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10.1371/journal.pone.0094244
Title: | Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants : FSHR -29G/A and c.2039 A/G, FSHB -211G/T |
Authors: | Grigorova, Marina Punab, Margus Punab, Anna Maria Poolamets, Olev Vihljajev, Vladimir Žilaitiene, Birute Erenpreiss, Juris Matulevičius, Valentinas Laan, Maris Scientific Laboratory of Molecular Genetics |
Keywords: | 1.6 Biological sciences;3.1 Basic medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;General Biochemistry,Genetics and Molecular Biology;General Agricultural and Biological Sciences;General |
Issue Date: | 9-Apr-2014 |
Citation: | Grigorova , M , Punab , M , Punab , A M , Poolamets , O , Vihljajev , V , Žilaitiene , B , Erenpreiss , J , Matulevičius , V & Laan , M 2014 , ' Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants : FSHR -29G/A and c.2039 A/G, FSHB -211G/T ' , PLoS ONE , vol. 9 , no. 4 , e94244 . https://doi.org/10.1371/journal.pone.0094244 |
Abstract: | Follicle-Stimulating Hormone Receptor (FSHR) -29G/A polymorphism (rs1394205) was reported to modulate gene expression and reproductive parameters in women, but data in men is limited. We aimed to bring evidence to the effect of FSHR -29G/A variants in men. In Baltic young male cohort (n = 982; Estonians, Latvians, Lithuanians; aged -0.2±2.0 years), the FSHR -29 A-allele was significantly associated with higher serum FSH (linear regression: effect 0.27 IU/L; P = 0.0019, resistant to Bonferroni correction for multiple testing) and showed a non-significant trend for association with higher LH (0.19 IU/L) and total testosterone (0.93 nmol/L), but reduced Inhibin B (-7.84 pg/mL) and total testes volume (effect -1.00 mL). Next, we extended the study and tested the effect of FSHR gene haplotypes determined by the allelic combination of FSHR -29G/A and a well-studied variant c.2039 A/G (Asn680Ser, exon 10). Among the FSHR -29A/2039G haplotype carriers (A-Ser; haplotype-based linear regression), this genetic effect was enhanced for FSH (effect 0.40 IU/L), Inhibin B (-16.57 pg/mL) and total testes volume (-2.34 mL). Finally, we estimated the total contribution of three known FSH-action modulating SNPs ( FSHB -211G/T; FSHR -29G/A, c.2039 A/G) to phenotypic variance in reproductive parameters among young men. The major FSH-action modulating SNPs explained together 2.3%, 1.4%, 1.0 and 1.1% of the measured variance in serum FSH, Inhibin B, testosterone and total testes volume, respectively. In contrast to the young male cohort, neither FSHR -29G/A nor FSHR haplotypes appeared to systematically modulate the reproductive physiology of oligozoospermic idiopathic infertile patients (n = 641, Estonians; aged 31.5±6.0 years). In summary, this is the first study showing the significant effect of FSHR -29G/A on male serum FSH level. To account for the genetic effect of known common polymorphisms modulating FSH-action, we suggest haplotype-based analysis of FSHR SNPs (FSHR -29G/A, c.2039 A/G) in combination with FSHB -211G/T testing. |
DOI: | 10.1371/journal.pone.0094244 |
ISSN: | 1932-6203 |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
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