Association of Vitamin D Receptor Polymorphisms With Activity of Acromegaly, Vitamin D Status and Risk of Osteoporotic Fractures in Acromegaly Patients

Abstract

Introduction: The vitamin D receptor (VDR) gene is one of the most widely studied tumorigenesis-related genes. The primary objective of this study was assessment of possible roles of VDR gene polymorphisms in acromegaly, with regard to the activity of the disease and compared them with a control group. Furthermore, we have assessed the associations between these polymorphisms with vitamin D status as well as with TBS (trabecular bone score) and risk for osteoporotic fracture in acromegaly patients.Materials and Methods: We studied 69 patients with acromegaly and 51 healthy controls (CG). Acromegaly patients were divided into three subgroups on the basis of disease activity (AA, active acromegaly; CD, controlled disease; CA, cured acromegaly). In all patients, blood samples were obtained to assess the hormonal and metabolic status as well as genetic analysis. VDR polymorphisms were determined by means of two methods, Polymerase Chain Reactions (PCR) and minisequencing (SNaPshot).Results: Genotype frequencies for VDR ApaI, TaqI, BsmI, and FokI polymorphisms did not deviate significantly from Hardy-Weinberg equilibrium (HWE) in the acromegaly group as well as in the control group. There was no statistically significant difference in distributions of these four VDR genotypes between acromegaly patients and the control group. This study revealed statistically significant negative correlation between risk of major osteoporotic fractures and genotypes tt (TaqI), aa (ApaI) and bb (BsmI) in acromegaly groups. Furthermore, the negative correlations were observed between TBS and risk for major osteoporotic fractures and hip fractures.Conclusions: Our study suggests that tt (TaqI), aa (ApaI) and bb (BsmI) of VDR gene may be associated with better bone quality and microarchitecture (higher TBS), which lead to a lower risk of osteoporotic fractures in acromegaly patients. TBS may be a useful tool for predicting risk of fractures in acromegaly patients.

Trabecular Bone Score as a Reliable Measure of Lumbar Spine Bone Microarchitecture in Acromegalic Patients

“…In the present study, we found that TBS values were lower in acromegalic patients compared to age, BMI, and sex-matched healthy controls, while no significant differences were observed in BMD values between the two groups, both at lumbar and femoral sites. These data are in line with the results reported by other authors, although some studies did not find significant differences in TBS values between patients and matched controls [ 23 , 41 , 42 , 43 , 45 , 46 , 47 ]. Furthermore, we observed that both BMD and TBS values were significantly lower in hypogonadal patients compared to the eugonadal ones, thus confirming the pivotal role of gonadal status on both bone density and quality in acromegaly [ 6 , 40 ].…”

“…Currently, few studies have analyzed TBS in patients with acromegaly [ 23 , 24 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 ]. In most cases, the authors reported lower TBS values in acromegalic patients compared to healthy subjects.…”

Bone densitometry by radiofrequency echographic multi-spectrometry (REMS) in acromegaly patients

“…Nevertheless, we do not have other useful tools to detect bone damage and estimate real risk for fractures. As we showed in a previous study, usage of FRAX could be functional in combination with other tools such as TBS [27]. The early diagnosis of acromegaly and investigations for new markers as well as for new diagnostic methods for assessing the risk of osteoporotic fractures are very important to improve care of acromegaly patients.…”

Complications and Comorbidities of Acromegaly—Retrospective Study in Polish Center

“…Assessment of bone quality can improve this evaluation. Recently introduced trabecular bone score (TBS) method is a promising tool, which enables to assess bone tissue microarchitecture ( 47 , 48 ).…”