Evaluation of five candidate genes from GWAS for association with oligozoospermia in a han Chinese population

PLoS ONE

Volumn 8, Issue 11, 2013, Pages

  Xu, Miaofei ^a,b   Qin, Yufeng ^a,b   Qu, Jianhua ^a,b,c   Lu, Chuncheng ^a,b   Wang, Ying ^a,b   Wu, Wei ^a,b   Song, Ling ^a,b   Wang, Shoulin ^a,b   Chen, Feng ^a   Shen, Hongbing ^a,b   Sha, Jiahao ^a   Hu, Zhibin ^a,b   Xia, Yankai ^a,b   Wang, Xinru ^a,b  

^a NANJING MEDICAL UNIVERSITY   (China)

^b Nanjing Medical University   (China)

^c NANTONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AZOOSPERMIA; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HIGH THROUGHPUT SEQUENCING; HUMAN; MAJOR CLINICAL STUDY; MALE; OLIGOSPERMIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; EXOME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; OLIGOSPERMIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84896728563     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0080374     Document Type: Article

References (30)

1. Hirsh A (2003) Male subfertility. BMJ 327: 669-672.
2. Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, et al. (2005) EAU guidelines on male infertility. Eur Urol 48: 703-711. (Pubitemid 41508883)
3. Bhasin S, Ma K, de Kretser DM (1997) Y-chromosome microdeletions and male infertility. Ann Med 29: 261-263. (Pubitemid 27399943)
4. Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, et al. (2002) Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 17: 13-16. (Pubitemid 34130254)
5. Ferlin A, Arredi B, Foresta C (2006) Genetic causes of male infertility. Reprod Toxicol 22: 133-141. (Pubitemid 43994384)
6. Aston KI, Krausz C, Laface I, Ruiz-Castane E, Carrell DT (2010) Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 25: 1383-1397.
7. Aston KI, Carrell DT (2009) Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 30: 711-725.
8. Hu Z, Xia Y, Guo X, Dai J, Li H, et al. (2012) A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat Genet 44: 183-186.
9. Wu B, Lu NX, Xia YK, Gu AH, Lu CC, et al. (2007) A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Human Reproduction 22: 1107-1113.
10. Lu CC, Zhang J, Li YC, Xia YK, Zhang F, et al. (2009) The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Human Molecular Genetics 18: 1122-1130.
11. Cooper TG, Noonan E, von Eckardstein S, Auger J, Baker HW, et al. (2010) World Health Organization reference values for human semen characteristics. Hum Reprod Update 16: 231-245.
12. Chen X, Li S, Yang Y, Yang X, Liu Y, et al. (2012) Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease. J Thromb Haemost 10: 1508-1514.
13. van den Berg TK, van Beek EM, Buhring HJ, Colonna M, Hamaguchi M, et al. (2005) A nomenclature for signal regulatory protein family members. J Immunol 175: 7788-7789. (Pubitemid 41798336)
14. Kharitonenkov A, Chen ZJ, Sures I, Wang HY, Schilling J, et al. (1997) A family of proteins that inhibit signalling through tyrosine kinase receptors. Nature 386: 181-186. (Pubitemid 27131446)
15. Johansen ML, Brown EJ (2007) Dual regulation of SIRPalpha phosphorylation by integrins and CD47. J Biol Chem 282: 24219-24230. (Pubitemid 47328059)
16. Latour S, Tanaka H, Demeure C, Mateo V, Rubio M, et al. (2001) Bidirectional negative regulation of human T and dendritic cells by CD47 and its cognate receptor signal-regulator protein-alpha: down-regulation of IL-12 responsiveness and inhibition of dendritic cell activation. J Immunol 167: 2547-2554. (Pubitemid 32768881)
17. Veillette A, Thibaudeau E, Latour S (1998) High expression of inhibitory receptor SHPS-1 and its association with protein-tyrosine phosphatase SHP-1 in macrophages. J Biol Chem 273: 22719-22728. (Pubitemid 28399844)
18. Adams S, van der Laan LJW, Vernon-Wilson E, de Lavalette CR, Dopp EA, et al. (1998) Signal-regulatory protein is selectively expressed by myeloid and neuronal cells. Journal of Immunology 161: 1853-1859. (Pubitemid 28387606)
19. Stofega MR, Argetsinger LS, Wang H, Ullrich A, Carter-Su C (2000) Negative regulation of growth hormone receptor/JAK2 signaling by signal regulatory protein alpha. J Biol Chem 275: 28222-28229.
20. Wu CJ, Chen ZJ, Ullrich A, Greene MI, O'Rourke DM (2000) Inhibition of EGFR-mediated phosphoinositide-3-OH kinase (PI3-K) signaling and glioblastoma phenotype by Signal-Regulatory Proteins (SIRPs). Oncogene 19: 3999-4010.
21. Neznanov N, Neznanova L, Kondratov RV, Burdelya L, Kandel ES, et al. (2003) Dominant negative form of signal-regulatory protein-alpha (SIRP alpha/SHPS-1) inhibits tumor necrosis factor-mediated apoptosis by activation of NF-kappa B. Journal of Biological Chemistry 278: 3809-3815. (Pubitemid 36801108)
22. Takenaka K, Prasolava TK, Wang JC, Mortin-Toth SM, Khalouei S, et al. (2007) Polymorphism in Sirpa modulates engraftment of human hematopoietic stem cells. Nat Immunol 8: 1313-1323. (Pubitemid 350138972)
23. Lee RC, Feinbaum RL, Ambros V (1993) The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell 75: 843-854. (Pubitemid 24014542)
24. Barenboim M, Zoltick BJ, Guo Y, Weinberger DR (2010) MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets. Hum Mutat 31: 1223-1232.
25. Thomas LF, Saito T, Saetrom P (2011) Inferring causative variants in microRNA target sites. Nucleic Acids Res 39: e109.
26. Lefebvre V (2010) The SoxD transcription factors-Sox5, Sox6, and Sox13-are key cell fate modulators. Int J Biochem Cell Biol 42: 429-432.
27. Degnan BM, Vervoort M, Larroux C, Richards GS (2009) Early evolution of metazoan transcription factors. Curr Opin Genet Dev 19: 591-599.
28. Phochanukul N, Russell S (2010) No backbone but lots of Sox: Invertebrate Sox genes. International Journal of Biochemistry & Cell Biology 42: 453-464.
29. Kiselak EA, Shen X, Song J, Gude DR, Wang J, et al. (2010) Transcriptional regulation of an axonemal central apparatus gene, sperm-associated antigen 6, by a SRY-related high mobility group transcription factor, S-SOX5. J Biol Chem 285: 30496-30505.
30. Xu W, Zhang S, Qiu W, He G, Liu Y, et al. (2009) Spermatogenesis-related ring finger gene ZNF230 promoter: identification and functional analysis. Mol Biol Rep 36: 1187-1193.