Assessment of linkage and association of 13 genetic loci with bone mineral density
| Autor: | Keith D. K. Luk, Mandy Y.M. Ng, Andrew D. Paterson, Helen H.L. Lau, William M.W. Cheung, Annie W.C. Kung, Pak C. Sham, Vivian Chan |
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| Rok vydání: | 2005 |
| Předmět: |
musculoskeletal diseases
Proband Adult Male medicine.medical_specialty Candidate gene Genetic Linkage Endocrinology Diabetes and Metabolism Osteoporosis Biology Collagen Type I Endocrinology Asian People Gene Frequency Genetic linkage Polymorphism (computer science) Bone Density Transforming Growth Factor beta Internal medicine medicine Estrogen Receptor beta Humans Orthopedics and Sports Medicine LDL-Receptor Related Proteins Aged Bone mineral Polymorphism Genetic Estrogen Receptor alpha General Medicine Transmission disequilibrium test Middle Aged musculoskeletal system medicine.disease Pedigree Collagen Type I alpha 1 Chain Low Density Lipoprotein Receptor-Related Protein-5 Receptors Calcitriol Female Estrogen receptor alpha Receptors Calcium-Sensing |
| Zdroj: | Journal of bone and mineral metabolism. 24(3) |
| ISSN: | 0914-8779 |
| Popis: | Bone mineral density (BMD), an important risk factor for osteoporosis, is a complex trait likely affected by multiple genes. The linkage and/or association of 13 polymorphic loci of seven candidate genes (estrogen receptor alpha [ERalpha] and beta [ERbeta], calcium-sensing receptor, vitamin D receptor, collagen type 1alpha1, low-density lipoprotein [LDL] receptor-related protein 5 [LRPS], and transforming growth factor beta1) were evaluated in 177 southern Chinese pedigrees of 674 subjects, with each pedigree identified through a proband having a BMD Z score of -1.28 or less at the hip or spine. A suggestive linkage was detected between the IVS1-351A/G polymorphism of ERalpha and spine BMD, and between the 1082G/A, 1730G/A, and D14S1026 polymorphisms of ERbeta and BMD at both spine and hip. The quantitative transmission disequilibrium test (QTDT) detected total family association between 1730G/A of ERbeta and BMD at spine and hip; between D14S1026 of ERbeta and hip BMD; and between the 266A/G and 2220C/T polymorphisms of LRP5 and hip BMD. Similar total family associations were detected when only the females were analyzed. In addition, the IVS1-397T/C polymorphism of ERalpha was associated with spine BMD, and the 266A/G and 2220C/T polymorphisms of LRP5 were associated with femoral neck BMD in the females. A within-family association was detected with the IVS1-397T/C polymorphism of ERalpha, and the 266A/G and 2220C/T polymorphisms of LRP5 in the females. The effect of each polymorphism on BMD variance ranged from 1% to 4%. In conclusion, ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females. |
| Databáze: | OpenAIRE |
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