Vitamin D receptor, BsmI, FokI, ApaI, TaqI and estrogen receptor alpha, PvuII and XbaI, gene polymorphisms in women with osteoporosis

Vlădoiu, Suzana; Oros, Sabina; Manda, Dana; Roșca, Roxana; Ianăş, O

doi:10.1530/endoabs.32.p104

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“…The frequency distribution of the ApaI genotype in the present study was similar to that of Han women in urban areas including Guangzhou, Beijing and Harbin ( 34 , 35 ). It is also consistent with the distribution of genotypes in countries including South Korea and Japan ( 20 , 36 ). However, the distribution of gene frequency in populations from the USA and Europe, including Spain and Portugal ( 37 , 38 ), exhibit significant differences, and marked difference has been identified in the frequencies of comparative genes between Uygur and Kazakh populations ( 39 ).…”

Section: Discussionsupporting

confidence: 86%

“…A number of studies ( 16 , 17 , 19 ) have been undertaken in this field [Morrison et al ( 19 ) was the first to document an association between the VDR genotype and bone mass], but the results have been controversial and no clear correlation between ApaI gene polymorphism and osteoporosis has been identified. Vladoiu et al ( 20 ) reported that ApaI polymorphisms in the VDR gene have different phenotypes, which were associated with significantly different BMD values, suggesting that it may be used as a genetic marker to predict the risk of osteoporosis. Mitra et al ( 21 ) identified an association between BsmI and ApaI polymorphisms and BMD in postmenopausal Indian women, further suggesting that genetic background serves a role.…”

Section: Introductionmentioning

confidence: 99%

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Association of vitamin D receptor ApaI gene polymorphism with osteoporosis susceptibility in postmenopausal Han Chinese women in Xinjiang

et al. 2018

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Osteoporosis is a polygenic disorder and has been demonstrated to be associated with ~30 candidate genes, the majority of which have also been implicated in the regulation of bone mineral density (BMD). Vitamin D receptor (VDR) is the candidate gene that has been most extensively studied. Certain studies have reported that the VDR single nucleotide polymorphism ApaI is associated with the risk of osteoporosis in Caucasian and African women. However, this association has not yet been studied in postmenopausal Han Chinese women in the Xinjiang area. In the present study, ApaI polymorphisms of VDR were defined by polymerase chain reaction-restriction fragment length polymorphism, in order to analyze the distribution of ApaI polymorphisms in postmenopausal Han Chinese women from Xinjiang. BMD was measured by dual energy X-ray absorptiometry at the lumbar spine (L2-4), Ward's triangle, great trochanter and femoral shaft. A total of 336 women were included in this study. The genotype distribution of ApaI was consistent with the Hardy-Weinberg equilibrium (all P>0.05). There were no significant differences in ApaI genotype frequencies between the 90 cases in the osteoporosis group and 246 cases in the non-osteoporosis group (P=0.946). Meanwhile, it was identified that BMD values of the tested locations were negatively correlated with age (P<0.05) and positively correlated with body mass index (BMI; P<0.05). On further attribution risk analysis, BMD was identified as a risk factor [odds ratio (OR): 0.464, 95% confidence interval (CI): 0.372–0.580, P=0.001] and BMI a protective factor (OR: 1.502, 95% CI: 1.008–2.240, P=0.032) in osteoporosis. When BMD was adjusted for confounding factors including age and BMI, it was observed that the ApaI polymorphism was not associated with BMD at the sites tested (P>0.05). In conclusion, the present study identified no significant association of the common VDR polymorphism ApaI with BMD at several skeletal sites in postmenopausal Han Chinese women in the Xinjiang area. Age was negatively correlated with BMD at different sites and identified as a risk factor; while BMI was positively correlated with BMD and identified as a protective factor.

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