作者
Natalia Garcia‐Giralt, Xavier Nogués, Anna Enjuanes, Jordi Puig, Leonardo Mellibovsky, Anne Bay‐Jensen, Ramon Carreras, Susana Balcells, Adolfo Díez‐Pérez, Daniel Grinberg
发表日期
2002/3/1
期刊
Journal of Bone and Mineral Research
卷号
17
期号
3
页码范围
384-393
出版商
John Wiley and Sons and The American Society for Bone and Mineral Research (ASBMR)
简介
Single‐nucleotide polymorphisms (SNPs) in regulatory regions of candidate genes may determine variability in bone mineral density (BMD) because they may be responsible for differences in levels of a gene product in response to external signals. Under this hypothesis, we scanned an 800‐base pair (bp) region within the COL1A1 promoter, known to harbor cis elements important for in vivo expression, and we found two new polymorphisms: −1663indelT and −1997 G/T. The G to T transversion at −1997 was associated with lumbar spine BMD (p = 0.015) when tested in a cohort of 256 postmenopausal women after adjusting by age, body weight, and years since menopause; a lower degree of association was detected also for femoral neck BMD in a subgroup of 146 women in univariate analysis and after adjusting by age (p = 0.044). The polymorphism −1663indelT, which corresponds to a deletion of a T in …
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