Literature DB >> 27357427

A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men.

Youichi Sato1, Atsushi Tajima2,3, Motoki Katsurayama1, Shiari Nozawa4, Miki Yoshiike4, Eitetsue Koh5, Jiro Kanaya5, Mikio Namiki5, Kiyomi Matsumiya6, Akira Tsujimura7, Kiyoshi Komatsu8, Naoki Itoh9, Jiro Eguchi10, Issei Imoto2, Aiko Yamauchi1, Teruaki Iwamoto4,11.   

Abstract

In men, follicle-stimulating hormone (FSH) acts on the seminiferous tubules and enhances spermatogenesis. Recently, a candidate locus (rs2414095) for FSH levels was identified by a genome-wide association study (GWAS) in Chinese men. The rs2414095 single-nucleotide polymorphism (SNP) is found on the third intron of the cytochrome P450, family 19, subfamily A, peptide 1 (CYP19A1) gene encoding an aromatase. In the present study, we performed a replication study in 1687 Japanese men (901 from cohort 1 and 786 from cohort 2) to assess whether this SNP is associated with circulating FSH levels. Furthermore, we investigated whether the rs2414095 SNP is correlated with semen quality traits in 2015 Japanese men (1224 from cohort 1 and 791 from cohort 2). The rs2414095 SNP was significantly associated with circulating FSH levels (βSTD=0.15, P=9.7 × 10-5), sperm concentration (βSTD=0.073, P=0.032) and total sperm number (TSN) (βSTD=0.074, P=0.027) in a combined analysis of the two Japanese male cohorts. We successfully replicated, in Japanese men, the results of the previous GWAS for the rs2414095 SNP in Chinese men, and found that the rs2414095 SNP was related with sperm production.

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Year:  2016        PMID: 27357427     DOI: 10.1038/jhg.2016.82

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  39 in total

1.  Successful use of aromatase inhibitor letrozole in NOA with an elevated FSH level: a case report.

Authors:  D Zhao; L Pan; F Zhang; F Pan; J Ma; X Zhang; Y Liu
Journal:  Andrologia       Date:  2013-06-26       Impact factor: 2.775

Review 2.  Regulation of spermatogenesis: an evolutionary biologist's perspective.

Authors:  Stefan Schlatt; Jens Ehmcke
Journal:  Semin Cell Dev Biol       Date:  2014-03-28       Impact factor: 7.727

3.  Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.

Authors:  P E Mullis; N Yoshimura; B Kuhlmann; K Lippuner; P Jaeger; H Harada
Journal:  J Clin Endocrinol Metab       Date:  1997-06       Impact factor: 5.958

4.  A specific aromatase inhibitor and potential increase in adult height in boys with delayed puberty: a randomised controlled trial.

Authors:  S Wickman; I Sipilä; C Ankarberg-Lindgren; E Norjavaara; L Dunkel
Journal:  Lancet       Date:  2001-06-02       Impact factor: 79.321

5.  Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.

Authors:  Annik Hauri-Hohl; Monika Meyer-Böni; Mariarosaria Lang-Muritano; Mathias Hauri-Hohl; Eugen J Schoenle; Anna Biason-Lauber
Journal:  Clin Endocrinol (Oxf)       Date:  2011-07       Impact factor: 3.478

6.  Heritability of reproductive hormones in adult male twins.

Authors:  E A M Kuijper; C B Lambalk; D I Boomsma; S van der Sluis; M A Blankenstein; E J C de Geus; D Posthuma
Journal:  Hum Reprod       Date:  2007-06-13       Impact factor: 6.918

7.  Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

Authors:  Y Ito; C R Fisher; F A Conte; M M Grumbach; E R Simpson
Journal:  Proc Natl Acad Sci U S A       Date:  1993-12-15       Impact factor: 11.205

8.  Y chromosome haplogroup d2* lineage is associated with azoospermia in Japanese males.

Authors:  Youichi Sato; Toshikatsu Shinka; Teruaki Iwamoto; Aiko Yamauchi; Yutaka Nakahori
Journal:  Biol Reprod       Date:  2013-04-25       Impact factor: 4.285

9.  Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.

Authors:  Nadia Bouchoucha; Dinane Samara-Boustani; Amit V Pandey; Helene Bony-Trifunovic; Gaby Hofer; Yves Aigrain; Michel Polak; Christa E Flück
Journal:  Mol Cell Endocrinol       Date:  2014-04-04       Impact factor: 4.102

10.  Effect of luteinizing hormone on follicle stimulating hormone-activated paracrine signalling in rat ovary.

Authors:  C D Smyth; F Miró; C M Howles; S G Hillier
Journal:  Hum Reprod       Date:  1995-01       Impact factor: 6.918

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  2 in total

1.  Association of TUSC1 and DPF3 gene polymorphisms with male infertility.

Authors:  Youichi Sato; Chise Hasegawa; Atsushi Tajima; Shiari Nozawa; Miki Yoshiike; Eitetsue Koh; Jiro Kanaya; Mikio Namiki; Kiyomi Matsumiya; Akira Tsujimura; Kiyoshi Komatsu; Naoki Itoh; Jiro Eguchi; Aiko Yamauchi; Teruaki Iwamoto
Journal:  J Assist Reprod Genet       Date:  2017-10-03       Impact factor: 3.412

2.  Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men.

Authors:  Youichi Sato; Atsushi Tajima; Takehiro Sato; Shiari Nozawa; Miki Yoshiike; Issei Imoto; Aiko Yamauchi; Teruaki Iwamoto
Journal:  J Med Genet       Date:  2018-02-16       Impact factor: 6.318

  2 in total

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