FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia

Reproductive BioMedicine Online

Volumn 18, Issue 1, 2009, Pages 141-147

  Wang, Wei ^a   Lu, Ningxia ^a   Xia, Yankai ^a   Gu, Aihua ^a   Wu, Bin ^a   Liang, Jie ^a   Zhang, Wei ^a   Wang, Zengjun ^a   Su, Jiantang ^a   Wang, Xinru ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Azoospermia; FAS; FASLG; Male infertility; Severe oligozoospermia; SNP

Indexed keywords

ADENOSINE; CYTOSINE; FAS ANTIGEN; FAS LIGAND; GUANOSINE; THYMIDINE;

APOPTOSIS; ARTICLE; AZOOSPERMIA; CHINESE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; DNA POLYMORPHISM; GENE FREQUENCY; GENETIC PREDISPOSITION; GENOTYPE; HIGH RISK POPULATION; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 58649096392     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60436-1     Document Type: Article

References (50)

1. Allan DJ, Harmon BV, Roberts SA 2002 Spermatogonial apoptosis has three morphologically recognizable phases and shows no circadian rhythm during normal spermatogenesis in the rat. Cell Proliferation 25, 241-250.
2. Blanco-Rodriguez J, Martinez-Garcia C 1996 Spontaneous germ cell death in the testis of the adult rat takes the form of apoptosis: re-evaluation of cell types that exhibit the ability to die during spermatogenesis. Cell Proliferation 29, 13-31.
3. Brehm R, Steger K 2005 Regulation of Sertoli cell and germ cell differentiation. Advances in Anatomy, Embryology, and Cell Biology 181, 1-93.
4. Diemer T, Desjardins C 1999 Developmental and genetic disorders in spermatogenesis. Human Reproduction Update 5, 120-140.
5. Francavilla S, D'Abrizio P, Cordeschi G et al. 2002 Fas expression correlates with human germ cell degeneration in meiotic and postmeiotic arrest of spermatogenesis. Molecular Human Reproduction 8, 213-220.
6. Francavilla S, D'Abrizio P, Rucci N et al. 2000 Fas and Fas ligand expression in fetal and adult human testis with normal or deranged spermatogenesis. Journal of Clinical Endocrinology and Metabolism 85, 2692-2700.
7. Hikim AP, Wang C, Lue Y et al. 1998 Spontaneous germ cell apoptosis in humans: evidence for ethnic differences in the susceptibility of germ cells to programmed cell death. Journal of Clinical Endocrinology and Metabolism 83, 152-156.
8. Hiraide A, Imazeki F, Yokosuka O et al. 2005 Fas polymorphisms influence susceptibility to autoimmune hepatitis. American Journal of Gastroenterology 100, 1322-1329.
9. Huang QR, Morris D, Manolios N 1997 Identification and characterization of polymorphisms in the promoter region of the human Apo-1/Fas (CD95) gene. Molecular Immunology 34, 577-582.
10. Huckins C 1978 The morphology and kinetics of spermatogonial degeneration in normal adult rats: an analysis using a simplified classification of germinal epithelium. Anatomical Record 190, 905-926.
11. Itoh N, Yonehara S, Ishii A et al. 1991 The polypeptide encoded by the eDNA for human cell surface antigen Fas can mediate apoptosis. Cell 66, 233-243.
12. Johnson L, Petty CS, Neaves WB 1983 Further quantification of human spermatogenesis: germ cell loss during postprophase of meiosis and its relationship to daily sperm production. Biology of Reproduction 29, 207-215.
13. Knudson CM, Tung KSK, Toutellotte WG et al. 1995 Bax-deficient mice with lymphoid hyperplasia and male germ cell death. Science 270, 96-99.
14. Koji T 2001 Male germ cell death in mouse testes: possible involvement of Fas and Fas ligand. Medical Electron Microscopy 34, 213-222.
15. Koji T, Hishikawa Y 2003 Germ cell apoptosis and its molecular trigger in mouse testes. Archives of Histology and Cytology 66, 1-16.
16. Koji T, Hishikawa Y, Ando H et al. 2001 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. Biology of Reproduction 64, 946-954.
17. Lee J, Richburg JH, Shipp EB et al. 1999 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 140, 852-858.
18. Lee J, Richburg JH, Younkin SC, Boekelheide K 1997 The Fas system is a key regulator of germ cell apoptosis in the testis. Endocrinology 138, 2081-2088.
19. Li C, Wu W, Liu J et al. 2006 Functional polymorphisms in the promoter regions of the FAS and FAS ligand genes and risk of bladder cancer in south China - a case-control analysis. Pharmacogenetics and Genomics 16, 245-251.
20. Lizama C, Alfaro I, Reyes JG, Moreno RD 2007 Up-regulation of CD95 (Apo-1/Fas) is associated with spermatocyte apoptosis during the first round of spermatogenesis in the rat. Apoptosis 12, 499-512.
21. Look DC, Pelletier MR, Tidwell RM et al. 1995 Stat1 depends on transcriptional synergy with Sp1. Journal of Biological Chemistry 270, 30264-30267.
22. Lysiak JJ, Turner SD, Turner TT 2000 Molecular pathway of germ cell apoptosis following ischemia/reperfusion of the rat testis. Biology of Reproduction 63, 1465-1472.
23. Miller SA, Dykes DD, Polesky HF 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 16, 1215.
24. Mullighan CG, Heatley S, Lester S et al. 2004 Fas gene promoter polymorphisms in primary Sjögren's syndrome. Annals of the Rheumatic Diseases 63, 98-101.
25. Nagata S, Golstein P 1995 The Fas death factor. Science 267, 1449-1456.
26. Nakamuta N, Kobayashi S 2004 Developmental expression of p63 in the mouse testis. Journal of Veterinary Medical Science 66, 681-687.
27. Oakberg EF 1956 A description of spermatogenesis in the mouse and its use in analysis of the cycle of seminiferous epithelium and germ cell renewal. American Journal of Anatomy 99, 391-413.
28. Oehm A, Behrmann I, Falk W et al. et al. 1992 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. Journal of Biological Chemistry 267, 10709-10715.
29. Pugh BF, Tjian R 1995 Mechanism of transcriptional activation by Sp1: evidence for coactivators. Cell 61, 1187-1197.
30. Rao KL, Babu KA, Kanakavalli MK e tal. 2005 Prevalence of chromosome defects in azoospermic and oligoasthenoteratozoospermic South Indian infertile men attending an infertility Clinic. Reproductive BioMedicine Online 10, 467-472.
31. Richburg JH, Nanez A, Williams LR et al. 2000 Sensitivity of testicular germ cells to toxicant-induced apoptosis in gld mice that express a nonfunctional form of Fas ligand. Endocrinology 141, 787-793.
32. Rodriguez I, Ody C, Araki K et al. 1997 An early and massive wave of germinal cell apoptosis is required for the development of functional spermatogenesis. EMBO Journal 16, 2262-2270.
33. Sakkas D, Mariethoz E, St John JC 1999 Abnormal sperm parameters in humans are indicative of an abortive apoptotic mechanism linked to the Fas-mediated pathway. Experimental Cell Research 251, 350-355.
34. Seo JC, Han SW, Yin CS et al. 2002 Evaluation of a Apo-1/Fas promoter polymorphism in Korean stroke patients. Experimental and Molecular Medicine 34, 294-298.
35. Sibley K, Rollinson S, Allan JM et al. 2003 Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Research 63, 4327-4330.
36. Stuck BJ, Pani MA, Besrour F et al. 2003 Fas ligand gene polymorphisms are not associated with Hashimoto's thyroiditis and Graves' disease. Human Immunology 64, 285-289.
37. Suda T, Takahashi T, Golstein P, Nagata S 1993 Molecular cloning and expression of the Fas ligand, a novel member of the tumor necrosis factor family. Cell 75, 1169-1178.
38. Sun T, Miao X, Zhang X et al. 2004 Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma. Journal of the National Cancer Institute 96, 1030-1036.
39. Takahashi T, Tanaka M, Inazawa J et al. 1994 Human Fas ligand: gene structure, chromosomal location and species specificity. International Immunology 6, 1567-1574.
40. Trauth BC, Klas C, Peters AM et al. 1989 Monoclonal antibody-mediated tumor regression by induction of apoptosis. Science 245, 301-305.
41. Wang LE, Cheng L, Spitz MR, Wei Q 2003 Fas A670G polymorphism, apoptotic capacity in lymphocyte cultures, and risk of lung cancer. Lung Cancer 42, 1-8.
42. Woolveridge I, de Boer-Brouwer M, Taylor ME et al. 1999 Apoptosis in the rat spermatogenic epithelium following androgen withdrawal: changes in apoptosis-related genes. Biology of Reproduction 60, 461-470.
43. World Health Organization (WHO) (1999) WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 4th edn. Cambridge University Press, Cambridge, UK.
44. Wu J, Alizadeh BZ, Veen TV et al. 2004 Association of FAS (TNFRSF6)-670 gene polymorphism with villous atrophy in coeliac disease. World Journal of Gastroenterology 10, 717-720.
45. Wu J, Metz C, Xu X et al. 2003 A novel polymorphic CAAT/ enhancer-binding protein beta element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients. Journal of Immunology 170, 132-138.
46. Yamamoto CM, Hikim AP, Lue Y et al. 2001 Impairment of spermatogenesis in transgenic mice with selective overexpression of Bcl-2 in the somatic cells of the testis. Journal of Andrology 22, 981-991.
47. Yin Y, Stahl BC, DeWolf WC, Morgentaler A 2002 P53 and Fas are sequential mechanisms of testicular germ cell apoptosis. Journal of Andrology 23, 64-70.
48. Zhang X, Miao X, Sun T et al. 2005 Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer. Journal of Medical Genetics 42, 479-484.
49. Zhang Z, Wang LE, Sturgis EM et al. 2006 Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck. Clinical Cancer Research 12, 5596-5602.
50. Zhao JH 2004 2LD, GENECOUNTING and HAP: computer programs for linkage disequilibrium analysis. Bioinformatics 20, 1325-1326. (See also http://www.mrc-epid.cam.ac.uk/Personal/jinghua.zhao/software/ 2Id.htm accessed 7 November 2008).