Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality

Human Reproduction

Volumn 24, Issue 10, 2009, Pages 2439-2446

  Ji, Guixiang ^a   Gu, Aihua ^a   Hu, Fan ^a   Wang, Shoulin ^a   Liang, Jie ^b   Xia, Yankai ^a   Lu, Chuncheng ^a   Song, Ling ^a   Fu, Guangbo ^a   Wang, Xinru ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b JIANGSU PROVINCIAL CENTER FOR DISEASE CONTROL AND PREVENTION   (China)

Author keywords

CASP8; FAS; FASLG; Polymorphisms; Semen quality

Indexed keywords

CASPASE 8; FAS ANTIGEN; FAS LIGAND;

ADULT; APOPTOSIS; ARTICLE; CONTROLLED STUDY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN EXPERIMENT; MALE; MALE INFERTILITY; NICK END LABELING; SEMEN ANALYSIS; SPERM; SPERMATOZOON DENSITY; SPERMATOZOON MOTILITY;

ANTIGENS, CD95; APOPTOSIS; CASPASE 8; GENOTYPE; HUMANS; INFERTILITY, MALE; MALE; POLYMORPHISM, GENETIC; SEMEN ANALYSIS; SPERM MOTILITY; SPERMATOZOA;

EID: 70349459789     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dep223     Document Type: Article

References (33)

1. Brennan P. Gene-environment interaction and aetiology of cancer: what does it mean and how can we measure it? Carcinogenesis 2002;23:381-387.
2. Brinkworth MH. Paternal transmission of genetic damage: findings in animals and humans. Int J Androl 2000;23:123-135.
3. Castro A, Parodi D, Morales I, Madariaga M, Rios R, Smith R. Absence of Fas protein detection by flow cytometry in human spermatozoa. Fertil Steril 2004;81:1019-1125.
4. Cohen -Bacrie P, Belloc S, Ménézo YJ, Clement P, Hamidi J, Benkhalifa M. Correlation between DNA damage and sperm parameters: a prospective study of 1,633 patients. Fertil Steril 2008; Epub ahead of print.
5. Dunkel L, Hirvonen V, Erkkilä K. Clinical aspects of male germ cell apoptosis during testis development and spermatogenesis. Cell Death Differ 1997;4:171-179.
6. Huang QR, Morris D, Manolios N. Identification and characterization of polymorphisms in the promoter region of the human Apo-1/Fas (CD95) gene. Mol Immunol 1997;34:577-582.
7. Jensen TK, Carlsen E, Jørgensen N, Berthelsen JG, Keiding N, Christensen K, Petersen JH, Knudsen LB, Skakkebaek NE. Poor semen quality may contribute to recent decline in fertility rates. Hum Reprod 2002;17:1437-1440.
8. Kim SK, Yoon YD, Park YS, Seo JT, Kim JH. Involvement of the Fas-Fas ligand system and active caspase-3 in abnormal apoptosis in human testes with maturation arrest and Sertoli cell-only syndrome. Fertil Steril 2007;87:547-553.
9. Koji T, Hishikawa Y, Ando H, Nakanishi Y, Kobayashi N. Expression of Fas and Fas ligand in normal and ischemia-reperfusion testes: involvement of the Fas system in the induction of germ cell apoptosis in the damaged mouse testis. Biol Reprod 2001;64:946-954.
10. Lee J,Richburg JH,Younkin SC, BoekelheideK.The fas systemis a key regulator of germ cell apoptosis in the testis. Endocrinology 1997;138:2081-2088.
11. Lee J, Richburg JH, Shipp EB, Meistrich ML, Boekelheide K. The Fas system, a regulator of testicular germ cell apoptosis, is differentially up-regulated in Sertoli cell versus germ cell injury of the testis. Endocrinology 1999; 140:852-858.
12. MacPherson G, Healey CS, Teare MD, Balasubramanian SP, Reed MW, Pharoah PD, Ponder BA, Meuth M, Bhattacharyya NP, Cox A. Association of a common variant of the CASP8 gene with reduced risk of breast cancer. J Natl Cancer Inst 2004;96:1866-1869.
13. Marchetti C, Obert G, Deffosez A, Formstecher P, Marchetti P. Study of mitochondrial membrane potential, reactive oxygen species, DNA fragmentation and cell viability by flow cytometry in human sperm. Hum Reprod 2002;17:1257-1265.
14. Marchetti C, Gallego MA, Defossez A, Formstecher P, Marchetti P. Staining of human sperm with .uorochrome-labeled inhibitor of caspases to detect activated caspases: correlation with apoptosis and sperm parameters. Hum Reprod 2004;19:1127-1134.
15. McVicar CM, McClure N, Williamson K, Dalzell LH, Lewis SE. Incidence of Fas positivity and deoxyribonucleic acid double-stranded breaks in human ejaculated sperm. Fertil Steril 2004;81:767-774.
16. Nagata S. Fas ligand-induced apoptosis. Annu Rev Genet 1999;33:29-55.
17. Oehm A, Behrmann I, Falk W, Pawlita M, Maier G, Klas C, Li-Weber M, Richards S, Dhein J, Trauth BC et al. Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily. Sequence identity with the Fas antigen. J Biol Chem 1992;267:10709-10715.
18. Paasch U, Grunewald S, Wuendrich K, Glander HJ. Caspases are associated with apoptosis in human ejaculated spermatozoa and in spermatogenesis. J Androl 2001;22:91.
19. Pentikainen V, Erkkila K, Dunkel L. Fas regulates germ cell apoptosis in the human testis in vitro. Am J Physiol 1999;276:310-316.
20. Perticarari S, Ricci G, Boscolo R, De Santis M, Pagnini G, Martinelli M, Presani G. Fas receptor is not present on ejaculated human sperm. Hum Reprod 2008;23:1271-1279.
21. Sakkas D, Mariethoz E, St John JC. Abnormal sperm parameters in humans are indicative of an abortive apoptotic mechanism linked to the Fas-mediated pathway. Exp Cell Res 1999;251:350-355.
22. Sergerie M, Ouhilal S, Bissonnette F, Brodeur J, Bleau G. Lack of association between smoking and DNA fragmentation in the spermatozoa of normal men. Hum Reprod 2000;15:1314-1321.
23. Sergerie M, Laforest G, Bujan L, Bissonnette F, Bleau G. Sperm DNA fragmentation: threshold value in male fertility. Hum Reprod 2005; 20:3446-3451. (Pubitemid 41742526)
24. Shen HM, Dai J, Chia SE, Lim A, Ong CN. Detection of apoptotic alterations in sperm in subfertile patients and their correlations with sperm quality. Hum Reprod 2002;17:1266-1273.
25. Sibley K, Rollinson S, Allan JM, Smith AG, Law GR, Roddam PL, Skibola CF, Smith MT, Morgan GJ. Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res 2003;63:4327-4330.
26. Siegel RM. Caspases at the crossroads of immunecell life and death. Nat Rev Immunol 2006;6:308-317.
27. Suda T, Takahashi T, Golstein P, Nagata S. Molecular cloning and expression of the Fas ligand, a novel member of the tumor necrosis factor family. Cell 1993;75:1169-1178.
28. Sun T, Miao X, Zhang X, Tan W, Xiong P, Lin D. Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma. J Natl Cancer Inst 2004;96:1030-1036.
29. Sun T, Gao Y, Tan W, Ma S, Shi Y, Yao J, Guo Y, Yang M, Zhang X, Zhang Q et al. A six-nucleotide insertiondeletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. Nat Genet 2007;39:605-613.
30. World Health Organization. WHO Laboratory Manual for the Examination of Human Sperm and Sperm-Cervical Mucus Interaction, 4th edn. Cambridge: Cambridge University Press, 1999.
31. Wu J, Metz C, Xu X, Abe R, Gibson AW, Edberg JC, Cooke J, Xie F, Cooper GS, Kimberly RP. A novel polymorphic CAAT/ enhancer-binding protein beta element in the FASLG gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients. J Immunol 2003; 170:132-138.
32. Xie B, Shi H, Chen Q, Ho CT. Antioxidant properties of fractions and polyphenol constituents from green, oolong and black teas. Proc Natl Sci Counc Repub China B 1993;17:77-84.
33. Zhang X, Miao X, Sun T, TanW, Qu S, Xiong P, Zhou Y, Lin D. Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer. J Med Genet 2005;42:479-484.