Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families

Gu, Juan; Xiao, Wenjin; He, Jia; Zhang, Hao; Hu, Weiwei; Hu, Yuxi; Li, Miao; Liu, Yujuan; Fu, Wen‐Zhen; Yu, Jinbo; Gao, Gao; Yue, Hua; Ke, Yingying; Zhang, Zhenlin

doi:10.1038/aps.2009.169

Cited by 39 publications

(44 citation statements)

References 42 publications

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“…The TaqI, BsmI, FokI, ApaI, and other VDR polymorphisms have also been associated with obesity-related phenotypes in 6 additional studies conducted on Asian and European populations [33][34][35][36][37][38]. All reported associations for VDR SNPs are summarized in Table 1 and Table 2.…”

Section: Vdr Genetic Variantsmentioning

confidence: 99%

Genetic Factors and Molecular Mechanisms of Vitamin D and Obesity Relationship

et al. 2018

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Vitamin D (vitD) deficiency is associated with a wide range of chronic diseases and conditions, including obesity, and with an increasing severity of metabolic dysregulation, such as insulin resistance, hyperlipidemia, liver disease, and hypertension, both in children and adults. However, the nature of the association between low vitD status and obesity remains unclear. This fact has motivated the scientific community to conduct genetic association analyses between 25-hydroxyvitamin D (25[OH]D)-related genes and obesity traits. In this line, the variation in the vitD receptor (VDR) gene represents the bulk of the findings. Specifically, polymorphisms in the VDR gene have been associated with obesity traits in some but not all, studies. Thus, results regarding this matter remain inconclusive. Other genes aside from VDR have also been investigated in relation to obesity-related traits. However, again, findings have been inconsistent. In general, results point to the fact that the DBP/GC gene could be an important protein-linking obesity and vitD status. On the other hand, several studies have attempted to determine the molecular mechanism of the relationship between 25(OH)-D levels and obesity. Some of these studies suggest that vitD, due to its fat-soluble characteristic, is retained by the adipose tissue and has the capacity to metabolize 25(OH)-D locally, and this can be altered during obesity. Additionally, vitD is capable of regulating the gene expression related to adipogenesis process, inflammation, oxidative stress, and metabolism in mature adipocytes. Therefore, the aim of the present review was to evaluate the association between obesity and vitD deficiency describing the main molecular mechanism of the relationship and the link with genetic factors. Key Messages: Low serum 25(OH)-D is positively associated with obesity or BMI in adults and children. Circulating vitD concentrations are, at least, partially determined by genetic factors. VitD plays an important role in the adipogenesis process and inflammation status in adipocytes and adipose tissue.

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Section: Vdr Genetic Variantsmentioning

confidence: 99%

Genetic Factors and Molecular Mechanisms of Vitamin D and Obesity Relationship

et al. 2018

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“…Although the mechanism of the underlying relationship between ESR RsaI and XbaI gene polymorphism and DF risk are not yet known, several studies have reported that Chinese women with the homozygous X genotype had higher BMD compared to those with the homozygous x genotype [38,39]. However, no significant associations were observed in studies of Korean or Chinese populations [40,41], and other opposite associations were also described in studies of Kurabayashi [42] and Zhang [43]. For the ESR RsaI polymorphism, no major effect on BMD was observed in studies of Arko [44] and Efstathiadou [45].…”

Section: Discussionmentioning

confidence: 97%

Association of Dental Fluorosis with Polymorphisms of Estrogen Receptor Gene in Chinese Children

Zhang

Wang

et al. 2010

Biol Trace Elem Res

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Dental fluorosis (DF) is one of the important performances of endemic fluorosis. Some studies indicated that estrogen receptor (ESR) gene polymorphisms were associated with bone metabolism-related diseases. Therefore, it is possible that the variation in ESR genotypes will be associated with DF status. A case-control study was conducted among children aged 8-12 years with (n = 75) or without (n = 165) DF in China to investigate the relationship between ESR gene polymorphisms and DF. Gene polymorphisms were genotyped using the PCR-RFLP procedure. Children carrying R allele of ER RsaI had significantly increased risk of DF (Odds ratio (OR) = 1.821; 95% confidence interval (CI), 1.013-3.274) compared to children carrying r allele of ER RsaI in endemic fluorosis villages. For children with high-loaded fluoride status, carrying X allele of ESRα XbaI had a significantly decreased risk of DF (OR = 0.542; 95% CI, 0.314-0.936) compared to carrying x allele. This study provides the first evidence of an association between polymorphisms in the ESR gene with DF in high-fluoride-exposed populations. Further studies are needed to confirm the association.

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“…The coefficient of variability (CV) values were obtained from 15 volunteers with 3 measurements each. The respective CV values for the BMD of the lumbar spine 1-4, total hip, femoral neck, and trochanter were 1.39%, 0.70%, 2.22%, and 1.41% [1,[13][14][15] . The respective CV values for the fat mass measurements at the upper limbs, lower limbs, trunk, and total body were 7.58%, 3.28%, 2.52%, and 3.72%; the CV values for the lean mass at these sites were 1.18%, 1.59%, 1.12%, and 1.18%, respectively [15] .…”

Section: Subjectsmentioning

confidence: 94%

“…Using the female-offspring nuclear families, we not only detected an association between Myostatin polymorphisms and BMD variation, but we also successfully observed that genetic polymorphisms in estrogen receptor α and collagen1α2 likely influenced the attainment of peak BMD in Chinese females [1,18,20] . In addition, our latest study of genetic variants in the vitamin D receptor in relation to peak BMD in our male-offspring nuclear families detected an association [15] . In summary, the sample size of our maleoffspring nuclear families had sufficient power to detect a candidate gene as a QTL.…”

Section: Discussionmentioning

confidence: 99%

“…The respective CV values for the fat mass measurements at the upper limbs, lower limbs, trunk, and total body were 7.58%, 3.28%, 2.52%, and 3.72%; the CV values for the lean mass at these sites were 1.18%, 1.59%, 1.12%, and 1.18%, respectively [15] . The long-term precision (expressed as the CV of our DXA instrument, as was determined by daily measurements of a phantom) was 0.45% during the study period [1,14,15] .…”

Section: Subjectsmentioning

confidence: 97%

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Contribution of Myostatin gene polymorphisms to normal variation in lean mass, fat mass and peak BMD in Chinese male offspring

Yue

Zhang

et al. 2012

Acta Pharmacol Sin

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Aim: Myostatin gene is a member of the transforming growth factor-β (TGF-β) family that negatively regulates skeletal muscle growth. Genetic polymorphisms in Myostatin were found to be associated with the peak bone mineral density (BMD) in Chinese women. The purpose of this study was to investigate whether Myostatin played a role in the normal variation in peak BMD, lean mass (LM), and fat mass (FM) of Chinese men. Methods: Four hundred male-offspring nuclear families of Chinese Han ethnic group were recruited. Anthropometric measurements, including the peak BMD, body LM and FM were measured using dual-energy X-ray absorptiometry (DXA). The single nucleotide polymorphisms (SNPs) studied were tag-SNPs selected by sequencing. Both rs2293284 and +2278G﹥A were genotyped using TaqMan assay, and rs3791783 was genotyped with PCR-restriction fragment length polymorphism (RFLP) analysis. The associations of the SNPs with anthropometric variations were analyzed using the quantitative transmission disequilibrium test (QTDT). Results: Using QTDT to detect within-family associations, neither single SNP nor haplotype was found to be associated with peak BMD at any bone site. However, rs3791783 was found to be significantly associated with fat mass of the trunk (P<0.001). Moreover, for within-family associations, haplotypes AGG, AAA, and TGG were found to be significantly associated with the trunk fat mass (all P<0.001). Conclusion: Our results suggest that genetic variation within Myostatin may play a role in regulating the variation in fat mass in Chinese males. Additionally, the Myostatin gene may be a candidate that determines body fat mass in Chinese men.

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Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families

Cited by 39 publications

References 42 publications

Genetic Factors and Molecular Mechanisms of Vitamin D and Obesity Relationship

Genetic Factors and Molecular Mechanisms of Vitamin D and Obesity Relationship

Association of Dental Fluorosis with Polymorphisms of Estrogen Receptor Gene in Chinese Children

Contribution of Myostatin gene polymorphisms to normal variation in lean mass, fat mass and peak BMD in Chinese male offspring

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