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Korean Journal of Obstetrics & Gynecology 2003;46(5):913-921.
Published online May 1, 2003.
Association of Vitamin D Receptor, Estrogen Receptor, Transforming Growth Factor-beta1 and Interleukin-6 Gene Polymorphism with Bone Mass in Postmenopausal Korean Women.
Dong Jin Kwon, Young Oak You, Dai Hoon Kim, Hyun Hee Jo, Jang Heub Kim, Bahk Won Jong, Young Taik Lim, Eun Jung Kim, Jin Woo Lee, Jin Hong Kim
1Department of Obstetrics and Gynecology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
2Department of Orthopaedic surgery, The Catholic University of Korea, Seoul, Korea.
To evaluate the relationship between vitamin D receptor (VDR), estrogen receptor (ER), transforming growth factor-beta1 (TGF-beta1) and interleukin-6 (IL-6) gene polymorphism, and bone mineral density (BMD). MATERIALS AND METHODS: Restriction fragment length polymorphisms at the VDR Fok I, ER Pvu II, TGF-beta1 T869C and IL-6 G174C gene sites, and BMD at the lumbar spine, proximal femur were analyzed in 161 postmenopausal Korean women. The subjects were divided in normal, osteopenic, and osteoporotic on the basis of the T-score values according to the classification of the World Health Organization (WHO). RESULTS: The genotype distribution of VDR, ER, TGF-beta1 and IL-6 gene polymorphism was as follows: FF 32.9%, Ff 50.9%, ff 16.2%; PP 13.6%, Pp 48.4%, pp 38.0%; T/T 74.1%, T/C 12.4%, C/C 13.1%; G/G 99.4%, G/C 0.6%. Significant differences in the distribution of FF genotype among normal, osteopenic and osteoporotic group were observed. No significant differences in the distribution of ER and TGF-beta1 genotypes among three groups were observed. BMD at all sites in the FF genotype was significantly higher than in the Ff and ff genotypes. There was no relationship between ER and TGF-beta1 gene polymorphism, and BMD. By combining VDR, ER and TGF-1 genotypes, BMD at lumbar spine, femur neck and ward triangle in the FFPp genotype was significantly higher than in the FfPp, Ffpp and ffpp genotypes, and BMD at femur neck and ward triangle in the FFTT genotype was significantly higher than in the FfTT and ffTT genotypes. CONCLUSION: The results suggest that VDR Fok I polymorphisms, singly and in relation to ER Pvu II and TGF-beta1 T869C polymorphism, may influence bone mass in postmenopausal Korean women.
Key Words: Vitamin D receptor, Estrogen receptor, Transforming growth factor-beta1, Interleukin-6, Polymorphism, BMD

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