Unit:
Κατεύθυνση Αναπαραγωγική-Αναγεννητική ΙατρικήLibrary of the School of Health Sciences
Author:
Batsaki Panagiota
Supervisors info:
Πέτρος Δρακάκης, Καθηγητής, Τμήμα Ιατρικής, Ε.Κ.Π.Α., Επιβλέπων
Δέσποινα Μαυρογιάννη, ΕΔΙΠ, Τμήμα Ιατρικής, Ε.Κ.Π.Α.
Αικατερίνη Ντόμαλη, Επίκουρη Καθηγήτρια, Τμήμα Ιατρικής, ΕΚΠΑ
Original Title:
Μελέτη συσχέτισης του πολυμορφισμού rs1801260 του γονιδίου CLOCK με την ποιότητα του σπέρματος
Translated title:
Association of CLOCK gene rs1801260 with semen quality
Summary:
According to the World Health Organization (WHO), infertility is defined as the failure of a couple to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse. Fertility problems are quite common and a significant number of couples, about 15-20% faces conception problems. The male factor contributes to infertility in about 40% of the couples. It is known that about 7% of the male population has fertility problems. The decreased sperm production and function may be due to different causes such as cognate or acquired factors that act at a pre-testicular, post-testicular level or directly to the testicles. There are also important genetic factors that are involved in male infertility, such as chromosomal abnormalities or monogenic disorders. In addition, some multifactorial diseases and endocrine disorders may be associated with male infertility. However, a large percentage (30-40%) of the causes of male infertility remains unknown (Idiopathic male infertility).
Clock gene is the main regulator of circadian rhythms. Recent studies have shown that the gene is expressed in mammalian testicles and mutations in this genetic locus affect testicular function, causing sterility. It is also indicated than Clock gene single noucleotide polymorphisms (SNPs) are related to human semen quality and thus have an effect on reproductive capacity.
We hypothesized that the presence of specific genetic variants in sperm cells could predict fertility problems in the Greek population. The aim of this study is to examine whether the rs1801260 Clock variant is associated with semen quality.
For each semen sample, semen analysis was performed according to WHO guidelines. DNA was isolated from spermatozoa and for the SNP detection, genotyping was applied, using real-time PCR. The results indicate that the SNP carries have significantly higher progressive motility, compared with the subjects carrying wild type allele in homozygosity (P=0,002, at 95% CI). As for sperm motility, SNP carriers show a higher rate of normal motility, compared with wild type genotype carriers. Sperm concentration is not significantly different between the two groups.
To sum up to the above, the results suggest a possible positive correlation of the SNP and progressive motility of spermatozoa. The results of this study would be markedly strengthened by a larger study group and the addition of an analysis of the hormonal profile of the men.
Main subject category:
Health Sciences
Keywords:
CLOCK gene, SNP, Polymorphism, Male infertility
Number of references:
127
