Estrogen Receptor α Gene Polymorphisms and Peak Bone Density in Chinese Nuclear Families

Qin, Yue; Shen, Hui; Huang, Qibai; Zhao, Liang; Zhou, Qi; Li, Miao Xin; He, Jin; Mo, Xiao Yang; Lu, Jing; Recker, Robert R.; Deng, Hong−Wen

doi:10.1359/jbmr.2003.18.6.1028

Cited by 38 publications

(48 citation statements)

References 78 publications

(99 reference statements)

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“…Suggestive within-family association was obtained between (TA) 18 and spine BMD (P=0.035), which explained only about 2.42% of total variation even if we assume the within-family association to be significant. For BMI, we obtained suggestive withinfamily association at the (TA) 15 (P=0.043) and (TA) 24 (P=0.021) alleles, and suggestive total association with (Qin et al 2003). In the present study, no significant linkage was found with either BMD or BMI (Table 3).…”

Section: Qtdt Analysissupporting

confidence: 46%

“…The subjects in this study came from our previous study (Qin et al 2003), which was approved by the Research Administration Departments of the Shanghai Sixth People's Hospital and Hunan Normal University. Each nuclear family comprised both parents and at least one female child aged between 20 and 45 years.…”

Section: Subjectsmentioning

confidence: 99%

“…Since our previous study (Qin et al 2003) studied the relationship between PvuII and XbaI RFLP loci and BMD using the sample from which the present study sample was selected, we did not study the linkage and association between BMD and these two polymorphisms.…”

Section: Introductionmentioning

confidence: 99%

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Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families

et al. 2005

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Estrogen receptor alpha (ER-a) plays an important role in mediating estrogen signaling. Studies in Caucasian populations have shown that it is involved in endocrine-related diseases such as osteoporosis and obesity. In the present study, we first used a quantitative transmission disequilibrium test (QTDT) to examine the relationship between this gene and both the osteoporosis-related phenotype bone mineral density (BMD), and the obesity-related phenotype body mass index (BMI), in 384 Chinese nuclear families. We genotyped a dinucleotide repeat marker (TA) n , and a long-range haplotype was reconstructed using this marker and two other restriction fragment length polymorphism (RFLP) markers at PvuII and XbaI loci. Although we found significant total association [allele (TA) 21 with hip BMD (P=0.001), and haplotype Px(TA) 21 with spine (P=0.0007) and hip (P=0.0006) BMD], the more reliable within-family associations were not significant between these phenotype pairs. No linkage signal was obtained for either spine BMD or hip BMD. We found no association or linkage between any of the three studied polymorphisms and the long-range haplotypes of the ER-a gene and BMI. Our study does not support an association of the ER-a gene with BMD and BMI in the Chinese population.

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Section: Qtdt Analysissupporting

confidence: 46%

Section: Subjectsmentioning

confidence: 99%

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Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families

et al. 2005

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“…Study subjects were selected from 401 nuclear families used in our earlier study (Qin et al 2003), which was approved by the Research Administration Departments of Shanghai's Sixth People's Hospital and Hunan Normal University. All subjects were recruited from Shanghai local residents.…”

Section: Subjectsmentioning

confidence: 99%

High heritability of bone size at the hip and spine in Chinese

2004

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Bone size, an independent determinant of bone strength, is an important risk factor for osteoporotic fracture. In the present study, we investigated the magnitude of the genetic determination of bone size at the spine and hip and their genetic covariation (if any) in a population of Chinese residing in Shanghai City of P.R. China. The subjects were 50 healthy full-sib pairs of females, 188 mother-daughter pairs, and 128 husbandwife pairs selected from 401 nuclear families. Bone size (centimeters squared) was measured at the spine and hip by dual-energy X-ray absorptiometry (DEXA). The narrow-sense heritabilities h 2 (SE) of bone size at the spine and hip were 0.63 (0.14) and 0.45 (0.14) respectively when estimated by full-sib pairs, and 0.60 (0.07) and 0.69 (0.07) respectively when estimated by motherdaughter pairs. Marginally significant genetic correlation was observed between the spine and hip bone size. The significantly and moderately high h 2 values for bone size demonstrated in this study warrant a subsequent genetic study to search for the genes or genomic regions underlying the phenotype in Chinese.

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“…The latter has more than 80% power to test a candidate gene as a quantitative trait loci (QTL) and can explain about 10% of the bone phenotype variation [1,13,18,19] . 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] .…”

Section: Discussionmentioning

confidence: 99%

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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Estrogen Receptor α Gene Polymorphisms and Peak Bone Density in Chinese Nuclear Families

Cited by 38 publications

References 78 publications

Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families

Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families

High heritability of bone size at the hip and spine in Chinese

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

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