title: Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.
abstract: We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). FRAXA premutation was found in one woman with familial POF. A significant association of familial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed. Our preliminary data suggest a potential role of the estrogen receptor in POF, and it may influence the variable age of menopause of the FRAXA premutation carriers.
authors.affiliation: Laboratory of General Biology, Medical School, University of Ioannina, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Syrrou
authors.forename: I
authors.initials: I
authors.lastname: Georgiou
authors.forename: P C
authors.initials: PC
authors.lastname: Patsalis
authors.forename: I
authors.initials: I
authors.lastname: Bouba
authors.forename: G
authors.initials: G
authors.lastname: Adonakis
authors.forename: G N
authors.initials: GN
authors.lastname: Pagoulatos
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010049:Ovarian Diseases / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011960:Receptors, Estrogen / Q000235:genetics*
chemical_list: D011960:Receptors, Estrogen