CYP19 gene: a genetic modifier of polycystic ovary syndrome phenotype
Φόρτωση...
Ημερομηνία
Συγγραφείς
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Fertil Steril
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
OBJECTIVE: To evaluate the possible contribution of the (TTTA)n polymorphism of aromatase gene (CYP19) to the hyperandrogenic phenotype of polycystic ovary syndrome (PCOS). DESIGN: Case-control study. SETTING: Endocrine outpatients' clinic of a tertiary university hospital. PATIENT(S): One hundred eighty women with PCOS and 160 healthy controls of reproductive age. INTERVENTION(S): Blood sampling for genotype analysis, and measurement of androgens, E(2), LH, FSH, and fasting glucose and insulin. MAIN OUTCOME MEASURE(S): Frequency of the CYP19(TTTA)n polymorphism and association with hormone concentrations. RESULT(S): Women with PCOS tended to have more frequently short (TTTA)n alleles (with nine or fewer repeats) than healthy controls (33.1% vs. 29.5%), although the difference was not statistically significant. However, patients in the highest quartile for serum T were more frequently homozygous for short alleles compared with controls (59.1% vs. 42.1%) and patients in lower quartiles (59.1% vs. 36.9%). Furthermore, the patients homozygous for short alleles had higher T/E(2) ratios, higher T levels, and higher LH/FSH ratios compared with those with longer alleles. CONCLUSION(S): Although CYP19 may not be a major genetic determinant of PCOS, it may act as a genetic modifier of the hyperandrogenic phenotype of PCOS. The presence of short CYP19(TTTA)n alleles may contribute to prenatal androgenization programming the development of PCOS phenotype in adult life.
Περιγραφή
Λέξεις-κλειδιά
Adolescent, Adult, Alleles, Aromatase/*genetics, Case-Control Studies, Female, Gene Frequency, Genetic Markers/genetics, Humans, *Phenotype, Polycystic Ovary Syndrome/diagnosis/*enzymology/*genetics, Polymorphism, Genetic/genetics, Young Adult
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/19324338
http://ac.els-cdn.com/S0015028209002738/1-s2.0-S0015028209002738-main.pdf?_tid=b85cd36ad8f303e35998da2b1ec7636d&acdnat=1333347559_ad37e03912ad968614bdeb7a6582f526
http://ac.els-cdn.com/S0015028209002738/1-s2.0-S0015028209002738-main.pdf?_tid=b85cd36ad8f303e35998da2b1ec7636d&acdnat=1333347559_ad37e03912ad968614bdeb7a6582f526
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής