Estrogen-related genes and postmenopausal osteoporosis risk

Mendoza, Nicolás; Quereda, Francisco; Presa, Jesús; Salamanca, Andrés Bordalí; Sánchez-Borrego, Rafael; Vázquez, Francisco; Astorquiza, T. M. -

doi:10.3109/13697137.2012.656160

Cited by 23 publications

(8 citation statements)

References 25 publications

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“…In particular, women with an activating FSHR N 680 S polymorphism have an increased risk of developing postmenopausal osteoporosis, independent of circulating levels of FSH and estrogens (52). Likewise, in a multicenter study of postmenopausal Spanish women two-gene combinations of wild type IVS4 or 3′UTR markers of CYP19A1 with FSHR and BMP15 genes yielded skeletal protection (53). Therefore, epidemiologic data derived from several cross-sectional and cohort studies, together with genetic association studies, suggest a detrimental effect of FSH on bone.…”

Section: Introductionmentioning

confidence: 99%

FSH Beyond Fertility

et al. 2019

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The traditional view of follicle-stimulating hormone (FSH) as a reproductive hormone is changing. It has been shown that FSH receptors (FSHRs) are expressed in various extra-gonadal tissues and mediate the biological effects of FSH at those sites. Molecular, animal, epidemiologic, and clinical data suggest that elevated serum FSH may play a significant role in the evolution of bone loss and obesity, as well as contributing to cardiovascular and cancer risk. This review summarizes recent data on FSH action beyond reproduction.

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Section: Introductionmentioning

confidence: 99%

FSH Beyond Fertility

et al. 2019

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“…Like sex, genetic traits are nonmodifiable factors for osteoporosis 19 and approximately 75% of osteoporosis is heritable. 21 Moreover, BMD, an essential biomarker for osteoporosis and osteoporotic fracture prediction is a highly heritable quantitative trait. 7 , 10 , 22 It is evident that approximately 50% to 82% of variations in BMD are of genetic origin.…”

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confidence: 99%

Association between osteoporosis and menopause in relation to SOX6 rs297325 variant in Taiwanese women

et al. 2020

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Objective: Osteoporosis, the most prevalent bone disorder in humans, is a global public health issue and its relationship with menopause is well-established. The interaction between menopause and genes on osteoporosis risk is, however, yet to be fully elucidated. We assessed the association between menopause and osteoporosis in relation to the SOX6 rs297325 variant in Taiwanese women. Methods: There were 7,581 female participants, aged 30 to 70 years old. Information on SOX6 rs297325 and menopause were obtained from the Taiwan Biobank Database while that on osteoporosis was obtained from the National Health Insurance Research Database. Results: Menopause but not SOX6 rs297325 was significantly associated with a higher risk of osteoporosis (odds ratio [OR] = 1.48; 95% confidence interval [CI] = 1.04-2.10). The interaction between menopause and rs297325 on osteoporosis was significant ( P = 0.0216). After stratification by rs297325 genotypes, the risk of osteoporosis was significantly higher in menopausal women having the TT + CC genotype (OR = 2.02; 95% CI = 1.21-3.38). After stratification by menopausal status and rs297325 genotypes, the OR; 95% CI was 0.62; 0.38 to 0.99 in premenopausal women with the TC + CC genotype and 1.24; 0.82 to 1.88 in menopausal women with the TC + CC genotype. Conclusion: SOX6 rs297325 was not significantly associated with osteoporosis but might have modulated the association between menopause and osteoporosis. The risk of osteoporosis was higher in menopausal women with the TC + CC genotype but lower in premenopausal women with the TC + CC genotype.

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“…The single-nucleotide polymorphisms (SNPs) of the NRIP1 gene which modulates transcriptional activity of the oestrogen receptor, were correlative with postmenopausal osteoporosis. 36,37 Chen and Xia 38 showed that there was a close relationship between NRIP1 and BMD in B cells in a microarray study. The expression of IRAK3 is predominantly in peripheral blood leukocytes and induced strongly upon the maturation of macrophages.…”

Section: Discussionmentioning

confidence: 99%

Identification of candidate genes in osteoporosis by integrated microarray analysis

Wang

Fei

et al. 2016

Bone & Joint Research

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ObjectivesIn order to screen the altered gene expression profile in peripheral blood mononuclear cells of patients with osteoporosis, we performed an integrated analysis of the online microarray studies of osteoporosis.MethodsWe searched the Gene Expression Omnibus (GEO) database for microarray studies of peripheral blood mononuclear cells in patients with osteoporosis. Subsequently, we integrated gene expression data sets from multiple microarray studies to obtain differentially expressed genes (DEGs) between patients with osteoporosis and normal controls. Gene function analysis was performed to uncover the functions of identified DEGs.ResultsA total of three microarray studies were selected for integrated analysis. In all, 1125 genes were found to be signiﬁcantly differentially expressed between osteoporosis patients and normal controls, with 373 upregulated and 752 downregulated genes. Positive regulation of the cellular amino metabolic process (gene ontology (GO): 0033240, false discovery rate (FDR) = 1.00E + 00) was significantly enriched under the GO category for biological processes, while for molecular functions, flavin adenine dinucleotide binding (GO: 0050660, FDR = 3.66E-01) and androgen receptor binding (GO: 0050681, FDR = 6.35E-01) were significantly enriched. DEGs were enriched in many osteoporosis-related signalling pathways, including those of mitogen-activated protein kinase (MAPK) and calcium. Protein-protein interaction (PPI) network analysis showed that the significant hub proteins contained ubiquitin specific peptidase 9, X-linked (Degree = 99), ubiquitin specific peptidase 19 (Degree = 57) and ubiquitin conjugating enzyme E2 B (Degree = 57).ConclusionAnalysis of gene function of identified differentially expressed genes may expand our understanding of fundamental mechanisms leading to osteoporosis. Moreover, significantly enriched pathways, such as MAPK and calcium, may involve in osteoporosis through osteoblastic differentiation and bone formation.Cite this article: J. J. Li, B. Q. Wang, Q. Fei, Y. Yang, D. Li. Identification of candidate genes in osteoporosis by integrated microarray analysis. Bone Joint Res 2016;5:594–601. DOI: 10.1302/2046-3758.512.BJR-2016-0073.R1.

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Estrogen-related genes and postmenopausal osteoporosis risk

Abstract: Variants of the new candidate genes (NRIP and BMP15) can predispose patients to osteoporosis.

Cited by 23 publications

References 25 publications

FSH Beyond Fertility

FSH Beyond Fertility

Association between osteoporosis and menopause in relation to SOX6 rs297325 variant in Taiwanese women

Identification of candidate genes in osteoporosis by integrated microarray analysis

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