Journal of Korean Endocrine Society 1997;12(2):207-214.
Published online January 1, 2001.
Non-association of Pvull and Xval Estrogen receptor Genotypes with Bone Mineral Density and Bone Markers in Korean Premenopausal Women.
Hyun Koo Yoon, Ho Yeon Chung, In Gul Moon, Chang Hoon Yim, Sang Woo Kim, Ki Ok Han, In Kwon Han, Hun Ki Min, Dong Won Suh, Dong Hee Cho, Bo Kyung Park, Jong Tae Choi
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.
Key Words: Bone mineral density, Estrogen receptor, Restriction frag#ment-length polymorphism, Osteoporosis

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