TY - JOUR
TI - Estrogen receptor alpha gene analysis in osteoporosis and familial
osteoporosis
AU - Fountas, L
AU - Anapliotou, M
AU - Kominakis, A
AU - Sekeris, CE
AU - Kassi,
AU - E
AU - Moutsatsou, P
JO - Osteoporosis International
PY - 2004
VL - 15
TODO - 12
SP - 948-956
PB - Springer-Verlag London Ltd
SN - 0937-941X, 1433-2965
TODO - 10.1007/s00198-004-1654-x
TODO - codon 10; codon 87; estrogen receptor; mutation; osteoporosis
TODO - Estrogens are important determinants of bone mineral density (BMD)
mediating their effects via estrogen receptor alpha (ERalpha) and beta
(ERbeta). The strong genetic predisposition to osteoporosis, and the
fact that alterations in the aminoterminal region of ERalpha have been
linked to bone disturbances, prompted us to identify genetic alterations
in exon 1 and exon 2 of ERalpha in osteoporotic individuals. Sixty-two
unrelated normal subjects (age 46.1 +/- 9.5 years) and 72 unrelated
osteoporotic subjects (age 52.3 +/- 7.9 years) were studied. Their
menopausal status was pre- and perimenopausal. We also included 30
related osteoporotic individuals (mother-daughter or sister-sister
relationship) (age 46.2 +/- 12.8 years) belonging to 14 families who
where also pre- and perimenopausal. DNA was extracted from peripheral
blood, exons 1 and 2 were amplified by polymerase chain reaction (PCR)
and were further submitted to denaturing gradient gel electrophoresis
(DGGE), single stranded conformational polymorphism (SSCP), restriction
fragment length polymorphism (RFLP) and sequence analysis. Bone turnover
markers were also determined. Two polymorphisms were identified in exon
1 (codons 10 and 87) in both normal and osteoporotic women. Statistical
analysis revealed no difference (P>0.05) in the ERalpha( genotype
frequencies within osteoporotic families as compared with the same
genotypes in the unrelated normal or osteoporotic subjects. Codon 10,
codon 87 polymorphisms were not related to BMD or bone turnover markers.
No other mutations were found in exons 1 and 2 in all subjects studied.
Genetic alterations in exons 1 and 2 of ERalpha are not associated to
osteoporosis and familial osteoporosis. Moreover, the codon 10 and codon
87 polymorphisms do not seem to be correlated with BMD and bone turnover
markers.
ER -