An association study of four candidate loci for human male fertility traits with male infertility

Human Reproduction

Volumn 30, Issue 6, 2015, Pages 1510-1514

  Sato, Youichi ^a   Tajima, Atsushi ^a,b   Tsunematsu, Kouki ^a   Nozawa, Shiari ^c   Yoshiike, Miki ^c   Koh, Eitetsue ^b   Kanaya, Jiro ^b   Namiki, Mikio ^b   Matsumiya, Kiyomi ^d   Tsujimura, Akira ^e   Komatsu, Kiyoshi ^f   Itoh, Naoki ^g   Eguchi, Jiro ^h   Imoto, Issei ^a   Yamauchi, Aiko ^a   Iwamoto, Teruaki ^c,i  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b KANAZAWA UNIVERSITY   (Japan)

^c ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d OSAKA POLICE HOSPITAL   (Japan)

^e OSAKA UNIVERSITY   (Japan)

^f Harasanshinkai Hospital   (Japan)

^g SAPPORO MEDICAL UNIVERSITY   (Japan)

^h NAGASAKI UNIVERSITY   (Japan)

ⁱ International University of Health and Welfare   (Japan)

Author keywords

azoospermia; case control association study; Japanese population; male infertility; oligozoospermia

Indexed keywords

DNA; HORMONE; GENETIC MARKER;

ADULT; ARTICLE; AZOOSPERMIA; BLOOD SAMPLING; CONTROLLED STUDY; DOMINANT INHERITANCE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC TRAIT; GENOTYPE; HORMONE BLOOD LEVEL; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; MALE FERTILITY; MALE INFERTILITY; OLIGOSPERMIA; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; POPULATION BASED CASE CONTROL STUDY; RECESSIVE INHERITANCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEMEN ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPERM; SPERMATOZOON DENSITY; ASIAN AMERICAN; CASE CONTROL STUDY; ETHNOLOGY; FERTILITY; GENE FREQUENCY; GENETIC MARKER; GENETICS; JAPAN;

ASIAN AMERICANS; AZOOSPERMIA; CASE-CONTROL STUDIES; FERTILITY; GENE FREQUENCY; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; INFERTILITY, MALE; JAPAN; MALE; OLIGOSPERMIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84939605579     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dev088     Document Type: Article

References (28)

1. AstonKI,CarrellDT.Genome-widestudyof single-nucleotidepolymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009; 30:711-725.
2. Berruti G, Ripolone M, Ceriani M. USP8, a regulator of endosomal sorting, is involved in mouse acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Biol Reprod 2010; 82:930-939.
3. Bezold G, Lange M, Peter RU. Homozygous methylenetetrahydrofolate reductase C677 T mutation and male infertility. N Engl J Med 2001;344: 1172-1173.
4. Chen SS, Chang LS, Chen HW, Wei YH. Polymorphisms of glutathione S-transferase M1 and male infertility in Taiwanese patients with varicocele. Hum Reprod 2002;17:718-725.
5. Finotti AC, Costa E, Silva RC, Bordin BM, Silva CT, Moura KK. Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility. Genet Mol Res 2009;8:1093-1098.
6. Hu Z, Xia Y, Guo X, Dai J, Li H, Hu H, Jiang Y, Lu F, Wu Y, Yang X et al. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat Genet 2012;44:183-186.
7. Iwamoto T, Nozawa S, YoshiikeM, Namiki M, Koh E, Kanaya J, Okuyama A, Matsumiya K, Tsujimura A, Komatsu K et al. Semen quality of fertile Japanese men: a cross-sectional population-based study of 792 men. BMJ Open 2013;3:e002223.
8. Kosova G, Scott NM, Niederberger C, Prins GS, Ober C. Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet 2012;90:950-961.
9. Krausz C, McElreaveyK.Ychromosomeand male infertility. Front Biosci 1999; 4:E1-E8.
10. Maduro MR, Lamb DJ. Understanding new genetics of male infertility. J Urol 2002;168:2197-2205.
11. Maurer B, Simoni M.Ychromosomemicrodeletion screening in infertile men. J Endocrinol Invest 2000;23:664-670.
12. McElreavey K, Krausz C, Bishop CE. The human Y chromosome and male infertility. Results Probl Cell Differ 2000;28:211-232.
13. McLachlan RI, de Kretser DM. Male infertility: the case for continued research. Med J Aust 2001;174:116-117.
14. Nielsen HL, Rønnov-Jessen L, Villadsen R, Petersen OW. Identification of EPSTI1, a novel gene induced by epithelial-stromal interaction in human breast cancer. Genomics 2002;79:703-710.
15. Norambuena PA, Diblik J, KrenkovaP, Paulasova P, MacekM, MacekMSr.An ADP-ribosyltransferase 3 (ART3) variant is associated with reduced sperm counts in Czech males: case/control association study replicating results from the Japanese population. Neuro Endocrinol Lett 2012; 33:48-52.
16. Okada H, Tajima A, Shichiri K, Tanaka A, Tanaka K, Inoue I. Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility. PLoS Genet 2008;4:e26.
17. Pajarinen J, Savolainen V, Perola M, Penttila A, Karhunen PJ. Glutathione S-transferase-M1 'null' genotype and alcohol-induced disorders of human spermatogenesis. Int J Androl 1996;19:155-163.
18. Park JH, Lee HC, Jeong YM, Chung TG, Kim HJ, Kim NK, Lee SH, Lee S. MTHFR C677 T polymorphism associates with unexplained infertile male factors. J Assist Reprod Genet 2005;22:361-368.
19. Polonikov AV, Yarosh SL, Kokhtenko EV, Starodubova NI, Pakhomov SP, Orlova VS. The functional genotype of glutathione S-transferase T1 gene is strongly associated with increased risk of idiopathic infertility in Russian men. Fertil Steril 2010;94:1144-1147.
20. Sato Y, Shinka T, Iwamoto T, Yamauchi A, Nakahori Y. Y chromosome haplogroup D2lineage is associated with azoospermia in Japanese males. Biol Reprod 2013;88:107.
21. Sato Y, Tajima A, Tsunematsu K, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A et al. Lack of replication of four candidate SNPs implicated in human male fertility traits: a large-scale population-based study. Hum Reprod 2015;30:1505-1509.
22. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 2004;27:240-249.
23. 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.
24. Skakkebaek NE, Giwercman A, de Kretser D. Pathogenesis and management of male infertility. Lancet 1994;343:1473-1479.
25. Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod 1998;4:739-744.
26. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Human Mol Genet 1996;5:933-943.
27. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 4th edn. Cambridge: Cambridge University Press; 1999.
28. Zhao H, Xu J, Zhang H, Sun J, Sun Y,Wang Z, Liu J, Ding Q, Lu S, Shi R et al. A genome-wide association study reveals that variants within theHLAregion are associated with risk for nonobstructive azoospermia. Am J Hum Genet 2012;90:900-906.