Ehlers?Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study

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dc.authoridDoganlar, Zeynep Banu/0000-0002-1365-9897
dc.authoridTuna, Filiz/0000-0002-9563-8028
dc.authoridDoganlar, Oguzhan/0000-0003-2654-7269
dc.authoridOzdemir, Hande/0000-0002-1717-9604
dc.authoridDemirbag Kabayel, Derya/0000-0003-1974-8054
dc.authorwosidDoğanlar, Oğuzhan/A-2315-2019
dc.authorwosidtuna, filiz/ABD-4110-2020
dc.authorwosidDoganlar, Zeynep Banu/B-4845-2008
dc.authorwosidKABAYEL, Derya DEMIRBAG/AAB-3712-2021
dc.contributor.authorTuna, Filiz
dc.contributor.authorDoganlar, Zeynep Banu
dc.contributor.authorOzdemir, Hande
dc.contributor.authorKabayel, Derya Demirbag
dc.contributor.authorDoganlar, Oguzhan
dc.date.accessioned2024-06-12T11:02:33Z
dc.date.available2024-06-12T11:02:33Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractAim of the study: Generalized joint hypermobility (GJH) is a common feature of almost all Ehlers?Danlos syndrome (EDS) types; however, its genetic basis remains unclear. Therefore, it is crucial to distinguish the genetic basis of GJH from other connective tissue disorders, including the different subtypes of EDS. The aim of this study was to determine the blood EDS-related gene expressions and serum element levels in GJH and reveal their predictive characteristics and correlations with the Beighton score. Materials and Methods: A total of 39 women aged 18?23?years with GJH and 38 age- and sex-matched controls were included in the study. Inductively coupled plasma mass spectrometry was used to analyze the serum levels of zinc (Zn), strontium (Sr), and lithium (Li). The relative expression levels of the EDS-related genes were determined using quantitative real-time polymerase chain reaction (PCR). Results: Our results showed that women with GJH possessed significantly lower Li and higher Zn and Sr levels than the controls. In addition, the gene expressions of TNXB and SLC39A13 were significantly higher, whereas those of COL1A1, COL1A2, COL5A1, FKBP14, and DSE were lower in the GJH group. Pearson correlation analyses revealed a strong negative correlation between the Beighton score and B4GALT7, FKBP14, COL1A1, and Li. However, a significant positive correlation was noted between the Beighton score and SLC39A13, TNXB, Zn, Sr, and B3GALT6. Conclusion: Our findings provide valuable basal levels for conducting gene function analysis of joint hypermobility-related connective tissue disorders.en_US
dc.description.sponsorshipTrakya University Research Project Foundation [TUBAP-2017/08]en_US
dc.description.sponsorshipThis work was supported by the the Trakya University Research Project Foundation [Project Number: TUBAP-2017/08];en_US
dc.identifier.doi10.1080/03008207.2019.1675648
dc.identifier.endpage225en_US
dc.identifier.issn0300-8207
dc.identifier.issn1607-8438
dc.identifier.issue2en_US
dc.identifier.pmid31594391en_US
dc.identifier.scopus2-s2.0-85075486987en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage215en_US
dc.identifier.urihttps://doi.org/10.1080/03008207.2019.1675648
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21331
dc.identifier.volume62en_US
dc.identifier.wosWOS:000490808700001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Incen_US
dc.relation.ispartofConnective Tissue Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGenetic Basisen_US
dc.subjectJoint Hypermobilityen_US
dc.subjectLithiumen_US
dc.subjectStrontiumen_US
dc.subjectZincen_US
dc.subjectDanlos-Syndromeen_US
dc.subjectTenascin-Xen_US
dc.subjectConnective-Tissueen_US
dc.subjectDermatan Sulfateen_US
dc.subjectMutationsen_US
dc.subjectFormen_US
dc.subjectClassificationen_US
dc.subjectPrevalenceen_US
dc.subjectDeficiencyen_US
dc.subjectCollagenen_US
dc.titleEhlers?Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control studyen_US
dc.typeArticleen_US

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