A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major

Dimitriadou, Meropi; Christoforidis, Athanasios; Fidani, Liana; Economou, Marina; Vlachaki, Efthymia; Athanassiou‐Metaxa, Miranda; Katzos, George

doi:10.1007/s00198-015-3264-1

Cited by 10 publications

(3 citation statements)

References 37 publications

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“…Another study indicated a significant role for VDR polymorphisms ( BsmI / ApaI / TaqI haplotype) in the susceptibility of childhood epilepsy which is highly associated with vitamin D deficiency [50]. In thalassemic patients, it was reported that FokI [51] and BsmI polymorphisms influence vitamin D levels [52]. In a study by Ragia et al [53], the CC genotype of FokI (corresponding to the FF genotype) was associated with the lowest concentration of vitamin D in patients with obstructive sleep apnea syndrome, compared to those bearing the CT (Ff) or TT (ff) genotype, and the interaction of vitamin D with VDR FokI polymorphism was significantly associated with obstructive sleep apnea syndrome.…”

Section: Discussionmentioning

confidence: 99%

Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

et al. 2021

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Background/Aim: An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of gene polymorphisms of the vitamin D receptor (VDR). In this study, the serum levels of 25(OH)D3 were correlated with common VDR polymorphisms (ApaI, BsmI, FokI, and TaqI) in 98 subjects of a Greek homogeneous rural population. Methods: 25(OH)D3 concentration was measured by ultra-HPLC, and the VDR gene polymorphisms were identified by quantitative real-time PCR followed by amplicon high-resolution melting analysis. Results: Subjects carrying either the B BsmI (OR: 0.52, 95% CI: 0.27–0.99) or t TaqI (OR: 2.06, 95%: 1.06–3.99) allele presented twice the risk for developing vitamin D deficiency compared to the reference allele. Moreover, subjects carrying 1, 2, or all 3 of these genotypes (BB/Bb, Tt/tt, and FF) demonstrated 2-fold (OR: 2.04, 95% CI: 0.42–9.92), 3.6-fold (OR: 3.62, 95% CI: 1.07–12.2), and 7-fold (OR: 6.92, 95% CI: 1.68–28.5) increased risk for low 25(OH)D3 levels, respectively. Conclusions: Our findings reveal a cumulative effect of specific VDR gene polymorphisms that may regulate vitamin D concentrations explaining, in part, the paradox of vitamin D deficiency in sunny regions, with important implications for precision medicine.

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Section: Discussionmentioning

confidence: 99%

Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

et al. 2021

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“…In our thalassemic population, we found that VDR (FokI, BsmI) and COL1A1 (Sp1) gene polymorphisms had no influence on BMD, but BsmI was found to display beneficial effects on patient response to alendronate therapy (76). It has recently been reported that the f allele of the Fok-I gene polymorphism, when found in homozygosity, confers protection on the BMD values of young thalassemic patients (77).…”

Section: Genetic Factorsmentioning

confidence: 99%

Pathogenesis of Thalassemia Major-associated Osteoporosis: A Review with Insights from Clinical Experience

Gaudio

Morabito

Catalano

et al. 2019

Jcrpe

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Due to increasing life expectancy in thalassemia major (TM), osteoporosis is emerging as a significant problem. Its aetiology is multifactorial, culminating in increased bone resorption and impaired remodelling. Hypogonadism and marrow expansion seem to play an important role, but iron overload, deferoxamine toxicity, a defective growth hormone-insulin-like growth factor-1 axis and multiple endocrinopathies may represent additional causes of bone damage. Many of these patients, though under appropriate treatment programs, do not achieve normal peak bone mass. The receptor activator of nuclear factor kappa-ß (RANK)/RANK ligand/osteoprotegerin and the Wnt/β-catenin systems work as major mediators of imbalanced bone turnover and bone loss. Additional genetic factors, such as collagen type 1 alpha 1 and vitamin D receptor gene polymorphisms, may exert some influence on the enhanced fracture risk observed in TM. To date, in spite of adequate hormone replacement, chelating therapy and acceptable haemoglobin levels, subjects with TM display impaired bone density and imbalanced bone turnover, thus the puzzle of the pathogenesis of TM-induced osteoporosis remains far from being solved.

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“…Moreover, after controlling for age, weight, and hypogonadism, vitamin D is a strong predictor of spine BMD . Recent observations suggest that thalassemia patients who carry Fok‐1 ff type polymorphisms have increased hip BMD . Despite these strong associations, to date there have been no published vitamin D interventional trials where bone density or fracture have been primary outcomes.…”

Section: Low Bone Massmentioning

confidence: 99%

The importance of nutrition for health in patients with transfusion‐dependent thalassemia

Fung

2016

Annals of the New York Academy of Sciences

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Nutrition is increasingly being seen by care providers as important for patients with thalassemia. However, the definition of optimal nutritional support and the means to provide that support remain elusive. This review focuses on the relationships between nutritional status and three common comorbidities in patients with thalassemia: low bone mass, growth deficiency, and diabetes. The association between low bone mass and specific nutrient deficiencies (e.g., vitamin D, zinc) is clear, while the role of nutritional adequacy for young patients with growth deficiencies requires careful analysis to distinguish it from chronic anemia and endocrine insufficiency. Correction of isolated nutritional deficiencies in small cohorts of patients with thalassemia has shown some promise at improving both bone health and linear growth in the short term. However, the long-term safety and acceptability of these practices need to be evaluated. On the whole, there are few well-designed, adequately powered studies of the role of general dietary or specific micronutrients in the cause, treatment, or prevention of these commonly observed morbidities in thalassemia. Until these data are gathered, it is suggested that patients with thalassemia be monitored frequently and that their nutritional deficiencies be corrected when observed in order to advance their overall health and quality of life.

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A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major

Abstract: Our study indicates a protective role of the f allele of the Fok-I gene polymorphism when found in homozygosity on bone mineral density of young patients with b-TM.

Cited by 10 publications

References 37 publications

Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

Pathogenesis of Thalassemia Major-associated Osteoporosis: A Review with Insights from Clinical Experience

The importance of nutrition for health in patients with transfusion‐dependent thalassemia

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