English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Purpose Around 70% of infertile men are diagnosed with idiopathic (abnormal semen parameters) or unexplained (normozoospermia) infertility, with the common feature of lacking etiologic. Follicle stimulating hormone (FSH) is essential for initiation and maintenance of spermatogenesis. Certain single nucleotide polymorphisms (SNP) (i.e. FSHB c.-211G&amp;gt;T, FSHR c.2039A&amp;gt;G) are associated with FSH, testicular volume and spermatogenesis. It is unknown to which extent other variants are associated with FSH levels and therewith resemble causative factors for infertility. Methods We retrospectively (2010-2018) selected 1900 men with idiopathic/unexplained infertility. In the discovery study (n=760) a Genome wide association study (GWAS) was performed (Infinium PsychArrays®) with association to FSH values (Illumina®GenomeStudiov2.0). Minor allele frequencies (MAFs) were analyzed for the discovery – and an independent normozoospermic cohort. In the validation study (n=1140) TaqMan SNP-PCR was conducted for rs10031005 and rs10835638 with association to andrological parameters. Results Imputation revealed nine SNPs in high linkage disequilibrium, with genome-wide significance (p &amp;lt;4.28e-07) at the FSHB locus 11p.14.1 being associated with FSH. The nine SNPs accounted for up to 4.65% variance in FSH level. In the oligozoospermic subgroup this was increased up to 6.95% and the MAF was enhanced compared to an independent cohort of normozoospermic men. By validation significant association for rs110031005/rs10835638 with FSH (p=4.71e-06/5.55e-07) and FSH/LH ratio (p=2.08e-12/6.4e-12) was evident. Conclusions This GWAS delineates the polymorphic FSHB genomic region as main determinant for FSH levels in men with unexplained or idiopathic infertility. Given the essential role of FSH, molecular detection of one of the identified SNPs, that cause lowered FSH and therewith decreased spermatogenesis, could resolve the idiopathic/unexplained origin by this etiologic factor.

A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels