Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

Human Reproduction

Volumn 25, Issue 6, 2010, Pages 1383-1397

  Aston, Kenneth I ^a   Krausz, Csilla ^b,c   Laface, Ilaria ^b   Ruiz Castane E ^c   Carrell, Douglas T ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF FLORENCE   (Italy)

^c FUNDACIÓ PUIGVERT   (Spain)

Author keywords

Azoospermia; Gene mutations; Male infertility; Oligozoospermia; SNP

Indexed keywords

DNA;

ARTICLE; AZOOSPERMIA; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; EUROPE; FOLLOW UP; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MALE; MALE INFERTILITY; OLIGOSPERMIA; PILOT STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS; SPERMATOZOON COUNT;

EID: 77952863794     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/deq081     Document Type: Article

References (57)

1. A ZC, Yang Y, Zhang SZ, Li N, Zhang W. Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia. Asian J Androl 2007;9:57-62.
2. Arking DE, Chakravarti A. Understanding cardiovascular disease through the lens of genome-wide association studies. Trends Genet 2009;25: 387-394.
3. Aschim EL, Giwercman A, Stahl O, Eberhard J, Cwikiel M, Nordenskjold A, Haugen TB, Grotmol T, Giwercman YL. The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility. J Clin Endocrinol Metab 2005;90:5343-5348.
4. Aston KI, Carrell DT. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009;30:711-725.
5. Bentz EK, Hefler LA, Denschlag D, Pietrowski D, Buerkle B, Tempfer CB. A polymorphism of the interleukin-1 beta gene is associated with sperm pathology in humans. Fertil Steril 2007;88:751-753.
6. Bertram L, Tanzi RE. Genome-wide association studies in Alzheimer's disease. Hum Mol Genet 2009;18:R137-R145.
7. Bezold G, Lange M, Peter RU. Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility. N Engl J Med 2001; 344:1172-1173.
8. Bult CJ, Eppig JT, Kadin JA, Richardson JE, Blake JA. The Mouse Genome Database (MGD): mouse biology and model systems. Nucleic Acids Res 2008;36:D724-D728.
9. Christensen GL, Wooding SP, Ivanov IP, Atkins JF, Carrell DT. Sequencing and haplotype analysis of the activator of CREM in the testis (ACT) gene in populations of fertile and infertile males. Mol Hum Reprod 2006; 12:257-262.
10. Dhillon VS, Shahid M, Husain SA. Associations of MTHFR DNMT3b 4977bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men. Mol Hum Reprod 2007;13:213-222.
11. Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002;17:13-16.
12. Easton DF, Eeles RA. Genome-wide association studies in cancer. Hum Mol Genet 2008;17:R109-R115.
13. Ebisch IM, van Heerde WL, Thomas CM, van der Put N, Wong WY, Steegers-Theunissen RP. C677T methylenetetrahydrofolate reductase polymorphism interferes with the effects of folic acid and zinc sulfate on sperm concentration. Fertil Steril 2003;80:1190-1194.
14. Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995; 12:921-927.
15. Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009;10:241-251.
16. Galan JJ, Buch B, Cruz N, Segura A, Moron FJ, Bassas L, Martinez-Pineiro L, Real LM, Ruiz A. Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology. Fertil Steril 2005;84:910-918.
17. Galan JJ, De Felici M, Buch B, Rivero MC, Segura A, Royo JL, Cruz N, Real LM, Ruiz A. Association of genetic markers within the KIT and KITLG genes with human male infertility. Hum Reprod 2006;21: 3185-3192.
18. Gazquez C, Oriola J, de Mateo S, Vidal-Taboada JM, Ballesca JL, Oliva R. A common protamine 1 promoter polymorphism (2190 C-. A) correlates with abnormal sperm morphology and increased protamine P1/P2 ratio in infertile patients. J Androl 2008;29:540-548.
19. Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet 2008;124:399-410.
20. Graham RR, Hom G, Ortmann W, Behrens TW. Review of recent genome-wide association scans in lupus. J Intern Med 2009;265: 680-688.
21. Hammoud S, Emery BR, Dunn D, Weiss RB, Carrell DT. Sequence alterations in the YBX2 gene are associated with male factor infertility. Fertil Steril 2009;91:1090-1095.
22. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009;106:9362-9367.
23. Ji G, Gu A, Xia Y, Lu C, Liang J, Wang S, Ma J, Peng Y, Wang X. ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population. Reprod Biomed Online 2008;17:36-41.
24. Krausz C, Giachini C. Genetic risk factors in male infertility. Arch Androl 2007;53:125-133.
25. Lee HC, Jeong YM, Lee SH, Cha KY, Song SH, Kim NK, Lee KW, Lee S. Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility. Hum Reprod 2006; 21:3162-3170.
26. Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet 2008;17:R116-R121.
27. Liu YJ, Papasian CJ, Liu JF, Hamilton J, Deng HW. Is replication the gold standard for validating genome-wide association findings? PLoS One 2008;3:e4037.
28. Liu Z, Zhou S, Liao L, Chen X, Meistrich M, Xu J. The Jmjd1a demethylase-regulated histone modification is essential for crem-regulated gene expression and spermatogenesis. J Biol Chem 2010;285:2758-2770.
29. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-753.
30. Mathew CG. New links to the pathogenesis of Crohn disease provided by genome-wide association scans. Nat Rev Genet 2008;9:9-14.
31. Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008;14:1197-1213.
32. McCarthy MI, Zeggini E. Genome-wide association studies in type 2 diabetes. Curr Diab Rep 2009;9:164-171.
33. Merisalu A, Punab M, Altmae S, Haller K, Tiido T, Peters M, Salumets A. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. Fertil Steril 2007;88:854-859.
34. Moriniere J, Rousseaux S, Steuerwald U, Soler-Lopez M, Curtet S, Vitte AL, Govin J, Gaucher J, Sadoul K, Hart DJ et al. Cooperative binding of two acetylation marks on a histone tail by a single bromodomain. Nature 2009;461:664-668.
35. Nuti F, Krausz C. Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 2008;16:504-513.
36. Oonk RB, Grootegoed JA. Identification of insulin receptors on rat Sertoli cells. Mol Cell Endocrinol 1987;49:51-62.
37. Panoutsopoulou K, Zeggini E. Finding common susceptibility variants for complex disease: past, present and future. Brief Funct Genomic Proteomic 2009;8:345-352.
38. Park JH, Lee HC, Jeong YM, Chung TG, Kim HJ, Kim NK, Lee SH, Lee S. MTHFR C677T polymorphism associates with unexplained infertile male factors. J Assist Reprod Genet 2005;22:361-368.
39. Pivot-Pajot C, Caron C, Govin J, Vion A, Rousseaux S, Khochbin S. Acetylation-dependent chromatin reorganization by BRDT, a testis-specific bromodomain-containing protein. Mol Cell Biol 2003; 23:5354-5365.
40. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003;35:247-251.
41. Savas S, Liu G. Genetic variations as cancer prognostic markers: review and update. Hum Mutat 2009;30:1369-1377.
42. Simon-Sanchez J, Singleton A. Genome-wide association studies in neurological disorders. Lancet Neurol 2008;7:1067-1072.
43. Singh K, Singh SK, Sah R, Singh I, Raman R. Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population. Int J Androl 2005;28:115-119.
44. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, Boutin P, Vincent D, Belisle A, Hadjadj S et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007;445: 881-885.
45. Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P, Calabrese G, Palka G. The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. J Endocrinol Invest 2003;26:620-622.
46. Su D, Zhang W, Yang Y, Deng Y, Ma Y, Song H, Zhang S. Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis. J Androl 2008;29:374-378.
47. Suryavathi V, Khattri A, Gopal K, Rani DS, Panneerdoss S, Gupta NJ, Chakravarty B, Deenadayal M, Singh L, Thangaraj K. Novel variants in UBE2B gene and idiopathic male infertility. J Androl 2008;29:564-571.
48. Suzuki Y, Sasagawa I, Itoh K, Ashida J, Muroya K, Ogata T. Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia. Fertil Steril 2002;78:1341-1343.
49. Thomas MB, Haines SL, Akeson RA. Chemoreceptors expressed in taste, olfactory and male reproductive tissues. Gene 1996;178:1-5.
50. Tuttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M. Gene polymorphisms and male infertility-a meta-analysis and literature review. Reprod Biomed Online 2007;15:643-658.
51. Visser L, Westerveld GH, Korver CM, van Daalen SK, Hovingh SE, Rozen S, van der Veen F, Repping S. Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod 2009;24:2667-2673.
52. Wain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and disease. Lancet 2009;374:340-350.
53. Wang W, Lu N, Xia Y, Gu A, Wu B, Liang J, Zhang W, Wang Z, Su J, Wang X. FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia. Reprod Biomed Online 2009;18:141-147.
54. Yang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ. Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis. J Cell Biol 2008;180:673-679.
55. Zhang W, Zhang S, Xiao C, Yang Y, Zhoucun A. Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. Reproduction 2007;133:511-516.
56. Zhang Z, Xue H, Gong W, Wang M, Yuan L, Han S. FAS promoter polymorphisms and cancer risk: a meta-analysis based on 34 case-control studies. Carcinogenesis 2009;30:487-493.
57. Zhoucun A, Zhang S, Yang Y, Ma Y, Zhang W, Lin L. The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. Eur J Obstet Gynecol Reprod Biol 2006;124:61-64.