Evidence for a Major Gene for Bone Mineral Density in Idiopathic Osteoporotic Families
- 1 June 2000
- journal article
- Published by Oxford University Press (OUP) in Journal of Bone and Mineral Research
- Vol. 15 (6) , 1132-1137
- https://doi.org/10.1359/jbmr.2000.15.6.1132
Abstract
Although there have been a number of studies indicating a heritable component for osteoporosis in middle to late adulthood, the etiology of osteoporosis in young people is uncertain. The present study aims to evaluate the extent to which genetic factors influence familial resemblance for bone mineral density (BMD) in families ascertained on the basis of young osteoporotic probands. The sample comprises eight families (74 total individuals) that were identified through a proband under the age of 35 years with a history of two or more fractures and a spinal bone density of at least 2.5 SDs below the mean for age and sex (Z score). Secondary causes of osteoporosis were excluded in the probands. In total, 27% (18/66) of the probands' relatives had osteoporosis and an additional 30% (20/66) had osteopenia. Classical segregation analysis was performed to evaluate the extent to which a genetic etiology could account for familial resemblance in these families. The results indicate a major gene of codominant inheritance for spinal BMD. Model-fitting comparisons revealed no support for environmental effects or for polygenic inheritance.Keywords
This publication has 22 references indexed in Scilit:
- Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13Journal of Bone and Mineral Research, 1998
- First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4qEuropean Journal of Human Genetics, 1998
- Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13)American Journal of Human Genetics, 1997
- Serum IGF 1 is low and correlated with osteoblastic surface in idiopathic osteoporosisJournal of Bone and Mineral Research, 1995
- Environmental and genetic factors affecting bone mass similarity of bone density among members of healthy familiesArthritis & Rheumatism, 1995
- IDIOPATHIC JUVENILE OSTEOPOROSIS: EXPERIENCE OF TWENTY-ONE PATIENTSRheumatology, 1995
- Mutation analysis of coding sequences for type I procollagen in individuals with low bone densityJournal of Bone and Mineral Research, 1994
- Changes in axial bone density with age: A twin studyJournal of Bone and Mineral Research, 1993
- Reduced Bone Mass in Daughters of Women with OsteoporosisNew England Journal of Medicine, 1989
- Genetic determinants of bone mass in adults. A twin study.Journal of Clinical Investigation, 1987