Brief observation
No association between the TGF-β1 Leu10Pro polymorphism and osteoporosis among white women in the United States

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Methods

Study subjects were recruited between 1986 and 1988 from four centers in the United States. Of the initial cohort of 9704 women, we obtained buffy coat samples on 6795 women, of whom 3382 (50%) had sufficient deoxyribonucleic acid (DNA) available and provided informed consent for genotyping. In 37 women, no results were obtained because of a technical problem with the genotyping assay for the TGF-β1 polymorphism, leaving 3345 women in the analyses.

Estrogen use, smoking, and history of alcohol

Results

Of the 3345 women in whom genotype was determined, 1231 (37%) had the Leu/Leu genotype, 1624 (49%) had the Leu/Pro genotype, and 490 (15%) had the Pro/Pro genotype. These proportions did not diverge from expectations under Hardy-Weinberg equilibrium (P = 0.22). There were no associations between potential confounding factors of bone mineral density and TGF-β1 genotype (Table 1).

Lumbar spine bone mineral density for women with the Leu/Leu genotype was not significantly different than that for

Discussion

Transforming growth factor β1, which has been associated with the development of osteopenia in mice, may be an important regulator of bone development 16, 17. Thus, functional polymorphisms of TGF-β1 may affect bone mineral density and the risk of fracture. However, our data suggest that the Leu10Pro polymorphism is not associated with bone mineral density at the spine or hip, or the risk of osteoporotic fracture, among white women in the United States.

Several Japanese studies, however, have

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Supported by grants AG05407, AR35582, AG05349, AR35584, and AR35583 from the Public Health Service, Bethesda, Maryland.

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