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Pawel P Jagodzinski - One of the best experts on this subject based on the ideXlab platform.
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vitamin d receptor gene bsmi FokI apai and taqi polymorphisms and the risk of systemic lupus erythematosus
Molecular Biology Reports, 2013Co-Authors: Adrianna Mostowska, Margarita Lianeri, Mariusz Wudarski, Marzena Olesinska, Pawel P JagodzinskiAbstract:Recently, several studies have demonstrated the role of vitamin D receptor (VDR) polymorphisms in the development of systemic lupus erythematosus (SLE); however, these results are inconsistent between different cohorts. Therefore, we studied the prevalence of the VDR FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236) genotypes and alleles in SLE patients (n = 258) and healthy individuals (n = 545) in a Polish population. We did not observe significant differences for either the VDR FokI, BsmI, ApaI and TaqI genotype and allele frequencies in patients with SLE and healthy individuals. However, the frequency of the VDR F/F and F/f genotypes of FokI was statistically different between patients with renal disease and patients without this symptom OR = 3.228 (1.534–6.792, p = 0.0014), p corr = 0.0476)]. There was no association of the studied VDR BsmI, ApaI and TaqI polymorphisms with clinical manifestations and laboratory profiles in patients with SLE. Our study indicates that the studied VDR FokI variant might increase the risk of some clinical presentations in patients with SLE.
Christel Lambergallardt - One of the best experts on this subject based on the ideXlab platform.
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vitamin d receptor gene start codon polymorphism FokI is associated with forearm bone mineral density and calcaneal ultrasound in finnish adolescent boys but not in girls
Journal of Bone and Mineral Metabolism, 2004Co-Authors: Marika Laaksonen, Merja Karkkainen, Terhi A Outila, Hannu Rita, Christel LambergallardtAbstract:We examined the association between vitamin D receptor (VDR) gene FokI polymorphism and bone mineral density and quantitative ultrasound parameters in Finnish adolescents. We assessed bone mineral density at the distal sites of radius and ulna, quantitative ultrasound of the calcaneus, serum concentration of 25-hydroxyvitamin D (25-OHD), calcium intake, physical activity, and BsmI and FokI polymorphisms of the vitamin D receptor gene in 86 girls and 38 boys aged 14 to 16 years. In girls, FokI polymorphism was not significantly associated with bone mineral density or quantitative ultrasound parameters. In adolescent boys, the Ff genotype was associated with higher forearm BMD and calcaneal ultrasound values, when adjusted for body and bone size, BsmI polymorphism, calcium intake, vitamin D status, smoking, and physical activity.
Giovanni Chiriacò - One of the best experts on this subject based on the ideXlab platform.
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Low back pain and FokI (rs2228570) polymorphism of vitamin D receptor in athletes
BMC Sports Science Medicine and Rehabilitation, 2017Co-Authors: Sabina Cauci, Francesca Migliozzi, Carlo Simone Trombetta, Ilaria Venuto, Paola Saccheri, Luciana Travan, Giovanni ChiriacòAbstract:Background Low back pain (LBP) is common in athletes. LBP can be detrimental to athletic performance and health. Factors predisposing to LBP in athletes remain elusive and require further studies. We investigated whether carriage of a specific genotype and/or allele of vitamin D receptor gene (VDR) FokI polymorphism (rs2228570) was a risk factor for LBP in athletes of different sports disciplines. Methods This genotype/phenotype association case-control study included 60 Italian athletes (25 females and 35 males; mean age 33.9 ± 13.3 years; body-mass-index 23.5 ± 3.5 kg/m^2) of which 16.7% were swimmers, 11.7% soccer players, 11.7% volleyball players, 10.0% rugby players and other disciplines. VDR -FokI polymorphism was measured by PCR-RFLP in 24 athletes with LBP and 36 athletes without LBP episodes. Absence or presence of the FokI restriction site was denoted “F” and “f”, respectively. Other risk factors were evaluated by a questionnaire. Results The homozygous FF genotype was found in 58.3% (14/24) of athletes with LBP versus 27.8% (10/36) of athletes without LBP, adjusted OR = 5.78, 95% CI 1.41–23.8, P = 0.015. The F allele was a 2-fold risk factor to develop LBP, adjusted OR = 2.55, 95% CI 1.02–6.43, P = 0.046, while f allele was protective. Exposure to vehicle vibrations ≥2 h daily, and family history of lumbar spine pathology were significant risk factors for LBP with OR = 3.54, and OR = 9.21, respectively. Conclusions This is the first study in which an association between VDR -FokI polymorphism and LBP in athletes was found. Further research is needed to extend our results, and to clarify the biochemical pathways associated with how vitamin D modulates LBP in athletes. The VDR- FokI polymorphism should be considered when developing genetic focused studies of precision medicine on health in athletes.
Ercan Tuncel - One of the best experts on this subject based on the ideXlab platform.
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vitamin d receptor gene bsmi FokI apai taqi polymorphisms and bone mineral density in a group of turkish type 1 diabetic patients
Acta Diabetologica, 2011Co-Authors: Dilek Gogas Yavuz, Lezan Keskin, Sinem Kiyici, Murat Sert, Dilek Yazici, Ibrahim Sahin, Meral Yuksel, Oguzhan Deyneli, Hasan Aydin, Ercan TuncelAbstract:Previous studies have suggested an influence of vitamin D receptor alleles on bone metabolism and on susceptibility to type 1 diabetes mellitus in different ethnic populations. We aimed to investigate the distribution of vitamin D receptor (VDR) alleles in relation to biochemical bone turnover parameters and bone densitometry measurements in a group of Turkish type 1 diabetic patients. One hundred and seventeen patients (M/F 57/60, 27.6 ± 7.3 y duration of diabetes 8.1 ± 6.3 y) and 134 healthy controls (M/F 61/73, 26.2 ± 5.3 y) were included in the study. Bone mineral density (BMD) was evaluated by dual-energy X-ray absorptiometry (DEXA). The vitamin D receptor gene (VDR) polymorphisms FokI, Bsm1, Apa1, and Taq1 were examined using a PCR-based restriction analysis. Serum levels of calcium, phosphor osteocalcin, intact parathyroid hormone, and C telopeptide were measured. Vitamin D receptor Bsm1 Fok1, Apa1, and Taq1 genotype distributions were not different between patient with diabetes and control groups. BMD was 0.77 ± 0.2 g/cm(2) vs. 0.97 ± 0.2 g/cm(2) (P = 0.0001) for the femur, 1.0 ± 0.1 g/cm(2) vs. 1.13 ± 0.1 g/cm(2) (P = 0.001) for type 1 diabetic patients and controls. Bone turnover markers were significantly lower in type 1 diabetic group. BMD measurements and bone metabolic markers were not different between the genotypes in either the patient with diabetes or the controls. The VDR gene polymorphisms, Bsm1, Fok 1, Apa1, and Taq1 showed no influence on bone metabolism in our group of type 1 diabetic patients.
Adrianna Mostowska - One of the best experts on this subject based on the ideXlab platform.
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vitamin d receptor gene bsmi FokI apai and taqi polymorphisms and the risk of systemic lupus erythematosus
Molecular Biology Reports, 2013Co-Authors: Adrianna Mostowska, Margarita Lianeri, Mariusz Wudarski, Marzena Olesinska, Pawel P JagodzinskiAbstract:Recently, several studies have demonstrated the role of vitamin D receptor (VDR) polymorphisms in the development of systemic lupus erythematosus (SLE); however, these results are inconsistent between different cohorts. Therefore, we studied the prevalence of the VDR FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236) genotypes and alleles in SLE patients (n = 258) and healthy individuals (n = 545) in a Polish population. We did not observe significant differences for either the VDR FokI, BsmI, ApaI and TaqI genotype and allele frequencies in patients with SLE and healthy individuals. However, the frequency of the VDR F/F and F/f genotypes of FokI was statistically different between patients with renal disease and patients without this symptom OR = 3.228 (1.534–6.792, p = 0.0014), p corr = 0.0476)]. There was no association of the studied VDR BsmI, ApaI and TaqI polymorphisms with clinical manifestations and laboratory profiles in patients with SLE. Our study indicates that the studied VDR FokI variant might increase the risk of some clinical presentations in patients with SLE.