Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure

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dc.contributor.authorKaraca, Yasemin
dc.contributor.authorPariltay, Erhan
dc.contributor.authorMardan, Lamiya
dc.contributor.authorKaraca, Emin
dc.contributor.authorDurmaz, Asude
dc.contributor.authorDurmaz, Burak
dc.contributor.authorCogulu, Ozgur
dc.date.accessioned2020-12-01T12:02:06Z
dc.date.available2020-12-01T12:02:06Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractAlthough the polymorphic heterochromatin regions of chromosomes (heteromorphisms) have been extensively studied for their phenotypic effects on humans, co-occurrences of chromosome 1, 9, 16 and Y heteromorphisms and of acrocentric variants have never been studied on humans with an objective scoring system. Here we compared the frequencies of individual heteromorphisms on a total of 602, 768 and 224 patients with the indications of infertility, recurrent miscarriage and in vitro fertilization (IVF) failure, respectively and on 272 controls. Then we examined whether there were significant co-occurrences between heteromorphisms within and between the groups. There were no statistically significant differences in the frequencies of heteromorphisms between the groups. Both statistically significant and non-significant correlations were observed within the non-acrocentric and certain acrocentric heteromorphisms in each group. When these co-occurrences were examined between the groups, a 2.2 fold increased risk of IVF failure in males in the presence of either chromosome 13 or chromosome 21 variants was observed (95 %CI:1.1-4.2). We conclude that the simultaneous manifestations of heteromorphisms have no effect on reproductive failure. There seems to be a correlation between the non-acrocentric heteromorphisms (1qh + , 9qh + , 16qh + and Yqh + /-), which might be the result of complex interactions of formation of these heterochromatin regions. the correlations observed between certain acrocentric chromosomes might be related to satellite association and nucleolus formation. the increased risk observed in males with IVF failure in the presence of either chromosome 13 or 21 variants should be interpreted cautiously due to the heterogeneity of the group.en_US
dc.identifier.doi10.1016/j.repbio.2019.12.006en_US
dc.identifier.endpage47en_US
dc.identifier.issn1642-431X
dc.identifier.issue1en_US
dc.identifier.pmid31899132en_US
dc.identifier.scopus2-s2.0-85077154050en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage42en_US
dc.identifier.urihttps://doi.org/10.1016/j.repbio.2019.12.006
dc.identifier.urihttps://hdl.handle.net/11454/62590
dc.identifier.volume20en_US
dc.identifier.wosWOS:000554611300008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherInst Animal Reproduction Food Researchen_US
dc.relation.ispartofReproductive Biologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHeteromorphismen_US
dc.subjectChromosomeen_US
dc.subjectInfertilityen_US
dc.subjectRecurrent miscarriageen_US
dc.subjectRecurrent implantation failureen_US
dc.titleCo-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failureen_US
dc.typeArticleen_US

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