants to sperm parameters. Two hundred oligospermic and 250 normozoospermic men were recruited. DNA was extracted from the spermatozoa, and the PEMT -774G〉C and CHDH ＋432G〉T polymorphisms were genotyped. The genotype distribution of the PEMT-774G〉C polymorphism did not differ between oligospermic and normozoospermic men. In contrast, in the case of the CHDH ＋432G〉T polymorphism, oligospermic men presented the CHDH432GIG genotype more frequently than normozoospermic men （62% vs. 42%, P〈0.001）. The PEMT774GIG genotype was associated with a higher sperm concentration compared to the PEMT774GIC and 774C/C genotypes in oligospermic men （12.5±5.6× 10^6 spermatozoa m1-1 vs. 8.3±5.2×10^6 spermatozoa m1-1, P〈0.002） and normozoospermic men （81.5±55.6×10^6 vs. 68.1±44.5×10^6 spermatozoa m1-1, P〈0.006）. In addition, the CHDH432G/G genotype was associated with higher sperm concentration compared to CHDH432G.T and 432T/T genotypes in oligospermic （11.8±5.1×10^6 vs. 7.8±5.3×10^6 spermatozoa m1-1, P〈0.003） and normozoospermic men （98.6±62.2×10^6 vs. 58.8±＋33.6×10^6 spermatozoa m1-1, P〉0.001）. In our series, the PEMT-774G〈C and CHDH ＋432G〈T polymorphisms were associated with sperm concentration. This finding suggests a possible influence of these genes on sperm quality.Choline is a crucial factor in the regulation of sperm membrane structure and fluidity, and this nutrient plays an important role in the maturation and fertilizing capacity of spermatozoa. Transcripts of phosphatidylethanolamine N-methyltransferase （PEMT） and choline dehydrogenase （CHDH）, two basic enzymes of choline metabolism, have been observed in the human testis, demonstrating their gene expression in this tissue. In the present study, we explored the contribution of the PEMTand CHDHgene variants to sperm parameters. Two hundred oligospermic and 250 normozoospermic men were recruited. DNA was extracted from the spermatozoa, and the PEMT -774G〉C and CHDH ＋432G〉T polymorphisms were genotyped. The genotype distribution of the PEMT-774G〉C polymorphism did not differ between oligospermic and normozoospermic men. In contrast, in the case of the CHDH ＋432G〉T polymorphism, oligospermic men presented the CHDH432GIG genotype more frequently than normozoospermic men （62% vs. 42%, P〈0.001）. The PEMT774GIG genotype was associated with a higher sperm concentration compared to the PEMT774GIC and 774C/C genotypes in oligospermic men （12.5±5.6× 10^6 spermatozoa m1-1 vs. 8.3±5.2×10^6 spermatozoa m1-1, P〈0.002） and normozoospermic men （81.5±55.6×10^6 vs. 68.1±44.5×10^6 spermatozoa m1-1, P〈0.006）. In addition, the CHDH432G/G genotype was associated with higher sperm concentration compared to CHDH432G.T and 432T/T genotypes in oligospermic （11.8±5.1×10^6 vs. 7.8±5.3×10^6 spermatozoa m1-1, P〈0.003） and normozoospermic men （98.6±62.2×10^6 vs. 58.8±＋33.6×10^6 spermatozoa m1-1, P〉0.001）. In our series, the PEMT-774G〈C and CHDH ＋432G〈T polymorphisms were associated with sperm concentration. This finding suggests a possible influence of these genes on sperm quality.

关 键 词：choline dehydrogenase male infertility phosphatidylethanolamine N-methyltransferase PHOSPHOLIPIDS spermconcentration 

分 类 号：Q346.5[生物学—遗传学] Q556.02