Detection of rs11932595 CLOCK gene polymorphism in women with Recurrent Pregnancy Loss (RPL)

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Κατεύθυνση Αναπαραγωγική-Αναγεννητική Ιατρική
Library of the School of Health Sciences
Deposit date:
Pandi Eleni
Supervisors info:
Δρακάκης Πέτρος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ντόμαλη Αικατερίνη, Επίκουρος Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μαυρογιάννη Δέσποινα, ΕΔΙΠ, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Μελετη συσχετισης του πολυμορφισμου Rs11932595 του γονιδιου Clock στις γυναικες με καθ΄εξιν αποβολες
Translated title:
Detection of rs11932595 CLOCK gene polymorphism in women with Recurrent Pregnancy Loss (RPL)
Clock gene constitutes the main component of the circadian rhythm mechanism. Circadian rhythms are controlled by an endogenous oscillator, consisted of genetic network which functions as a transcriptional feedback loop. The CLOCK gene is the key gene in this network and is an essential activator of downstream pathways. Polymorphisms in the CLOCK gene have been already described and associated with reproductive abnormalities.Therefore, we aimed to evaluate whether the Clock gene Polymorphism rs11932595 is associated with recurrent pregnancy loss in women within the Greek population.
A case-control study consisting of 57 women with a history of two or more recurrent miscarriages before the 24th week of gestation and 61 women with no history of pathological pregnancies and at least one live birth was conducted. DNA was extracted from blood and in all samples the genomic region of CLOCK containing the rs11932595 polymorphism was amplified by applying the Polymerase Chain Reaction (PCR). Subsequently, the PCR product was sequenced, in order to detect the specific polymorphism.
The results have indicated that 50 out of 57 women of the RPL group (87.7%) and 41 out of 61 women in control group (67.2) carry the polymorphic allele. Evaluation of the results showed that there is a statistically significant positive correlation between the presence of the polymorphism and the medical history of RPL.
This particular study, carried out for the first time in the Greek population, verifies the results of recent studies which have indicated that the CLOCK gene rs11932595 SNP is related with the presence of recurrent abortions. A possible correlation of polymorphisms present in CLOCK gene and miscarriages may lead to a better understanding of the recurrent pregnancy loss mechanism
Main subject category:
Health Sciences
Clock gene, Polymorphisms,Recurrent Pregnancy Loss
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