Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Meng D

PROVIDER: S-EPMC6256115 | biostudies-other | 2018 Dec

REPOSITORIES: biostudies-other

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

Meng Defeng D Ding Xiao X Lan Jiaojiao J Peng Fangliang F Zhu Weiguo W Cheng Zeyu Z Jia Haoruo H Xu Hao H Shi Chenhui C Pang Lijuan L Wang Wei Shan WS

Biomedical reports 20181003 6

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 p ...[more]

PMID: 30546875

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Project description:BackgroundPostmenopausal osteoporosis (PMOP) has long been a pervasive public health concern. With the aging Chinese population, the prevention, assessment and management of postmenopausal osteoporosis were particularly important. During the breastfeeding, a large amount of Calcium loss from maternal bone for infants' growth. However, whether this loss is completely reversible remains controversial. As the relationship between breastfeeding and postmenopausal osteoporosis is different from society to society and is not clear from the literature, the purpose of this study was to determine whether breastfeeding was an independent factor for the development of PMOP based on Chinese postmenopausal population.MethodsA retrospective cross-sectional investigation was conducted at Tianjin Xiaobailou health Community Healthcare Center between December 2017 and June 2018. Postmenopausal women over the age of 50 who underwent the annual health examination or visited the center to perform bone densitometry as a part of routine screening for disease were recruited. A trained community nurse administered a questionnaire to all participants by face-to-face interview. Participants were questioned about age, BMI, Vitamin D and calcium intake, the history of smoking, drinking and fracture, age of menarche, age of menopause, the number of pregnancy, parity, feeding pattern (breastfeeding, artificial feeding and mixed feeding) and overall breastfeeding duration. BMD measurements were carried out using quantitative ultrasound (QUS) at the bilateral radius.ResultsA total of 202 women who met the inclusive and exclusive criteria were enrolled. Univariate analysis revealed that overall breastfeeding more than 24 months increased the risk of osteoporosis (OR 39.00, 95%CI 2.40-634.65, p = 0.010). However, multivariate estimate of the risk of osteoporosis by overall breastfeeding duration suggested that when controlling for age, BMI, the number of pregnancy and parity, the overall breastfeeding duration was not an independent risk factor for postmenopausal osteoporosis (OR 5.22, 95%CI 0.18-147.76, p = 0.333). Additionally, age (OR 1.16, 95%CI 1.05-1.29, p = 0.003), BMI (OR 1.26, 95%CI 1.04-1.54, p = 0.021) and the number of pregnancy (OR 1.80, 95%CI 1.08-2.98, p = 0.024) were significant associated with postmenopausal osteoporosis.ConclusionBreastfeeding was not associated with postmenopausal osteoporosis, while age, BMI and the number of pregnancy may contribute to increasing risk of postmenopausal osteoporosis in Chinese women.

Project description:Vitamin D receptor (VDR) is one of the main mediators of vitamin D biological activity. VDR dysfunction might substantially contribute to development of postmenopausal osteoporosis (PMO). Numerous studies have revealed the effects of several VDR gene variants on osteoporosis risk, although significant variation in different ethnicities have been suggested. The main purpose of this work was to assess the frequency of distribution of VDR genetic variants with established effect and evaluate their haplotype association with the risk of PMO in a cohort of Belarusian and Lithuanian women. Case group included women with PMO (n?=?149), the control group comprised women with normal bone mineral density (BMD) and without previous fragility fractures (n?=?172). Both groups were matched for age, height, sex, and BMI-no statistically significant differences observed. VDR gene polymorphic variants (ApaI rs7975232, BsmI rs1544410, TaqI rs731236, and Cdx2 rs11568820) were determined using polymerase chain reaction and restriction fragment length polymorphism. The lumbar spine (L1-L4) and femoral neck BMD was measured using dual-energy X-ray absorptiometry. Association between each VDR variant and PMO risk was assessed using multiple logistic regression. The genotyping revealed statistically significant difference in the rs7975232 genotype frequencies between the patients and the controls (homozygous C/C genotype was overrepresented in patients, p?=?0.008). Patients with osteoporosis were also three times more likely to carry the rs1544410 G/G genotype, when compared to controls. We found that rs7975232, rs1544410, and rs731236 variants were in a strong direct linkage disequilibrium (p?<?0.0001), suggesting that risk alleles of these markers are preferably inherited jointly. For the bearers of C-G-C haplotype (consisting of rs7975232, rs1544410, and rs731236 unfavorable alleles), the risk of PMO was significantly higher (OR?=?4.7, 95% CI 2.8-8.1, p?<?0.0001) compared to controls. This haplotype was significantly over-represented in PMO group compared to all other haplotypes. Our findings highlight the importance of identified haplotypes of VDR gene variants. Complex screening of these genetic markers can be used to implement personalized clinical approach for prevention, treatment, and rehabilitation programs.

Dataset Information

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

Publications

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

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