[Association of Xba I, Pvu II, and Bst U I polymorphisms of estrogen receptor-alpha gene with bone mass in men].
OBJECTIVE
To investigate the association of polymorphism in estrogen receptor-alpha (ER-alpha ) gene with bone mineral density(BMD) in men.


METHODS
The ER-alpha Xba I, Pvu II and Bst UI genotypes were determined by PCR-restriction fragment length polymorphism (RFLP) in 388 unrelated healthy men who were 46-80 years old and were of Han nationalities in Shanghai city. Bone mineral densities (BMD, g/cm(2)) at lumbar spines 1-4 (L(1-4)) and at any sites of proximal femur, including femoral neck (Neck), trochanter (Troch) and Ward's triangle (Ward's) were measured by duel-energy X-ray absorptiometry.


RESULTS
The frequencies distribution of Xba I and Pvu II alleles and genotypes in this cohort all followed the Hardy-Weinberg equilibrium. No Bst UI polymorphic site in ER-alpha gene was found in total samples. All subjects were of BB genotype. No significant association was found between Xba I genotype and BMD at any skeleton sites. The significant association was found between Pvu II genotype and BMD at L(1-4) and Ward's triangle site (P< 0.05). Compared against men with PP and pp genotype, men with Pp genotype had significantly higher mean BMD at L(1-4) and Ward's triangle site (P< 0.05).


CONCLUSIONS
This study suggests that Bst UI polymorphism in ER-alpha gene may be absent or rare in Chinese Han population. Pvu II polymorphism possibly influences the loss of trabecular bone mass in old men.
Zhang
Zhen-lin
ZL
Center for Preventing and Treating Osteoporosis, Osteoporosis Research Unit, Affiliated Sixth People Hospital, Shanghai Jiaotong University, Shanghai, 200233 PR China. ZZL2002@medmail.com.cn
Qin
Yue-juan
YJ
He
Jin-wei
JW
Huang
Qi-ren
QR
Hu
Yun-qiu
YQ
Li
Miao
M
Liu
Yu-juan
YJ
Zhang
Hao
H
D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D015519:Bone Density / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D047628:Estrogen Receptor alpha