The c.29T>C polymorphism of the transforming growth factor beta-1 (TGFB1) gene, bone mineral density and the occurrence of low-energy fractures in patients with inflammatory bowel disease

Abstract

Gastrointestinal tract conditions are frequently associated with low bone mineral density and increased risk of fractures due to osteoporosis, the latter concerning particularly inflammatory bowel disease (IBD) patients. One of the candidate genes involved in osteoporosis is the transforming growth factor beta-1 (TGFB1) whose polymorphisms may be responsible for the development of this disease. The aim of this study was to analyse the frequency of TGFB1 polymorphic variants and determine the association between the c.29T>C TGFB1 polymorphism, and bone mineral density and fractures in IBD patients. The study subjects included 198 IBD patients [100 suffering from Crohn's disease (CD) and 98 from ulcerative colitis (UC)] and 41 healthy volunteers as a control group. Densitometric bone measurements were obtained using dual energy X-ray absorptiometry. The TGFB1 genotyping was conducted using restriction fragments length polymorphism. We conducted an analysis of genotype distribution's concordance with Hardy-Weinberg equilibrium. We found statistically significant differences in lumbar spine (L2-L4) and femoral neck BMD and T-scores between CD, UC and control subgroups. The distribution of TGFB1 polymorphic variants among CD and UC patients was concordant with Hardy-Weinberg equilibrium. There were no statistically significant differences in densitometric parameters (lumbar spine and femoral neck BMD, T-score, and Z-score) between carriers of different TGFB1 polymorphisms among IBD (CD and UC) patients nor among controls. We have found no statistically significant differences in the prevalence of low-energy fractures between groups of different TGFB1 polymorphic variant carriers. The allele dose effect, recessive effect and dominant effect analysis did not show an association between low-energy fractures and the TGFB1 polymorphisms among CD and UC patients. We have not observed an association between the c.29T>C TGFB1 polymorphic variant and the bone mineral density within the cancellous and cortical bones (L2-L4 and femoral neck, respectively), or the occurrence of fractures among the IBD patients and their family members.

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

“…This study included 98 patients with UC (52 females, 46 males), 100 patients with CD (49 females, 51 males) and 41 controls (20 females, 21 males). Mean values for age, height, weight, BMI, lumbar (L2–L4) BMD, femoral neck BMD, T-scores, and Z-scores, were presented according to Becherini et al [37] and compared between all groups: CD patients, UC patients and controls (Table 1) consistent with earlier reports [38,39,40]. The determined levels of vitamin D, calcium, and phosphorus are compliant with the standards and not have indicated any significant differences between the study groups as previously reported [38].…”

Prevalence of osteoporosis and osteopenia in a population of patients with inflammatory bowel diseases from the Wielkopolska Region

“…8,9 However, other studies did not confirm this predisposition. 10 According to Frei et al, 11 the risk factors for osteoporosis in patients with CD include high daily doses of glucocorticoids and long therapy duration, young age at diagnosis (usually meaning INTRODUCTION Low bone mineral density (BMD) is an established complication in patients with inflammatory bowel disease (IBD), both Crohn disease (CD) and ulcerative colitis (UC). 1 However, data on the prevalence of skeletal system disorders in different populations of IBD patients show much variability due to different methodologies and sample sizes as well as different geographic locations.…”

The genetic association between osteoprotegerin (OPG) gene polymorphisms and bone mineral density (BMD) in postmenopausal women

“…[5–7] Studies from twins and families have shown that BMD in key skeletal sites such as spine and hip was genetically determined. [8,9] A number of susceptible genes such as vitamin D receptor (VDR), [10] transforming growth factor b1 (TGFB1), [11] calcitonin receptor (CTR), [12] and osteoprotegerin gene ( OPG ), also known as tumor necrosis factor receptor superfamily member 11b (TNFRS11B) [13,14] have been identified to be involved in the pathologenesis of osteoporosis. Osteoprotegerin, a member of the tumor necrosis factor receptor superfamily, is one of the most important candidate genes in the control of bone resorption.…”