Genetic Variation in CYP2R1 and GC Genes Associated With Vitamin D Deficiency Status

2016 ◽  
Vol 30 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Nicole A. Slater ◽  
Michelle L. Rager ◽  
Dawn E. Havrda ◽  
Arthur F. Harralson

This cross-sectional study enrolled 180 patients at a private family practice in Virginia. Total serum vitamin D concentrations were obtained weekly from January 30, 2013, through March 30, 2013, in consecutive patients regularly scheduled for laboratory work at the practice. Patients were categorized into 2 groups and analyzed for variant alleles in vitamin D receptor ( VDR; rs2228570), cytochrome P450 2R1 ( CYP2R1; rs10741657), 7-dehydrocholesterol reductase ( DHCR7; rs12785878), and group-specific component ( GC; rs2282679) to determine whether variants of those alleles influenced total serum 25(OH)D concentrations. One-hundred and eighty patients were enrolled, with 40 (22%) being sufficient, 25-hydroxy vitamin D level 25(OH)D ≥ 30 ng/mL, and 140 (78%) being insufficient, 25(OH)D < 30 ng/mL. Of the 4 genes, 2 genes, CYP2R1 (rs10741657) and GC (rs2282679), demonstrated a significant association related to vitamin D status. Subjects with 1 or more variant alleles at rs10741657 were almost 3.7 (odds ratio [OR] 3.67; 95% confidence interval [CI]: 1.35-9.99) times more likely be insufficient in vitamin D and subjects with 1 or more variant alleles at rs2282679 were about half (OR 0.42; 95% CI: 0.18-0.93) as likely to be insufficient in vitamin D. Allelic variations in CYP2R1 (rs10741657) and GC (rs2282679) affect vitamin D levels, but variant alleles on VDR (rs2228570) and DHCR7 (rs12785878) were not correlated with vitamin D deficiency, 25(OH)D < 30 ng/mL.

2020 ◽  
Author(s):  
Navaneethakrishnan Suganthan ◽  
Thirunavukarasu Kumanan ◽  
Vithegi Kesavan ◽  
Mahalingam Aravinthan ◽  
Nadarajah Rajeshkannan

Abstract Background Vitamin D deficiency is common among post-menopausal women and it is important to treat vitamin D deficiency to prevent falls and fractures in patients with osteoporosis. Few studies examined the prevalence of vitamin D deficiency in general population of Sri Lanka but no studies to date done among post-menopausal women with osteoporosis. This is the first study of such kind conducted to evaluate the serum vitamin D levels and factors related to Vitamin D deficiency among postmenopausal women.Methodology Hospital based Cross -sectional study was conducted at the Endocrine Unit, Teaching Hospital from January to December 2018.During the study period 105 postmenopausal women registered for DEXA scan with Endocrine Unit were recruited to the study. Data collection was done by investigators and blood sample was taken from each participant by registered nursing officers and sample was analysed by using immunohistochemistry assays. Serum Vitamin D levels were categorized and data analysis was done using SPSS 26.Results Mean age of 105 postmenopausal women was 67.7 with minimum 33 and maximum 84 years. Mean Vitamin D levels were 27.5(range11.7-52.5ng/ml). Vitamin D levels were adequate in only 36.2% (95%CI: 27.4-45.7) of women, 44% had insufficient levels and deficiency was present in 19% (95%CI: 12.4-27.4) of participants. Among the 105 women 20% were vegetarian and 53% of them consuming milk on average 3 days per week, 76.2% consuming fish on average 2 days per week, 64.8% consuming egg on average 1 day per week. Furthermore seventy five participants (71.4%) reported adequate level of sun exposure (>30minutes).Commonly reported vitamin deficiency symptoms includes paraesthesia (57.1%),bone pain (55.2%), easy fatigability (54.3%), malaise (51.4%), muscle cramps (43.8%) and proximal myopathy (40.0%).Among 71(66.7%) completed bone density assessment,38% (27.3-49.7) of them showed osteoporosis range. Vertebral Z score showed a significant correlation with vitamin D level(r-0.252, P-0.034).Conclusion Prevalence of vitamin D deficiency is relatively high among the post-menopausal women with a provisional diagnosis of osteoporosis. It is essential to correct vitamin D deficiency with supplementation when initiating treatment for osteoporosis. So vitamin D testing is desirable in decision making to treat or not to treat.


Author(s):  
Mehrdad Afarid ◽  
Naghme Ghattavi ◽  
Mohammad Karim Johari

Purpose: To evaluate the levels of vitamin D in the serum of diabetic patients with and without diabetic retinopathy (DR). Methods: Thirty patients with DR and thirty diabetic patients without retinopathy were included in this cross-sectional study. Based on ophthalmic examination, patients with DR were categorized into having non-proliferative retinopathy (NPDR) and proliferative retinopathy (PDR). Patients were tested for fasting blood sugar (FBS), hemoglobin A1C (HbA1C), 25-hydroxy vitamin D (25 (OH) D), and creatinine levels in the serum, and for urine protein. Vitamin D deficiency was defined as a serum 25 (OH) D level < 20 ng/mL. Results: We found that all diabetic patients had mild vitamin D deficiency (serum 25 (OH) D level = 10–20 ng/mL). The mean serum 25 (OH) D concentration in patients with DR was lower than in those without DR (12.10 ± 14.62 ng/mL vs 15.61 ± 9.40 ng/mL, respectively, P = 0.012). Trace or more proteinuria was frequently present in patients with DR than in those without DR (56% in DR vs 30% in non-DR; P = 0.037). There were no significant differences in the FBS, HbA1C, and serum creatinine levels between patients with or without retinopathy. Conclusion: The present study demonstrated that patients with DR had lower levels of serum vitamin D compared with those without retinopathy.


2019 ◽  
Author(s):  
Navaneethakrishnan Suganthan ◽  
Thirunavukarasu Kumanan ◽  
Vithegi Kesavan ◽  
Mahalingam Aravinthan ◽  
Nadarajah Rajeshkannan

Abstract Background Vitamin D deficiency is common among post-menopausal women and it is important to treat vitamin D deficiency to prevent falls and fractures in patients with osteoporosis. Few studies examined the prevalence of vitamin D deficiency in general population of Sri Lanka but no studies to date done among post-menopausal women with osteoporosis. This is the first study of such kind conducted to evaluate the serum vitamin D levels and factors related to Vitamin D deficiency among postmenopausal women.Methodology Hospital based Cross -sectional study was conducted at the Endocrine Unit, Teaching Hospital from January to December 2018.During the study period 105 postmenopausal women registered for DEXA scan with Endocrine Unit were recruited to the study. Data collection was done by investigators and blood sample was taken from each participant by registered nursing officers and sample was analysed by using immunohistochemistry assays. Serum Vitamin D levels were categorized and data analysis was done using SPSS 26.Results Mean age of 105 postmenopausal women was 67.7 with minimum 33 and maximum 84 years. Mean Vitamin D levels were 27.5(range11.7-52.5ng/ml). Vitamin D levels were adequate in only 36.2% (95%CI: 27.4-45.7) of women, 44% had insufficient levels and deficiency was present in 19% (95%CI: 12.4-27.4) of participants. Among the 105 women 20% were vegetarian and 53% of them consuming milk on average 3 days per week, 76.2% consuming fish on average 2 days per week, 64.8% consuming egg on average 1 day per week. Furthermore seventy five participants (71.4%) reported adequate level of sun exposure (>30minutes).Commonly reported vitamin deficiency symptoms includes paraesthesia (57.1%),bone pain (55.2%), easy fatigability (54.3%), malaise (51.4%), muscle cramps (43.8%) and proximal myopathy (40.0%).Among 71(66.7%) completed bone density assessment,38% (27.3-49.7) of them showed osteoporosis range. Vertebral Z score showed a significant correlation with vitamin D level(r-0.252, P-0.034).Conclusion Prevalence of vitamin D deficiency is relatively high among the post-menopausal women with a provisional diagnosis of osteoporosis. It is essential to correct vitamin D deficiency with supplementation when initiating treatment for osteoporosis. So vitamin D testing is desirable in decision making to treat or not to treat.


2020 ◽  
Author(s):  
Navaneethakrishnan Suganthan ◽  
Thirunavukarasu Kumanan ◽  
Vithegi Kesavan ◽  
Mahalingam Aravinthan ◽  
Nadarajah Rajeshkannan

Abstract Background Vitamin D deficiency is common among post-menopausal women and it is important to treat vitamin D deficiency to prevent falls and fractures in patients with osteoporosis. Few studies examined the prevalence of vitamin D deficiency in general population of Sri Lanka but no studies to date done among post-menopausal women with osteoporosis. This is the first study of such kind conducted to evaluate the serum vitamin D levels and factors related to Vitamin D deficiency among postmenopausal women.Methodology Hospital based Cross -sectional study was conducted at the Endocrine Unit, Teaching Hospital from January to December 2018.During the study period 105 postmenopausal women registered for DEXA scan with Endocrine Unit were recruited to the study. Data collection was done by investigators and blood sample was taken from each participant by registered nursing officers and sample was analysed by using immunohistochemistry assays. Serum Vitamin D levels were categorized and data analysis was done using SPSS 26.Results Mean age of 105 postmenopausal women was 67.7 with minimum 33 and maximum 84 years. Mean Vitamin D levels were 27.5(range11.7-52.5ng/ml). Vitamin D levels were adequate in only 36.2% (95%CI: 27.4-45.7) of women, 44% had insufficient levels and deficiency was present in 19% (95%CI: 12.4-27.4) of participants. Among the 105 women 20% were vegetarian and 53% of them consuming milk on average 3 days per week, 76.2% consuming fish on average 2 days per week, 64.8% consuming egg on average 1 day per week. Furthermore seventy five participants (71.4%) reported adequate level of sun exposure (>30minutes).Commonly reported vitamin deficiency symptoms includes paraesthesia (57.1%),bone pain (55.2%), easy fatigability (54.3%), malaise (51.4%), muscle cramps (43.8%) and proximal myopathy (40.0%).Among 71(66.7%) completed bone density assessment,38% (27.3-49.7) of them showed osteoporosis range. Vertebral Z score showed a significant correlation with vitamin D level(r-0.252, P-0.034).Conclusion Prevalence of vitamin D deficiency is relatively high among the post-menopausal women with a provisional diagnosis of osteoporosis. It is essential to correct vitamin D deficiency with supplementation when initiating treatment for osteoporosis. So vitamin D testing is desirable in decision making to treat or not to treat.


Author(s):  
Rajendra K. Chaudhari ◽  
Cosmica Shah ◽  
Ananya Raman ◽  
Dikshya Yadav ◽  
Basanta Gelal

<p><strong>Background:</strong> Vitamin D deficiency has become a public health problem worldwide regardless to geography. Vitamin D deficiency leads to osteoporosis and also associated with metabolic syndrome, cardiovascular diseases, obesity, diabetes and autoimmune disorders. Early detection of vitamin D level in blood followed by supplementation can prevent various chronic diseases. There are limited studies of vitamin D deficiency from eastern Nepal therefore we planned to assess the prevalence of vitamin D in different age groups and gender among patients visiting at BPKIHS.</p><p><strong>Methods:</strong> This descriptive cross-sectional study was done among the patients attending Immunoassay laboratory of the BPKIHS. Based on purposive sampling technique, data of first visit of patients were taken who came for investigation of vitamin D from January to March, 2019. Serum 25 (OH) vitamin D levels were measured by CLIA method using Maglumi 2000 (Snibe Co. Ltd, Shenzhen, China).</p><p><strong>Results:</strong> A total of 2399 (73.81%) female and 851 (26.19%) males were enrolled in the study among which 66 (2.03%), 133 (4.09%) and 3051 (93.88%) were children, adolescent and adult respectively. This study revealed 61.2%, 27.6% and 11.2% patients having deficient, insufficient and sufficient level of serum vitamin D respectively. Significantly, highest percentages of adolescents were found vitamin D deficient compared to adults and children. Adolescents have shown significantly low median levels of vitamin D (p&lt;0.001).</p><p><strong>Conclusions:</strong> Prevalence of vitamin D deficiency is higher in patients visiting BPKIHS. Comparatively higher percentage of vitamin D deficiency and low vitamin D levels are reported among adolescents compared to children and adult.</p>


Author(s):  
Ritu Karoli ◽  
Shobhit Shakya ◽  
Prem Shanker Singh

Background: Comorbidity of diabetes and tuberculosis has serious health implications. Presence of diabetes at least three times increases the risk of tuberculosis which may be mediated by an abnormal innate immune response due to hyperglycaemia or low vitamin D levels.Aim of the study- Present study was carried out to investigate whether lower serum 25(OH) D might be associated with higher prevalence of pulmonary or extra pulmonary tuberculosis which might provide an evidence for a role of vitamin D in the comorbidity of these two diseases and does it have any correlation with glycemic status.Methods: In a hospital based cross sectional study, 264 patients with newly diagnosed tuberculosis were enrolled and according to glycemic status they were divided into three groups. They were assessed for vitamin D deficiency in addition to routine laboratory and biochemical parameters.Results: The patients with diabetes had significantly lower vitamin D levels. The prevalence of severe vitamin D deficiency was highest in patients who had diabetes with tuberculosis. There was negative correlation between vitamin D levels and Hba1C and extensiveness of pulmonary tuberculosisConclusions: Serum vitamin D levels were significantly lower in tuberculosis patients with pre-diabetes and type 2 diabetes compared with those, who had normal glycemic status. We suggest that there is a need to pay more attention to vitamin D status in this country and if there is coexisting diabetes or impaired glucose intolerance, emphasis on vitamin D supplementation can be of utmost importance.


2020 ◽  
Vol 90 (3-4) ◽  
pp. 346-352
Author(s):  
Vincenzo Pilone ◽  
Salvatore Tramontano ◽  
Carmen Cutolo ◽  
Federica Marchese ◽  
Antonio Maria Pagano ◽  
...  

Abstract. We aim to assess the prevalence of vitamin D deficiency (VDD) in patients scheduled for bariatric surgery (BS), and to identify factors that might be associated with VDD. We conducted a cross-sectional observational study involving all consecutive patients scheduled for BS from 2017 to 2019. The exclusion criteria were missing data for vitamin D levels, intake of vitamin D supplements in the 3 months prior to serum vitamin D determination, and renal insufficiency. A total of 206 patients (mean age and body mass index [BMI] of 34.9 ± 10.7 years, and 44.3 ± 6.99 kg/m2, respectively) met the inclusion criteria and were enrolled for data analysis. VDD (<19.9 ng/mL), severe VDD (<10 ng/mL), and vitamin D insufficiency (20–29.9 ng/mL) were present in 68.8 %, 12.5 %, and 31.2 % of patients, respectively. A significant inverse correlation was found between vitamin D levels and initial BMI, parathyroid hormone, and homeostatic model assessment of insulin resistance (r = −0.280, p < 0.05; r = −0.407, p = 0.038; r = −0.445, p = 0.005), respectively. VDD was significantly more prevalent in patients with higher BMI [−0.413 ± 0.12, CI95 % (−0.659; −0.167), p = 0.006], whereas no significant association between hypertension [−1.005 ± 1.65, CI95 % (−4.338; 2.326), p = 0.001], and diabetes type 2 (T2D) [−0.44 ± 2.20, CI95 % (−4.876; 3.986), p = 0.841] was found. We observed significant association between female sex and levels of vitamin D [6.69 ± 2.31, CI95 % (2.06; 11.33), p = 0.006]. The present study shows that in patients scheduled for BS, VDD deficiency is common and was associated with higher BMI, and female sex.


2017 ◽  
Vol 21 (2) ◽  
pp. 431-439 ◽  
Author(s):  
Hilal Yesil ◽  
Ulas Sungur ◽  
Sedef Akdeniz ◽  
Gulcan Gurer ◽  
Basak Yalcın ◽  
...  

Diagnostics ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1075
Author(s):  
Masliza Hanuni Mat Ali ◽  
Tuan Salwani Tuan Ismail ◽  
Wan Norlina Wan Azman ◽  
Najib Majdi Yaacob ◽  
Norhayati Yahaya ◽  
...  

Thyroid hormones have a catabolic effect on bone homeostasis. Hence, this study aimed to evaluate serum vitamin D, calcium, and phosphate and bone marker levels and bone mineral density (BMD) among patients with different thyroid diseases. This cross-sectional study included patients with underlying thyroid diseases (n = 64, hyperthyroid; n = 53 euthyroid; n = 18, hypothyroid) and healthy controls (n = 64). BMD was assessed using z-score and left hip and lumbar bone density (g/cm2). The results showed that the mean serum vitamin D Levels of all groups was low (<50 nmol/L). Thyroid patients had higher serum vitamin D levels than healthy controls. All groups had normal serum calcium and phosphate levels. The carboxy terminal collagen crosslink and procollagen type I N-terminal propeptide levels were high in hyperthyroid patients and low in hypothyroid patients. The z-score for hip and spine did not significantly differ between thyroid patients and control groups. The hip bone density was remarkably low in the hyperthyroid group. In conclusion, this study showed no correlation between serum 25(OH)D levels and thyroid diseases. The bone markers showed a difference between thyroid groups with no significant difference in BMD.


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