SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population

Biomarkers

Volumn 18, Issue 8, 2013, Pages 650-654

  Cheng, Pan ^a   Chen, Hui ^a   Liu, Shuo Ran ^a   Pu, Xiao Ying ^a   A, Zhou Cun ^a  

^a DALI UNIVERSITY   (China)

Author keywords

KIT; KITLG; Male infertility; Oligospermia; Polymorphism

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CHINESE; CONTROLLED STUDY; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; KIT GENE; KITLG GENE; MAJOR CLINICAL STUDY; MALE; OLIGOSPERMIA; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BASE SEQUENCE; BIOLOGICAL MARKERS; CHINA; DNA PRIMERS; HUMANS; MALE; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-KIT; STEM CELL FACTOR;

EID: 84889872937     PISSN: 1354750X     EISSN: 13665804     Source Type: Journal    
DOI: 10.3109/1354750X.2013.838307     Document Type: Article

References (34)

1. Azevedo MF, Horvath A, Bornstein ER, et al. (2013). Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor redisposition. J Clin Endocrinol Metab 98:E1393-400
2. Besmer P. (2003). A role for Kit receptor signaling in Leydig cell teroidogenesis. Biol Reprod 69:925-32
3. Blume-Jensen P, Jiang G, Hyman R, et al. (2000). Kit/stem cell factor receptor-induced activation of phosphatidylinositol 30-kinase is essential for male fertility. Nat Genet 24:157-62
4. Coffey J, Linger R, Pugh J, et al. (2008). Somatic KIT mutations occur predominantly in seminoma germ cell tumors and are not predictive of bilateral disease: Report of 220 tumors and review of literature. Genes Chromosomes Cancer 47:34-42
5. Dalgaard MD, Weinhold N, Edsgärd D, et al. (2012). A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. J Med Genet 49: 58-65
6. De Kretser DM, Baker HW. (1999). Infertility in men: Recent advances and continuing controversies. J Clin Endocrinol Metab 84:3443-50
7. Dym M, Jia MC, Dirami G, et al. (1995). Expression of c-kit receptor and its autophosphorylation in immature rat type A spermatogonia. Biol Reprod 52:8-19
8. El-Nahas A, El-Shazly S, El-Fiky S, Watanab T. (2002). Differential effects of the KitW mutation with other Kit allelic combinations on male sterility among inter- or intrasubspecific hybrids in mice. Biochem Genet 40:13-25
9. Ferlin A, Raicu F, Gatta V, et al. (2007). Male infertility: Role of genetic background. Reprod Biomed Online 14:734-45
10. Ferlin A, Pengo M, Pizzol D, et al. (2012). Variants in KITLG predispose to testicular germ cell cancer independently from spermatogenic function. Endocr Relat Cancer 19:101-8
11. Galan JJ, De Felici M, Buch B, et al. (2006). Association of genetic markers within the KIT and KITLG genes with human male infertility. Hum Reprod 21:3185-92
12. Gu Y, Runyan C, Shoemaker A, et al. (2009). Steel factor controls primordial germ cell survival and motility from the time of their specification in the allantois, and provides a continuous niche throughout their migration. Development 136:1295-303
13. Guerif F, Cadoret V, Rahal-Perola V, et al. (2002a). Apoptosis, onset and maintenance of spermatogenesis: Evidence for the involvement of Kit in Kit-haplodeficient mice. Biol Reprod 67:70-9
14. Guerif F, Cadoret V, Plat M, et al. (2002b). Characterization of the fertility of Kit haplodeficient male mice. Int J Androl 25:358-68
15. He Z, Kokkinaki M, Dym M. (2009). Signaling molecules and pathways regulating the fate of spermatogonial stem cells. Microsc Res Tech 72: 586-95
16. Ito C, Maekawa M, Toyama Y, et al. (2004). Impairment of spermatogenesis leading to infertility. Anat Sci Int 79:101-11
17. Kanetsky PA, Mitra N, Vardhanabhuti S, et al. (2009). Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet 41:811-15
18. Lennartsson J, Jelacic T, Linnekin D, Shivakrupa R. (2005). Normal and oncogenic forms of the receptor tyrosine kinase kit. Stem Cells 23: 16-43
19. Massart A, Lissens W, Tournaye H, Stouffs K. (2012). Genetic causes of spermatogenic failure. Asian J Androl 14:40-8
20. Mithraprabhu S, Loveland KL. (2009). Control of KIT signalling in male germ cells: What can we learn from other systems? Reproduction 138: 743-57
21. Nachtigall RD. (2006). International disparities in access to infertility services. Fertil Steril 85:871-5
22. Ohta H, Yomogida K, Dohmae K, Nishimune Y. (2000). Regulation of proliferation and differentiation in spermatogonial stem cells: The role of c-kit and its ligand SCF. Development 127:2125-31
23. Packer AI, Besmer P, Bachvarova RF. (1995). Kit ligand mediates survival of type A spermatogonia and dividing spermatocytes in postnatal mouse testes. Mol Reprod Dev 42:303-10
24. Poynter JN, Hooten AJ, Frazier AL, Ross JA. (2012). Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors. Genes Chromosomes Cancer 51:266-71
25. Rodriguez S, Gaunt TR, Day IN. (2009). Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 169:505-14
26. Ronnstrand L. (2004). Signal transduction via the stem cell factor receptor/c-Kit. Cell Mol Life Sci 61:2535-48
27. Rothschild G, Sottas CM, Kissel H, et al. (2004). Biology of protooncogene c-kit receptor and spermatogenesis. Curr Pharmacogenomics 2:47-60
28. Runyan C, Schaible K, Molyneaux K, et al. (2006). Steel factor controls midline cell death of primordial germ cells and is essential for their normal proliferation and migration. Development 133:4861-9
29. Simoni M, Bakker E, Krausz C. (2004). EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. Int J Androl 27:240-9
30. Vincent S, Segretain D, Nishikawa S, et al. (1998). Stage-specific expression of the Kit receptor and its ligand (KL) during male gametogenesis in the mouse: A Kit-KL interaction critical for meiosis. Development 125:4585-93
31. Vliagoftis H, Worobec AS, Metcalfe DD. (1997). The protooncogene c-kit and c-kit ligand in human disease. J Allergy Clin Immunol 100: 435-40
32. World Health Organization. (2010). WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 5th ed. Cambridge, UK: Cambridge University Press
33. Yan W, Suominen J, Toppari J. (2000). Stem cell factor protects germ cells from apoptosis in vitro. J Cell Sci 113:161-8
34. Zhang L, Tang J, Haines CJ, et al. (2011). c-kit and its related genes in spermatogonial differentiation. Spermatogenesis 1:186-94.