Dataset Information

GWAS for Genetic Determinants of Bone Fragility in European-American Premenopausal Women

ABSTRACT:

Osteoporotic fractures are largely due to an increased propensity to fall with aging and a reduction in bone strength. Although skeletal architecture contributes to fracture risk, bone mineral density (BMD) is the most important determinant of bone strength and fracture risk. Between 60 and 80% of the variance of BMD of adult Caucasian women is due to heritable factors. Final BMD is a function of peak bone mass attained during young adulthood and the subsequent rate of bone loss, which occurs as a result of both post-menopausal estrogen loss and aging. The evidence for a genetic contribution to rate of loss in BMD is substantially weaker than that for peak BMD. Therefore, we have focused our sample collection on the recruitment of premenopausal women, in whom we have sought to identify the genes influencing peak BMD at the spine and hip, the two major skeletal sites of osteoporotic fracture.

The primary goal of this study is to identify genes that affect peak BMD in premenopausal women. Identification of these genes may: 1) lead to molecular tests that predict risk of osteoporosis and allow institution of early preventive measures; 2) provide insight into basic bone cell biology and other factors that affect peak BMD; and 3) provide molecular targets for therapeutic agents to increase BMD.

PROVIDER: phs000138.v2.p1 | EGA |

REPOSITORIES: EGA

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Publications

Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis.

Koller D L DL Econs M J MJ Morin P A PA Christian J C JC Hui S L SL Parry P P Curran M E ME Rodriguez L A LA Conneally P M PM Joslyn G G Peacock M M Johnston C C CC Foroud T T

The Journal of clinical endocrinology and metabolism 20000901 9

A major determinant of the risk for osteoporosis is peak bone mineral density (BMD), which is largely determined by genetic factors. We recently reported linkage of peak BMD in a large sample of healthy sister pairs to chromosome 11q12-13. To identify additional loci underlying normal variations in peak BMD, we conducted an autosomal genome screen in 429 Caucasian sister pairs. Multipoint LOD scores were computed for BMD at four skeletal sites. Chromosomal regions with LOD scores above 1.85 were ...[more]

PMID: 10999795

Publication: 1/7

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Dataset Information

GWAS for Genetic Determinants of Bone Fragility in European-American Premenopausal Women

Publications

Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis.

Similar Datasets

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