Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance.

Humans Male Genome-Wide Association Study Semen / metabolism Infertility, Male / genetics Fertility / genetics Spermatozoa Polymorphism, Single Nucleotide
disorder genome-wide association study male infertility polymorphism spermatogenesis spermiogenesis

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
28 Dec 2022
Historique:
received: 04 11 2022
revised: 21 12 2022
accepted: 24 12 2022
entrez: 8 1 2023
pubmed: 9 1 2023
medline: 11 1 2023
Statut: epublish

Résumé

Deciphering the functional relationships of genes resulting from genome-wide screens for polymorphisms that are associated with phenotypic variations can be challenging. However, given the common association with certain phenotypes, a functional link should exist. We have tested this prediction in newly sequenced exomes of altogether 100 men representing different states of fertility. Fertile subjects presented with normal semen parameters and had naturally fathered offspring. In contrast, infertile probands were involuntarily childless and had reduced sperm quantity and quality. Genome-wide association study (GWAS) linked twelve non-synonymous single-nucleotide polymorphisms (SNPs) to fertility variation between both cohorts. The SNPs localized to nine genes for which previous evidence is in line with a role in male fertility maintenance:

Identifiants

DOI: 10.3390/ijms24010524 PMID: 36613967 PMC: PMC9820667
pubmed: 36613967
pii: ijms24010524
doi: 10.3390/ijms24010524
pmc: PMC9820667
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Thomas Greither (T)

Center for Reproductive Medicine and Andrology, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany.
ORCID: 0000-0002-1888-7813

Hermann M Behre (HM)

Center for Reproductive Medicine and Andrology, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany.

Holger Herlyn (H)

Anthropology, Institute of Organismic and Molecular Evolution (iomE), Johannes Gutenberg University Mainz, 55099 Mainz, Germany.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genome-Wide Association Screening Determines...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Genome-Wide Association Screening Determines...
questionsmedicales.fr › Liquides et sécrétions biologiques › Sécrétions corporelles › Sperme › Genome-Wide Association Screening Determines...
questionsmedicales.fr › Maladies urogénitales › Maladies urogénitales de l'homme › Maladies de l'appareil génital mâle › Infertilité masculine › Genome-Wide Association Screening Determines...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Fécondité › Genome-Wide Association Screening Determines...
questionsmedicales.fr › Cellules › Cellules germinales › Spermatozoïdes › Genome-Wide Association Screening Determines...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genome-Wide Association Screening Determines...