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- W4313238003 abstract "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: ANAPC1, CES1, FAM131C, HLA-DRB1, KMT2C, NOMO1, SAA1, SRGAP2, and SUSD2. Most of the SNPs residing in these genes imply amino acid exchanges that should only moderately affect protein functionality. In addition, proteins encoded by genes from present GWAS occupied peripheral positions in a protein–protein interaction network, the backbone of which consisted of genes listed in the Online Mendelian Inheritance in Man (OMIM) database for their implication in male infertility. Suggestive of an indirect impact on male fertility, the genes focused were indeed linked to each other, albeit mediated by other interactants. Thus, the chances of identifying a central player in male infertility by GWAS could be limited in general. Furthermore, the SNPs determined and the genes containing these might prove to have potential as biomarkers in the diagnosis of male fertility." @default.
- W4313238003 created "2023-01-06" @default.
- W4313238003 creator A5020502269 @default.
- W4313238003 creator A5044603411 @default.
- W4313238003 creator A5078907933 @default.
- W4313238003 date "2022-12-28" @default.
- W4313238003 modified "2023-10-18" @default.
- W4313238003 title "Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance" @default.
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- W4313238003 doi "https://doi.org/10.3390/ijms24010524" @default.
- W4313238003 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36613967" @default.
- W4313238003 hasPublicationYear "2022" @default.