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Replicating a GWAS: two novel candidate markers for oligospermia in Greek population
dc.creator | Markantoni M., Sarafidou T., Kyrgiafini M.-A., Chatziparasidou A., Christoforidis N., Dafopoulos K., Mamuris Z. | en |
dc.date.accessioned | 2023-01-31T08:57:33Z | |
dc.date.available | 2023-01-31T08:57:33Z | |
dc.date.issued | 2021 | |
dc.identifier | 10.1007/s11033-021-06470-2 | |
dc.identifier.issn | 03014851 | |
dc.identifier.uri | http://hdl.handle.net/11615/76373 | |
dc.description.abstract | Genome-wide association studies have paved the way for the discovery of new markers regarding many diseases, including male infertility. A previous study on Caucasians highlighted 172 polymorphisms for their putative association with male infertility and we attempted to replicate these findings on our dataset comprising of Greek male individuals (n = 360). We retrieved 59 out of 172 polymorphisms and tested for all association models on 278 normospermic men and 82 patients with an abnormal seminogram, later separated into oligozoospermic and asthenozoospermic groups. Our findings indicate that two SNPs (rs2296225 in KIF17, rs7224496 in SMYD4) are associated with male infertility in the Greek population and have not been recorded in literature as of yet. These novel markers need further validation via additional studies and an increased individual number. All in all, replication studies, possess the power to validate existing polymorphisms found across all population and thus increase both statistical significance as well as identify novel potentially diagnostic markers. © 2021, The Author(s), under exclusive licence to Springer Nature B.V. | en |
dc.language.iso | en | en |
dc.source | Molecular Biology Reports | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85107537238&doi=10.1007%2fs11033-021-06470-2&partnerID=40&md5=c510bd037efbbaab0548f4231641715c | |
dc.subject | cyclic AMP responsive element modulator | en |
dc.subject | biological marker | en |
dc.subject | KIF17 protein, human | en |
dc.subject | methyltransferase | en |
dc.subject | adult | en |
dc.subject | Article | en |
dc.subject | asthenospermia | en |
dc.subject | blood sampling | en |
dc.subject | cell counting | en |
dc.subject | comparative genomic hybridization | en |
dc.subject | controlled study | en |
dc.subject | diagnostic procedure | en |
dc.subject | DNA content | en |
dc.subject | DNA extraction | en |
dc.subject | fertility preservation | en |
dc.subject | gene | en |
dc.subject | gene expression | en |
dc.subject | genetic association | en |
dc.subject | genetic heterogeneity | en |
dc.subject | genetic marker | en |
dc.subject | genetic polymorphism | en |
dc.subject | genetic susceptibility | en |
dc.subject | genome-wide association study | en |
dc.subject | genotype | en |
dc.subject | genotyping technique | en |
dc.subject | human | en |
dc.subject | KIF17 gene | en |
dc.subject | major clinical study | en |
dc.subject | male | en |
dc.subject | male fertility | en |
dc.subject | masturbation | en |
dc.subject | oligospermia | en |
dc.subject | phenotype | en |
dc.subject | quality control | en |
dc.subject | replication study | en |
dc.subject | risk factor | en |
dc.subject | semen analysis | en |
dc.subject | seminal plasma | en |
dc.subject | single nucleotide polymorphism | en |
dc.subject | SMYD4 gene | en |
dc.subject | spermatogenesis | en |
dc.subject | spermatozoon | en |
dc.subject | spermatozoon density | en |
dc.subject | spermatozoon motility | en |
dc.subject | spermiogram | en |
dc.subject | staining | en |
dc.subject | testis | en |
dc.subject | young adult | en |
dc.subject | Caucasian | en |
dc.subject | genetic predisposition | en |
dc.subject | genetics | en |
dc.subject | Greece | en |
dc.subject | male infertility | en |
dc.subject | middle aged | en |
dc.subject | oligospermia | en |
dc.subject | Adult | en |
dc.subject | Biomarkers | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Genome-Wide Association Study | en |
dc.subject | Greece | en |
dc.subject | Humans | en |
dc.subject | Infertility, Male | en |
dc.subject | Kinesins | en |
dc.subject | Male | en |
dc.subject | Methyltransferases | en |
dc.subject | Middle Aged | en |
dc.subject | Oligospermia | en |
dc.subject | Polymorphism, Single Nucleotide | en |
dc.subject | Whites | en |
dc.subject | Springer Science and Business Media B.V. | en |
dc.title | Replicating a GWAS: two novel candidate markers for oligospermia in Greek population | en |
dc.type | journalArticle | en |
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