scholarly journals ESR1 Gene Variants Are Predictive of Osteoporosis in Female Patients with Crohn’s Disease

2019 ◽  
Vol 8 (9) ◽  
pp. 1306
Author(s):  
Iwona Krela-Kaźmierczak ◽  
Marzena Skrzypczak-Zielińska ◽  
Marta Kaczmarek-Ryś ◽  
Michał Michalak ◽  
Aleksandra Szymczak-Tomczak ◽  
...  

Decreased bone mass in patients with inflammatory bowel diseases (IBD) is a clinical problem with extremely severe consequences of osteoporotic fractures. Despite its increasing prevalence and the need for mandatory intervention and monitoring, it is often ignored in IBD patients’ care. Determining the biomarkers of susceptibility to bone mineral density disorder in IBD patients appears to be indispensable. We aim to investigate the impact of estrogen receptor gene (ESR1) gene polymorphisms on bone mineral density (BMD) in patients with ulcerative colitis (UC) and Crohn’s disease (CD), as they may contribute both, to osteoporosis and inflammatory processes. We characterised 197 patients with IBD (97 with UC, 100 with CD), and 41 controls carrying out vitamin D, calcium and phosphorus serum levels, and bone mineral density assessment at the lumbar spine and the femoral neck by dual-energy X-ray absorptiometry (DXA), ESR1 genotyping and haplotype analysis. We observed that women with CD showed the lowest bone density parameters, which corresponded to the ESR1 c.454-397T and c.454-351A allele dose. The ESR1 gene PvuII and XbaI TA (px) haplotype correlated with decreased femoral neck T-score (OR = 2.75, CI = [1.21–6.27], P-value = 0.016) and may be predictive of osteoporosis in female patients with CD.

2011 ◽  
Vol 58 (1) ◽  
Author(s):  
Magdalena Ignaszak-Szczepaniak ◽  
Wanda Horst-Sikorska ◽  
Joanna Dytfeld ◽  
Ewelina Gowin ◽  
Ryszard Słomski ◽  
...  

Graves' (GD) hyperthyroidism leads to reduced bone mineral density (BMD) accompanied by accelerated bone turnover. Ample studies have identified association between estrogen receptor (ESR1) gene polymorphism and decreased BMD and osteoporosis. In contrast, number of publications that link ESR1, BMD and Graves' disease is limited. The purpose of this study was to identify the association between ESR1 polymorphisms and BMD in premenopausal women with GD and to determine whether ESR1 polymorphic variants can predispose to GD. The study included 75 women aged 23-46 years with GD and 163 healthy controls. BMD was measured at lumbar spine and femoral neck. We investigated two SNPs in the ESR1 gene and analyzed genetic variants in the form of haplotypes reconstructed by statistical method. Three out of four possible haplotypes of the PvuII and XbaI restriction fragment length polymorphisms were found in GD patients: px (55.3 %), PX (33.3 %) and Px (11.4 %). Women homozygous for xx of XbaI and for pp of PvuII had the lowest BMD at lumbar spine. Moreover, the px haplotype predisposed to reduced lumbar BMD. No associations were observed for femoral neck BMD. No statistically significant relationship were found between ESR1 polymorphisms or their haplotypes and GD. These results indicate that the PvuII and the XbaI polymorphisms of ESR1 gene are associated with bone mineral density in premenopausal women with GD and may help to estimate the risk of bone loss particularly at lumbar spine. However, none of the ESR1 gene alleles predict the risk of GD in Polish female patients.


2005 ◽  
Vol 3 (2) ◽  
pp. 113-121 ◽  
Author(s):  
Erik J. Schoon ◽  
Simona Bollani ◽  
Peter R. Mills ◽  
Eran Israeli ◽  
Dieter Felsenberg ◽  
...  

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stefana Catalina Bilha ◽  
Letitia Leustean ◽  
Cristina Preda ◽  
Dumitru D. Branisteanu ◽  
Laura Mihalache ◽  
...  

Abstract Background Despite the increased fracture risk, bone mineral density (BMD) is variable in type 1 (T1D) and type 2 (T2D) diabetes mellitus. We aimed at comparing independent BMD predictors in T1D, T2D and control subjects, respectively. Methods Cross-sectional case-control study enrolling 30 T1D, 39 T2D and 69 age, sex and body mass index (BMI) – matched controls that underwent clinical examination, dual-energy X-ray absorptiometry (BMD at the lumbar spine and femoral neck) and serum determination of HbA1c and parameters of calcium and phosphate metabolism. Results T2D patients had similar BMD compared to T1D individuals (after adjusting for age, BMI and disease duration) and to matched controls, respectively. In multiple regression analysis, diabetes duration – but not HbA1c- negatively predicted femoral neck BMD in T1D (β= -0.39, p = 0.014), while BMI was a positive predictor for lumbar spine (β = 0.46, p = 0.006) and femoral neck BMD (β = 0.44, p = 0.007) in T2D, besides gender influence. Age negatively predicted BMD in controls, but not in patients with diabetes. Conclusions Long-standing diabetes and female gender particularly increase the risk for low bone mass in T1D. An increased body weight partially hinders BMD loss in T2D. The impact of age appears to be surpassed by that of other bone regulating factors in both T1D and T2D patients.


1998 ◽  
Vol 115 (1) ◽  
pp. 36-41 ◽  
Author(s):  
Richard J. Robinson ◽  
Tara Krzywicki ◽  
Len Almond ◽  
Farook Al–Azzawi ◽  
Keith Abrams ◽  
...  

2001 ◽  
Vol 120 (5) ◽  
pp. A457
Author(s):  
Mark S. Silverberg ◽  
A Hillary Steinhart ◽  
Katherine A. Simhovitch ◽  
David Ec Cole ◽  
Laurence A. Rubin ◽  
...  

2018 ◽  
Vol 16 (3) ◽  
pp. 436 ◽  
Author(s):  
Fernanda Gomes Coqueiro ◽  
Raquel Rocha ◽  
Camilla Almeida Menezes ◽  
Mirella Brasil Lopes ◽  
Vanessa Rosa Oliveira ◽  
...  

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