Osteoporosis is a progressive bone disease that is
characterised by a decrease in bone mass and density and that leads to an
increased risk of fracture. In osteoporosis, the bone mineral density (BMD) is
reduced, bone microarchitecture deteriorates, and the amount and variety of
proteins in bone are altered. Both environmental
and genetic factors are the etiology of osteoporosis. In addition, family
and twin studies show that osteoporosis is a multi-gene regulation, strong
hereditary diseases. Osteoporosis and osteoporotic fractures had brought
serious harms to families and societies due to its high incidence, mortality,
and medical costs.
The early identification of a person who is at risk to
develop osteoporotic fractures is therefore of major clinical interest.
Morrison’s study have shown that vitamin D receptor has been associated with
Bone Mineral Density (BMD), which is the major determinant of osteoporosis
risk. Since then, many factors about the relationship between gene
polymorphism, BMD and fracture were intensively investigated, such as
typecollagen gene, calcitonin receptor gene, low-density lipoprotein receptor
related protein gene and cannabinoid receptor genes. However, vitamin D
receptor gene is the most studied and controversial gene.
Vitamin D receptor gene is located on chromosome 12, longer
than 100 kb. Through the genome of a single nucleotide polymorphism frequency
analysis, the vitamin D receptor gene polymorphism should be more than 100
kinds. We know vitamin D receptor gene polymorphisms mainly related to four
single nucleotide polymorphisms (BsmI, TaqI, ApaI and FokI) from recent study.
Fang et al. performed a meta-analysis relating BsmI or TaqI polymorphisms of
the VDR gene with Osteoporosis risk. They searched published studies from 1996
to September 2005 through PubMed and evaluated the genetic effect of the BsmI
and TaqI polymorphism of VDR on fracture risk and found out that there was no
relationship between the VDR BsmI or TaqI polymorphism and fracture risk.
No comments:
Post a Comment