科研之友
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摘要
Osteoporosis, a major public health problem, is becoming increasingly prevalent with the aging of the world population. This skeletal disorder is generalized, affecting the elderly, both sexes, and all racial groups' especially postmenopausal women are common victims. It results in fragility of the bone and leads to fractures. Ostopenia is less severe condition with fragile bones. Osteoporosis is polygenic condition in which many genes and environmental factors play key role. Transforming growth factor-beta 1 (TGF-beta 1) is considered a putative regulator of osteoclastic-osteoblastic interaction (coupling). The present study was done to examine whether a sequence variation of the TGF-beta 1 gene (713-8delC) is related to bone mineral density (BMD) and osteoporosis in Pakistani local osteoporotic female population. BMD was used as diagnostic tool to identify the subjects suffering from osteoporosis. Subjects were divided into three groups according to BMD i.e., osteoporotic, osteopenic and normal. Fifty samples were collected, 30 from osteoporotic, 11 from osteopenic and 9 from normal females. Sequence was amplified as PCR fragment and RFLP was done using Van911 enzyme to determine the sequence variation. The results showed that 70% of the individuals had a one base deletion in the intron sequence, 8 bases prior to exon 5 (713-8delC), which could influence splicing, while 33% normal women exhibited the 713-8delC. This sequence variation was significantly higher in the osteoporotic group and there was an association between deletion and low BMD (p < 0.05). A direct relationship between age and BMD was also established. Average BMD (-3.133 T-score) and age of osteoporotic subjects (52.7 years) was highest among three BMD defined groups, which indicates that with the increase in age, BMD becomes lower and chance of having osteoporosis increases. Most of the post-menopausal women (80%) were found to be osteoporotic in Pakistani local female population.
- 出版日期2013-6
