Hosoi Takayuki
Endocrinology Section, Tokyo Metropolitan Geriatric Hospital.
Clin Calcium. 2005 May;15(5):753-61.
The genes determining bone mineral density have been searched by association and linkage studies using gene polymorphisms. Candidate gene approaches as well as genome-wide studies with single nucleotide polymorphisms have produced many products. In addition, rare mutations causing monogenic hereditary bone diseases gave novel aspects for the genes contributing the variation in bone mineral density. Furthermore, studies of functional SNPs would explain the variation in bone mineral density and basic pathophysiology of osteoporosis.
通过使用基因多态性的关联研究和连锁研究,人们对决定骨密度的基因进行了探索。候选基因方法以及使用单核苷酸多态性的全基因组研究已经产生了许多成果。此外,导致单基因遗传性骨病的罕见突变,为影响骨密度变化的基因提供了新的研究方向。此外,对功能性单核苷酸多态性的研究将解释骨密度的变化以及骨质疏松症的基本病理生理学。