dc.contributor.advisor | Bilbao Catalá, José Ramón ![ORCID](/themes/Mirage2//images/orcid_16x16.png) | |
dc.contributor.advisor | Fernández Jiménez, Nora ![ORCID](/themes/Mirage2//images/orcid_16x16.png) | |
dc.contributor.author | Garitazelaia González Aiara | |
dc.contributor.other | F. MEDICINA Y ODONTOLOGIA | |
dc.contributor.other | MEDIKUNTZA ETA ODONTOLOGIA F. | |
dc.date.accessioned | 2021-12-21T14:41:40Z | |
dc.date.available | 2021-12-21T14:41:40Z | |
dc.date.issued | 2021-12-21 | |
dc.identifier.uri | http://hdl.handle.net/10810/54591 | |
dc.description.abstract | [EU]Endometriosia kausa ezezaguneko gaitz kroniko eta multisistemikoa da, funtzionala den endometrio-ehuna utero-barrunbetik kanpo haztean agertzen dena, besteak beste pelbiseko mina eta antzutasuna eraginez. Ugaltze-adinean dauden emakumeen %10ak pairatzen duela balioetsi da, hauengan ondoez fisiko, mental, sexual, sozial eta ekonomikoa baldintzatzen duelarik. Eritasuna, aurkezpen konplexu eta heterogeneoa duen aldetik, fenotipo ugarirekin erlazionatu da, hala nola neurri antropometriko eta ezaugarri menstrual ezberdinekin. Hala ere, azken horiek eta endometriosiak oinarri genetiko bera partekatzen ote duten ez da oraindik ezagutzen. Genetika amankomun hau aztertzeko, bi lagineko ausazkotze mendeldar (2SMR) analisia burutu genuen, GWAS ikerketetako datu publikoak erabiliz. GWASek endometriosia eta berarekin asoziazioa erakutsi duten fenotipoak bezalako ezaugarri eta gaixotasun konplexuak ikertzeko aukera ematen dute, ezaugarriok edukitzeko joera handitzen duten aldaera genetikoak identifikatzen baitituzte. Gure 2SMR analisia burutzeko, hainbat ezaugarri antropometriko (pisua, garaiera, gorputz-masa indizea, gerri-aldaka indizea) eta menstrual (menarkia eta menopausiaren adinak, hilekoaren ziklo-luzera eta hileko-fluxuaren kantitate eta iraupena) aukeratu genuen, bakoitzak endometriosiarekin izan zezakeen lotura genetikoa ezagutzeko. Gure emaitzen arabera, pisu baxuak eta hilekoaren ziklo laburrek endometriosiarekin harreman genetikoa dute. Are gehiago, badirudi erlazioa kausala izan litekeela. Era berean, asoziazio hori bultzatzen duten zenbait aldaera genetiko identifikatzea lortu genuen. Aurkitutako ebidentzia horri esker endometriosiaren oinarria ulertzeko gertuago gaude. | es_ES |
dc.description.abstract | [EN]Endometriosis, the cause of which is unknown, is a chronic and multisystemic disease, characterized by the presence of functionally active endometrial tissue outside the womb, causing pelvic pain and infertility among others. The illness approximately affects 10% of reproductive age women and compromises physical, mental, sexual, social and economic well-being of those who suffer from it. This condition, known to have a complex and heterogeneous presentation, has been associated with many phenotypes, such as anthropometric and menstrual traits. However, whether these traits and endometriosis share common genetic roots is still undetermined. To investigate this, we performed a two-sample mendelian randomization (2SMR) analysis, using public data from GWAS studies. GWASs allow the study of complex traits and diseases like endometriosis and those phenotypes associated to it, given that they identify genetic variants that increase the susceptibility to develop them. For our 2SMR analysis, we chose several anthropometric (weight, height, body-mass index, waist-to-hip ratio) and menstrual traits (ages of menarche and menopause, menstrual cycle´s length, menstrual flow´s quantity and duration), in order to know whether they had a genetic relation with endometriosis or not. Our results showed a genetic link between low weight and short menstrual cycles and endometriosis. Furthermore, it seems that this relationship could be causal. Moreover, we were able to identify some genetic variants driving this association. Thanks to the aforementioned information we are now closer to understanding the basis of endometriosis. | es_ES |
dc.language.iso | eus | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | |
dc.subject | endometriosia | es_ES |
dc.subject | ausazkotze mendeldarra | es_ES |
dc.subject | SNP | es_ES |
dc.subject | ezaugarri antropometrikoak | es_ES |
dc.subject | ezaugarri menstrualak | es_ES |
dc.subject | mendelian randomization | |
dc.subject | anthropometric traits | |
dc.subject | menstrual traits | |
dc.title | Endometriosia eta ezaugarri antropometriko eta menstrualak: erlazio genetiko kausalen bila : bi lagineko ausazkotze mendeldar analisia | es_ES |
dc.type | info:eu-repo/semantics/bachelorThesis | |
dc.date.updated | 2021-04-19T11:59:39Z | |
dc.language.rfc3066 | es | |
dc.rights.holder | Atribución-NoComercial-SinDerivadas (cc by-nc-nd) | |
dc.contributor.degree | Grado en Medicina;;Medikuntzako Gradua | es_ES |
dc.identifier.gaurassign | 109828-801878 | |