J Korean Soc Endocrinol.  1997 Jun;12(2):207-214.

Non-association of Pvull and Xval Estrogen receptor Genotypes with Bone Mineral Density and Bone Markers in Korean Premenopausal Women

• Yoon HK
• Chung HY
• Moon IG
• Yim CH
• Kim SW
• Han KO
• Han IK
• Min HK
• Suh DW
• Cho DH
• Park BK
• Choi JT

Abstract

BACKGROUND
Bone mineral density (BMD) is under strong genetic control. A recently reported case of severe estrogen resistance caused by a germ-line mutation at the estrogen receptor gene locus suggests the possibility that other variants of the estrogen receptor (ER) gene could be responsible for the heritable components of bone density.
METHODS
Two restriction fragment length polymorphisms (RFLPs) at the ER gene locus, represented as PvuII and XbaI, and their relationship to bone mineral density (BMD) and bone turnover markers were examined in 95 healthy premenopausal women. Their mean age was 29 +-6.9 years (mean+-SD).
RESULTS
The distribution of the PvuII and XbaI RFLPs was as follows: PP 20 (21.1%), Pp 40 (42.1%), pp 35 (36.8%), and XX 5 (5.3%), Xx 33 (34.7%), xx 57 (60.0%) (capital letters signify the absence of, and lower case letters signify the presence of the restriction site of each RFLP). There was no significant relation between ER genotypes and BMD measured at several sites such as lumbar spine (L2-4), distal forearm, and femoral neck. Also no significant genotypic differences were found in the several biochemical markers and sex hormone status.
CONCLUSION
These data indicate that these polymorphisms are not predietive of bone turnover nor BMD in a sample of healthy Korean premenopausal women.

MeSH Terms

Biomarkers
Bone Density*
Estrogens*
Female
Femur Neck
Forearm
Genotype*
Germ-Line Mutation
Humans
Osteoporosis
Polymorphism, Restriction Fragment Length
Spine
Estrogens