Abstract
AbstractPatients with systemic sclerosis (SSc) have a disproportionately high prevalence of reduced bone mineral density (BMD). Polymorphisms of the vitamin D receptor (VDR) gene have been associated with osteoporosis in patients with autoimmune diseases. The aim of this study was to investigate the prevalence and possible effects of VDR polymorphism on BMD and bone metabolism in patients with SSc. In patients with SSc measurement of BMD was performed using dual-energy X-ray absorptiometry. VDR polymorphisms (FokI, BsmI) were genotyped using restriction fragment length polymorphism analysis. Markers of bone metabolism (calcium, osteocalcin, β-crosslaps) were determined. Primary endpoint was the prevalence of VDR gene polymorphisms and the association with reduced BMD. Secondary endpoints included associations between bone metabolism and VDR gene polymorphism. 79 Caucasian patients with SSc were included. Overall, 83.5% had reduced BMD (51.9% osteopenia, 31.6% osteoporosis). The prevalence of VDR gene polymorphism (73% BsmI, 77% FokI) was comparable to studies in healthy and rheumatic populations. The homozygous presence of FokI polymorphism, but not BsmI, was significantly associated with reduced axial BMD. Fokl polymorphism was significantly associated with reduced CTX levels, although changes remained within the reference limits. VDR polymorphisms can frequently be found in patients with SSc in comparable prevalence to healthy and rheumatic populations. The homozygous presence of FokI polymorphism, but not BsmI, was significantly associated with reduced axial BMD. This could be a possible contributor for the high prevalence of reduced BMD in 83.5% of patients with SSc in this study.Trial registration. DRKS00032768, date: 05.10.2023, retrospectively registered.
Funder
Justus-Liebig-Universität Gießen
Publisher
Springer Science and Business Media LLC
Reference41 articles.
1. Volkmann ER, Andréasson K, Smith V. Systemic sclerosis. The Lancet. 2023;401(10373):304–18.
2. Albrecht K, Binder S, Minden K, Poddubnyy D, Regierer AC, Strangfeld A, et al. Systematisches Review zur Schätzung der Prävalenz entzündlich rheumatischer Erkrankungen in Deutschland. Z Rheumatol. 2023;82(9):727–38.
3. Denton CP, Khanna D. Systemic sclerosis. The Lancet. 2017;390(10103):1685–99.
4. Consensus development conference. Diagnosis, prophylaxis, and treatment of osteoporosis. Am J Med. 1993;94(6):646–50.
5. Völzke H, Ittermann T, Schmidt CO, Baumeister SE, Schipf S, Alte D, et al. Prevalence trends in lifestyle-related risk factors. Dtsch Arztebl Int. 2015;112(11):185.
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献