Unit:
Faculty of MedicineLibrary of the School of Health Sciences
Dissertation committee:
Μαρία Γαζούλη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ιωάννης Βασιλείου, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Μαστοράκος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ειρήνη Λαμπρινουδάκη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ευανθία Κασσή, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Νικόλαος Δάφνιος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Άννα Αγγελούση, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Διερεύνηση γενετικών βιοδεικτών για τη διάκριση αδενώματος και υπερπλασίας στον σποραδικό πρωτοπαθή υπερπαραθυρεοειδισμό: μελέτη πολυμορφισμών microRNAs
Translated title:
The role of genetic biomarkers in the investigation of adenomas and multiple gland disease in sporadic primary hyperparathyroidism: study of microRNAs
Summary:
Background/aim:Almost 15% of patients with sporadic primary hyperparathyroidism (sPHPT) present with multiple gland disease (MGD). To date, there is no reliable method to diagnose MGD preoperatively. The aim of this study was to investigate the potential role of
two polymorphisms of the hsa-miR-30e in sPHPT tumorigenesis and the possible use of hsa- miR-30e as a biomarker for early diagnosis of MGD.
Patients and methods: One-hundred twenty sPHPT patients, 77 presenting a single adenoma and 43 with MGD, and 54 healthy controls were genotyped. The SNPs were identified using the allele-specific PCR methodology, while the hsa-miR-30e expression was analyzed by real-time quantitative reverse transcriptase PCR.
Results: Hsa-miR-30e expression was found to be significantly higher in patients with MGD compared to patients with single adenomas (p=0.0019), but no differences were found regarding specific genotype carriers. The genotype frequencies for ss178077483 and rs7556088 were significantly different between patients and healthy controls.
Conclusion: Although the polymorphisms cannot be used as biomarkers for the differential diagnosis of MGD, hsa-miR-30e expression could potentially serve as a biomarker for this purpose.
Main subject category:
Health Sciences
Keywords:
Sporadic primary hyperparathyroidism, Αdenoma, microRNA, Μultiple gland disease
Number of references:
285
File:
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PhD_Thesis_Mizamtsidi_Maria.pdf
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