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Volumn 2, Issue 3, 2014, Pages 315-321

Genetic susceptibility to male infertility: News from genome-wide association studies

Author keywords

Copy number variant; Gene mutation; Gene polymorphism; Gene sequencing; Genetic disorders; Genome studies; Genome wide association study; Male infertility; Microarray; Single nucleotide polymorphism; Whole genome sequencing

Indexed keywords

COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DISEASE SEVERITY; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; KLINEFELTER SYNDROME; MALE INFERTILITY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS; TESTIS DEVELOPMENT; Y CHROMOSOME; CHROMOSOME DELETION; DISORDER OF SEX DEVELOPMENT; GENETIC PREDISPOSITION; GENETICS; MALE; SEX CHROMOSOME ABERRATION;

EID: 84899122184     PISSN: 20472919     EISSN: 20472927     Source Type: Journal    
DOI: 10.1111/j.2047-2927.2014.00188.x     Document Type: Review
Times cited : (52)

References (25)
  • 1
    • 71949114942 scopus 로고    scopus 로고
    • Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia
    • Aston KI & Carrell DT. (2009) Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 30, 711-725.
    • (2009) J Androl , vol.30 , pp. 711-725
    • Aston, K.I.1    Carrell, D.T.2
  • 2
    • 77952863794 scopus 로고    scopus 로고
    • Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent
    • 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.
    • (2010) Hum Reprod , vol.25 , pp. 1383-1397
    • Aston, K.I.1    Krausz, C.2    Laface, I.3    Ruiz-Castane, E.4    Carrell, D.T.5
  • 3
    • 0037442092 scopus 로고    scopus 로고
    • Population stratification and spurious allelic association
    • Cardon LR & Palmer LJ. (2003) Population stratification and spurious allelic association. Lancet 361, 598-604.
    • (2003) Lancet , vol.361 , pp. 598-604
    • Cardon, L.R.1    Palmer, L.J.2
  • 4
    • 78651356342 scopus 로고    scopus 로고
    • The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility
    • Carrell DT & Aston KI. (2011) The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility. Syst Biol Reprod Med 57, 17-26.
    • (2011) Syst Biol Reprod Med , vol.57 , pp. 17-26
    • Carrell, D.T.1    Aston, K.I.2
  • 5
    • 84856013409 scopus 로고    scopus 로고
    • A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
    • Dalgaard MD, Weinhold N, Edsgard D, Silver JD, Pers TH, Nielsen JE 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.
    • (2012) J Med Genet , vol.49 , pp. 58-65
    • Dalgaard, M.D.1    Weinhold, N.2    Edsgard, D.3    Silver, J.D.4    Pers, T.H.5    Nielsen, J.E.6
  • 6
    • 35348934239 scopus 로고    scopus 로고
    • Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
    • Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR et al. (2007) Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 81, 813-820.
    • (2007) Am J Hum Genet , vol.81 , pp. 813-820
    • Dam, A.H.1    Koscinski, I.2    Kremer, J.A.3    Moutou, C.4    Jaeger, A.S.5    Oudakker, A.R.6
  • 7
    • 84876591347 scopus 로고    scopus 로고
    • Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome
    • Greco E, Scarselli F, Minasi MG, Casciani V, Zavaglia D, Dente D et al. (2013) Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome. Hum Reprod 28, 1155-1160.
    • (2013) Hum Reprod , vol.28 , pp. 1155-1160
    • Greco, E.1    Scarselli, F.2    Minasi, M.G.3    Casciani, V.4    Zavaglia, D.5    Dente, D.6
  • 8
    • 79952469179 scopus 로고    scopus 로고
    • A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation
    • Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C et al. (2011) A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet 88, 351-361.
    • (2011) Am J Hum Genet , vol.88 , pp. 351-361
    • Harbuz, R.1    Zouari, R.2    Pierre, V.3    Ben Khelifa, M.4    Kharouf, M.5    Coutton, C.6
  • 9
    • 84856287420 scopus 로고    scopus 로고
    • A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia
    • Hu Z, Xia Y, Guo X, Dai J, Li H, Hu 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.
    • (2012) Nat Genet , vol.44 , pp. 183-186
    • Hu, Z.1    Xia, Y.2    Guo, X.3    Dai, J.4    Li, H.5    Hu, H.6
  • 11
    • 84862116032 scopus 로고    scopus 로고
    • Genome-wide association study identifies candidate genes for male fertility traits in humans
    • Kosova G, Scott NM, Niederberger C, Prins GS & Ober C. (2012) Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet 90, 950-961.
    • (2012) Am J Hum Genet , vol.90 , pp. 950-961
    • Kosova, G.1    Scott, N.M.2    Niederberger, C.3    Prins, G.S.4    Ober, C.5
  • 13
    • 84867290682 scopus 로고    scopus 로고
    • High resolution X chromosome-specific array-CGH detects new CNVs in infertile males
    • Krausz C, Giachini C, Lo Giacco D, Daguin F, Chianese C, Ars E et al. (2012) High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS ONE 7, e44887.
    • (2012) PLoS ONE , vol.7
    • Krausz, C.1    Giachini, C.2    Lo Giacco, D.3    Daguin, F.4    Chianese, C.5    Ars, E.6
  • 14
    • 84875985784 scopus 로고    scopus 로고
    • Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1
    • Lopes AM, Aston KI, Thompson E, Carvalho F, Goncalves J, Huang N et al. (2013) Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet 9, e1003349.
    • (2013) PLoS Genet , vol.9
    • Lopes, A.M.1    Aston, K.I.2    Thompson, E.3    Carvalho, F.4    Goncalves, J.5    Huang, N.6
  • 15
    • 63449100576 scopus 로고    scopus 로고
    • Reproduction in men with Klinefelter syndrome: the past, the present, and the future
    • Paduch DA, Bolyakov A, Cohen P & Travis A. (2009) Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin Reprod Med 27, 137-148.
    • (2009) Semin Reprod Med , vol.27 , pp. 137-148
    • Paduch, D.A.1    Bolyakov, A.2    Cohen, P.3    Travis, A.4
  • 17
    • 33645418499 scopus 로고    scopus 로고
    • High mutation rates have driven extensive structural polymorphism among human Y chromosomes
    • Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD et al. (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38, 463-467.
    • (2006) Nat Genet , vol.38 , pp. 463-467
    • Repping, S.1    van Daalen, S.K.2    Brown, L.G.3    Korver, C.M.4    Lange, J.5    Marszalek, J.D.6
  • 18
    • 0142091380 scopus 로고    scopus 로고
    • A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets
    • Schultz N, Hamra FK & Garbers DL. (2003) A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci U S A 100, 12201-12206.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 12201-12206
    • Schultz, N.1    Hamra, F.K.2    Garbers, D.L.3
  • 19
    • 84864503114 scopus 로고    scopus 로고
    • Genome-wide screening of severe male factor infertile patients using BAC-array comparative genomic hybridization (CGH)
    • Song SH, Shim SH, Bang JK, Park JE, Sung SR & Cha DH. (2012) Genome-wide screening of severe male factor infertile patients using BAC-array comparative genomic hybridization (CGH). Gene 506, 248-252.
    • (2012) Gene , vol.506 , pp. 248-252
    • Song, S.H.1    Shim, S.H.2    Bang, J.K.3    Park, J.E.4    Sung, S.R.5    Cha, D.H.6
  • 20
    • 84873057137 scopus 로고    scopus 로고
    • Association of the Glutathione S-transferases M1 and T1 polymorphism with male infertility: a meta-analysis
    • Song X, Zhao Y, Cai Q, Zhang Y & Niu Y. (2013) Association of the Glutathione S-transferases M1 and T1 polymorphism with male infertility: a meta-analysis. J Assist Reprod Genet 30, 131-141.
    • (2013) J Assist Reprod Genet , vol.30 , pp. 131-141
    • Song, X.1    Zhao, Y.2    Cai, Q.3    Zhang, Y.4    Niu, Y.5
  • 22
    • 79955782135 scopus 로고    scopus 로고
    • Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome
    • Tuttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P et al. (2011) Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. PLoS ONE 6, e19426.
    • (2011) PLoS ONE , vol.6
    • Tuttelmann, F.1    Simoni, M.2    Kliesch, S.3    Ledig, S.4    Dworniczak, B.5    Wieacker, P.6
  • 23
    • 84866607665 scopus 로고    scopus 로고
    • Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters
    • Tuttelmann F, Laan M, Grigorova M, Punab M, Sober S & Gromoll J. (2012) Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters. J Clin Endocrinol Metab 97, 3639-3647.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 3639-3647
    • Tuttelmann, F.1    Laan, M.2    Grigorova, M.3    Punab, M.4    Sober, S.5    Gromoll, J.6
  • 24
    • 84455188556 scopus 로고    scopus 로고
    • MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis
    • Wei B, Xu Z, Ruan J, Zhu M, Jin K, Zhou D et al. (2012) MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis. Mol Biol Rep 39, 1997-2002.
    • (2012) Mol Biol Rep , vol.39 , pp. 1997-2002
    • Wei, B.1    Xu, Z.2    Ruan, J.3    Zhu, M.4    Jin, K.5    Zhou, D.6
  • 25
    • 84860768014 scopus 로고    scopus 로고
    • A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia
    • Zhao H, Xu J, Zhang H, Sun J, Sun Y, Wang Z et al. (2012) A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. Am J Hum Genet 90, 900-906.
    • (2012) Am J Hum Genet , vol.90 , pp. 900-906
    • Zhao, H.1    Xu, J.2    Zhang, H.3    Sun, J.4    Sun, Y.5    Wang, Z.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.