The association of the FOXE1 gene with the occurrence of Premature Ovarian Insufficiency (POI)

Postgraduate Thesis uoadl:2928535 151 Read counter

Unit:
Κατεύθυνση Αναπαραγωγική-Αναγεννητική Ιατρική
Library of the School of Health Sciences
Deposit date:
2020-11-18
Year:
2020
Author:
Kalampalikis Andreas
Supervisors info:
Μιχαλά Σταυρούλα, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Δρακάκης Πέτρος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μαυρογιάννη Δέσποινα, Εργαστηριακό Διδακτικό Προσωπικό, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Η συσχέτιση του γονιδίου FOXE1 με την εμφάνιση Πρόωρης Ωοθηκικής Ανεπάρκειας (ΠΩΑ)
Languages:
Greek
Translated title:
The association of the FOXE1 gene with the occurrence of Premature Ovarian Insufficiency (POI)
Summary:
Premature Ovarian Insufficiency (POI) is defined as the cessation of ovarian function before the age of 40. It affects approximately 1% of the female population. The causes of POI are numerous and vary among women. They include chromosomal aberrations, genetic diseases, infections, iatrogenic causes, and environmental factors. The present study aimed to investigate the relationship between the length of the poly-alanine (poly-A) tract of the various polymorphisms of the FOXE1 gene and the occurrence of POI.
For this purpose, peripheral blood was collected from 28 women with POI and 30 healthy women (control group), after obtaining written consent. From the blood, we isolated the whole genome and then we performed polymerase chain reaction (PCR) to amplify our target, the FOXE1 gene. The PCR product was then sequenced and the genotypes of the patients and the control group were recorded.
The mean age of the patients was 31.68 years and the mean age at diagnosis of POI was 25.18 years. Out of 28 patients, 9 women (32.14%) had a family history of POI, while 5 had other pathologies not related to POI (17.86%). We detected 5 polymorphisms of the FOXE1 gene, with 8, 12, 14, 16, and 17 alanine residues. Six different genotypes 14/14, 14/16, 16/16, 14/17, 8/16, and 12/14 were identified. The allele with the 8 residues occurred only in the group of patients, while the allele with the 12 residues occurred only in the control group. The most common genotype in both populations was 14/16 (64.29% in patients and 53.33% in healthy people). No statistically significant difference was observed in the frequency of occurrence of the allele with 14 (p-value: 0.491) and 16 (p-value: 0.389) residues. We observed no statistically significant difference in the frequency of occurrence of the different genotypes among the two groups (p-value: 0.397).
In the present study, we found that the correlation between the number of alanine residues in the FOXE1 gene and the occurrence of POI was not statistically significant.
Main subject category:
Health Sciences
Keywords:
Premature Ovarian Insufficiency, FOXE1, POI, Gene, Polyalanine tract
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
86
Number of pages:
70
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