Differential Genetic Effects of &lt;EMPH TYPE="ITAL"&gt;ESR1&lt;/EMPH&gt; Gene Polymorphisms on Osteoporosis Outcomes

Ioannidis, John P. A.; Ralston, Stuart H.; Bennett, Simon T.; Brandi, Maria Luisa; Grinberg, Daniel; Karassa, Fotini B.; Langdahl, Bente; Meurs, Joyce B. J. van; Mosekilde, Leif; Scollen, Serena; Albagha, Omar; Bustamante, Mariona; Carey, Alisoun H.; Dunning, Alison M.; Enjuanes, Anna; Leeuwen, Johannes P.T.M. van; Mavilia, Carmelo; Masi, Laura; McGuigan, Fiona; Nogués, Xavier; Pols, Huibert A. P.; Reid, David M.; Schuit, Stephanie C. E.; Sherlock, Rachael E.; Uitterlinden, André G.

doi:10.1001/jama.292.17.2105

Cited by 265 publications

(165 citation statements)

References 38 publications

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“…Although our results indicated significant total association between the Px(TA) 21 haplotype and the (TA) 21 allele with hip BMD, the insignificant results of within-family association and linkage analyses do not support any real association between the (TA) n locus and BMD in our sample. Our results are in accordance with the conclusion of a recent meta-analysis demonstrating that none of the three polymorphisms or haplotypes had any statistically significant effect on BMD, but that XbaI polymorphism determines fracture risk by mechanisms independent of BMD (Ioannidis et al 2004).…”

Section: Discussionsupporting

confidence: 92%

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: Discussionsupporting

confidence: 92%

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

et al. 2005

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“…Therefore, unsurprisingly, recent genome-wide association studies (GWAS) for adult height identified, among other bone-related genes, GDF5, a cartilage-derived morphogenetic protein (Soranzo et al 2009;Sanna et al 2008;Weedon et al 2008). Earlier, it was suggested that ESR1 polymorphisms influence the age-related decrease in stature (Ioannidis et al 2004). …”

Section: Biomarkers Of Agingmentioning

confidence: 99%

How pleiotropic genetics of the musculoskeletal system can inform genomics and phenomics of aging

Karasik

2010

AGE

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Genetic study can provide insight into the biologic mechanisms underlying inter-individual differences in susceptibility to (or resistance to) organisms' aging. Recent advances in molecular genetics and genetic epidemiology provide the necessary tools to perform a study of the genetic sources of biological aging. However, to be successful, the genetic study of a complex condition requires a heritable phenotype to be developed and validated. Genome-wide association studies offer an unbiased approach to identify new candidate genes for human diseases. It is hypothesized that convergent results from multiple aging-related traits will point out the genes responsible for the general aging of the organism. This perspective focuses on the musculoskeletal aging as an example of an approach to identify a downstream common pathway that summarizes aging processes. Since the musculoskeletal traits are linked to the state of many vital functions, disability, and ultimately survival rates, we postulate that there is significance in studying musculoskeletal aging. Construction of an integrated phenotype of aging can be achieved based on shared genetics among multiple musculoskeletal biomarkers. Valid biomarkers from other systems of the organism should be similarly explored. The new composite aging score needs to be validated by determining whether it predicts all-cause mortality, incidences of major chronic diseases, and disability late in life. Comprehensive databases on biomarkers of musculoskeletal aging in multiple large cohort studies, along with information on various health outcomes, are needed to validate the proposed measure of biological aging.

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“…Safarinejad et al reported that compared to those of TT genotype, carriers of XbaI TC genotype had significantly higher SHBG levels and significant differences in total and free T and E2 levels between the genotypes were also found (Safarinejad et al, 2010). From a meta-analysis conducted by Ioannidis et al have found that for women who were homozygous for the absence of an XbaI recognition site, the adjusted odds of all fractures were reduced by 19% (OR = 0.81, 95% CI = 0.71-0.93) and vertebral fractures by 35% (OR = 0.65, 95% CI = 0.49-0.87) (Ioannidis et al, 2004). Wedren et al found that allele C was associated with a significant reduced risk for endometrial cancer risk (Wedren et al, 2008), but another study conducted by Ashton et al found that allele C was a risk factor for endometrial cancer risk, which may be due to the population diversity (Ashton et al, 2009).…”

Section: Discussionmentioning

confidence: 92%

Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis

Ding

Cui²,

Xu³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Background: Epidemiological studies evaluating the association of two variants rs9340799 and rs2234693 on estrogen receptor 1 (ESR1) with prostate risk have generated inconsistent results. Methods: A meta-analysis was here conducted to systematically evaluate the relationship of these two variants with prostate cancer susceptibility. Results: For rs9340799, heterozygosity of T/C carriers showed a significant increased prostate cancer risk with a pooled odds ratio (

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Differential Genetic Effects of <EMPH TYPE="ITAL">ESR1</EMPH> Gene Polymorphisms on Osteoporosis Outcomes

Cited by 265 publications

References 38 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

How pleiotropic genetics of the musculoskeletal system can inform genomics and phenomics of aging

Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis

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