Do studies of genetic variations in osteoporosis tell us anything useful - Essay Example

Through the use of various genetic methods, the genes contributing to or responsible in the development of osteoporosis are now identified. It is estimated that the genetic components and variations account for 50 to 90 % of the total BMD variations in the osteoporosis patients (Ferrari and Rizzoli, 2005). Findings in researches show that there are five key regions that are significantly associated with bone mineral density (Styrkarsdottir et al, 2008). These include receptor activator of nuclear factor -B ligand gene or RANKL, the osteoprotegrin gene or OPG, the estrogen receptor 1 gene or the ESR 1, the BTB domain containing 40 gene or ZBTB40 and the major histocompatibility complex region 6p21 respectively (Styrkarsdottir et al, 2008).

Polymorphism has been suggested in the areas of VDR or vitamin D receptor, ESR1 or estrogen receptor alpha, type I collagen genes or the COL1A1 etc. (Zmuda, Sheu and Moffet, 2006). VDR gene variants are associated with differences in body height as well as bone size determination (Fang et al, 2007). However, VDR gene mutations have been implicated in many bone disorders including 1,25- dihydroxyvitamin D-resistant rickets, osteoporosis etc. (Uitterlinden et al, 2002). Other genes identified include alpha 2-HS-glycoprotein or AHSG, parathyroid hormones, bone G1a protein (BGP), transforming growth factor beta, PTHR1 and IL-6.

the difference in the allele frequencies among Chinese and Caucasian populations were at VDR-ApaI and PTH-BstBI loci respectively. In the case of osteoporosis, IL-6 becomes more active as the key substance that limits its activity, that is the estrogen is reduced in the post menopausal women, which leads to increased breakdown of the bone structure. The genetic loci identified in bone metabolism include COL1A1, TGF beta 1, SOST, VDR, ER alpha,LRBP5, BMP2 and IL-6 respectively. First deciding on the topic of research carried out the research.

Currently there are many researches that are