scholarly journals Association of SNPs in GC and CYP2R1 with Total and Directly Measured Free 25-hydroxyvitamin D in Multi-ethnic Postmenopausal Women in Saudi Arabia(Genetic Variants in Vitamin D Metabolic Pathways in Families with Vitamin D Deficiency)

Author(s):  
Shatha Alharazy ◽  
Muhammad Imran Naseer ◽  
Eman Alissa ◽  
Margaret Denise Robertson ◽  
Susan Lanham-New ◽  
...  
2012 ◽  
Vol 1 (1) ◽  
pp. 13-21 ◽  
Author(s):  
Ranganathan R Rao ◽  
Harpal S Randeva ◽  
Sailesh Sankaranarayanan ◽  
Murthy Narashima ◽  
Matthias Möhlig ◽  
...  

Introduction/backgroundVitamin D deficiency further increases circulating parathyroid hormone (PTH) levels in patients with primary hyperparathyroidism (pHPT), with potential detrimental effects on bone mass.MethodsThis was an observational clinical study in consecutive conservatively treated postmenopausal women (n=40) with pHPT and coexistent 25-hydroxyvitamin D deficiency (25OHD ≤50 nmol/l (≤20 ng/ml)). Patients who showed an increase in serum 25OHD above the threshold of vitamin D deficiency (>50 nmol/l; n=28) using treatment with various commonly prescribed vitamin D preparations were, for the purposes of statistical analyses, allocated to the treatment group. Patients who were retrospectively identified as having received no treatment with vitamin D and/or remained vitamin D deficient were considered as non-responders/controls (n=12). Adjusted calcium (adjCa), PTH and 25OHD concentrations were monitored in all subjects up to 54 months (mean observation period of 18±2 months).ResultsProlonged increased vitamin D intake, regardless of the source (serum 25OHD, increase from 32.2±1.7 nmol/l at baseline to 136.4±11.6 nmol/l, P<0.0001), significantly reduced serum PTH (13.3±1.1 vs 10.5±1.0 pmol/l, P=0.0001), with no adverse effects on adjCa levels (2.60±0.03 vs 2.60±0.02 mmol/l, P=0.77) and renal function tests (P>0.73). In contrast, serum PTH remained unchanged (15.8±2.6 vs 16.3±1.9 pmol/l, P=0.64) in patients who remained vitamin D deficient, with a significant difference between groups in changes of PTH (P=0.0003). Intrapartial correlation analyses showed an independent negative correlation of changes in 25OHD with PTH levels (ric=−0.41, P=0.014).ConclusionsProlonged treatment with vitamin D in various commonly prescribed preparations appeared to be safe and significantly reduced PTH levels by 21%.


Nutrients ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 3680
Author(s):  
Fatme Al-Anouti ◽  
Mira Mousa ◽  
Spyridon N. Karras ◽  
William B. Grant ◽  
Zainab Alhalwachi ◽  
...  

Vitamin D has many effects on cells in the immune system. Many studies have linked low vitamin D status with severity of COVID-19. Genetic variants involved in vitamin D metabolism have been implicated as potential risk factors for severe COVID-19 outcomes. This study investigated how genetic variations in humans affected the clinical presentation of COVID-19. In total, 646 patients with SARS-CoV-2 infection were divided into two groups: noncritical COVID-19 (n = 453; 70.12%) and a critical group (n = 193; 29.87%). Genotype data on the GC, NADSYN1, VDR, and CYP2R1 genes along with data on serum 25-hydroxyvitamin D levels were compiled in patients admitted to a major hospital in the United Arab Emirates between April 2020 and January 2021. We identified 12 single-nucleotide polymorphisms associated with the critical COVID-19 condition: rs59241277, rs113574864, rs182901986, rs60349934, and rs113876500; rs4944076, rs4944997, rs4944998, rs4944979, and rs10898210; and rs11574018 and rs11574024. We report significant associations between genetic determinants of vitamin D metabolism and COVID-19 severity in the UAE population. Further research needed to clarify the mechanism of action against viral infection in vitamin D deficiency. These variants could be used with vaccination to manage the spread of SARS-CoV-2 and could be particularly valuable in populations in which vitamin D deficiency is common.


2012 ◽  
Vol 16 (3) ◽  
pp. 544-548 ◽  
Author(s):  
Raed M Kanan ◽  
Yousef M Al Saleh ◽  
Hana M Fakhoury ◽  
Maysoon Adham ◽  
Saleh Aljaser ◽  
...  

AbstractObjectiveThe aim of the present study was to investigate vitamin D status among female out-patients in Saudi Arabia during the summer and winter seasons.DesignData were retrospectively collected using medical record abstraction.SettingA multidisciplinary hospital in Riyadh between January and December 2009.SubjectsSaudi females (age ≥19 years;n1556) attending out-patient clinics for various complaints comprised the studied population. The population was subdivided into two groups depending on the date of their visit where blood samples were collected: summer (n659) and winter groups (n897). The summer group was further subdivided into premenopausal (age 19–49 years;n425) and postmenopausal subgroups (age ≥50 years;n234). Similarly, the winter group was subdivided into premenopausal (n543) and postmenopausal subgroups (n354). Serum levels of 25-hydroxyvitamin D (25(OH)D) were measured using HPLC.ResultsThe prevalence of vitamin D deficiency (25(OH)D <50 nmol/l) was high in both premenopausal and postmenopausal groups (80 % and 68 %, respectively) during the summer, as well as during the winter (85 % and 76 %, respectively).ConclusionsA high prevalence of vitamin D deficiency among Saudi female out-patients was observed throughout the year despite the routine supplementation with 10–20 μg vitamin D3for postmenopausal women. Clinicians should seriously consider determining the vitamin D status of Saudi females routinely and prescribing them proper supplementation.


2019 ◽  
Vol 12 ◽  
pp. 117955141882515 ◽  
Author(s):  
Abdullah M Al Zahrani ◽  
Adnan Al Shaikh

Objective: To determine the glycemic control and cardio-metabolic complications of children and adolescents with type 1 diabetes mellitus (T1DM) attending a tertiary care diabetes clinic in Saudi Arabia. Methods: We conducted a retrospective cross-sectional study of children and adolescents with T1DM attending King Abdulaziz Medical City-Jeddah from 2010 to 2013. We assessed their glycemic control and diabetes management. Vitamin D status was compared with glycemic control and gender differences. Results: We identified 301 subjects (53.5% females); mean age was 13.9 ± 3.8 years. The mean duration of diabetes was 7.7 ± 3.7 years, body mass index (BMI) was 21.1 ± 4.5 kg/m2, and hemoglobin A1c (HbA1c) was 9.6% ± 1.9% in both genders. There were modest gender-specific differences in Saudi patients with T1DM, with males having more symptoms than females. Mean age at diagnosis of T1DM was slightly younger in males (6.01 ± 3.65 years) than in females (6.33 ± 3.45 years). Education was the most common reason for admission in males (32.9%), whereas diabetic ketoacidosis (DKA) was the most common reason in females (38.8%). Frequency of symptomatic hypoglycemic attacks was relatively higher in males (47.1%) than in females (42.9%). The majority of our patients (83%) were on intensive insulin regimen, having 4 injections or more per day. The remaining (17%) were on conventional insulin therapy. Only 26.2% had satisfactory HbA1c (⩽8%). The mean level of 25-hydroxyvitamin D was 35.15 ± 15.9 nmol/L and cholesterol was 4.75 ± 1.1 nmol/L. Vitamin D deficiency (25-hydroxyvitamin D ⩽ 37.5 nmol/L) was detected in 63.6% males and 67.7% females. No significant correlation between HbA1c and vitamin D deficiency was observed. Conclusions: Metabolic control among Saudi children with T1DM is less satisfactory compared with other countries. The high prevalence of vitamin D deficiency in this population supports the recommendation of vitamin D supplementation in T1DM subjects. Further studies in a larger cohort are needed to confirm our findings.


2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 554-554 ◽  
Author(s):  
P. Lonning ◽  
J. Geisler ◽  
L. E. Krag ◽  
E. Løkkevik ◽  
T. Risberg ◽  
...  

554 Background: To evaluate potential detrimental effects of the aromatase inactivator exemestane on bone, 147 postmenopausal women with early breast cancer were randomised to receive either exemestane for 2 years or placebo (J. Clin. Oncol. 23 [22], 5126–5137, 2005). Exemestane increased the annual bone loss from the femoral neck (2.72%) compared to placebo (1.48%; P = 0.024) with a non-significant increase in the lumbar spine (exemestane 2.17% versus placebo 1.84%). The annual bone loss was higher than expected in the placebo arm. Methods: Various biomarkers involved in bone metabolism (25-hydroxyvitamin D, parathormone, calcium, estrogens, androgens) were analysed to elucidate their influence on bone status at baseline and BMD loss during treatment with exemestane compared to placebo. Results: Using a cut-off value of 30 ng/ml for 25-hydroxyvitamin D (J. Clin. Endocrinol. Metab. 90 [6], 3800–3801, 2005), the majority of study participants suffered from vitamin D deficiency (56 of 62 patients in the placebo group and 52 of 59 in the exemestane group). The mean levels (95% confidence interval) of vitamin D were 22.6 ng/ml (21.2 - 24.1) in the placebo group and 21.6 ng/ml (20.0 - 23.3) in the treatment group, revealing no differences between these groups. Low serum calcium levels at baseline were found to be significantly correlated to low BMD in the femoral neck in the exemestane group. However, individual levels of vitamin D, parathormone and estradiol at baseline were not correlated significantly to BMD. Conclusions: Considering an annual bone loss of 0.5% to be representative for postmenopausal women (Osteoporos. Int. 15, 881–886, 2004), our data indicate that vitamin D deficiency could be the most important factor elevating bone loss among patients treated with exemestane as well as in the placebo group. These findings, together with the observation of a moderate additional effect of exemestane on bone loss, underlines the need for proper vitamin D substitution of postmenopausal women in general and in breast cancer patients during treatment with aromatase inhibitors in particular. [Table: see text]


2019 ◽  
Vol 16 (4) ◽  
pp. 340-347
Author(s):  
Yuge Wang ◽  
Yanqiang Wang ◽  
Bingjun Zhang ◽  
Yinyao Lin ◽  
Sha Tan ◽  
...  

Background and Objective: Vitamin D deficiency is internationally recognized among the potentially modifiable risk factors for ischemic cardio-cerebrovascular diseases. However, the association between vitamin D deficiency and stroke morbidity or mortality remains insufficiently known. Our aim is to investigate their relevance to 25-hydroxyvitamin D [25(OH) D] levels and clinical severity and outcome after 3 months in first-ever ischemic stroke. Methods: Retrospective analysis of 356 consecutive patients in first-ever ischemic stroke between 2013 and 2015. Serum 25(OH) D levels were measured at baseline. Stroke severity was assessed at admission using the National Institutes of Health Stroke Scale (NIHSS) score. Functional outcome after 3 months of onset was evaluated using the modified Rankin scale (mRS). Results: Among the 356 enrolled patients, HbA1c was higher in insufficiency/deficiency group than that in the sufficiency group (6.3 ± 1.7 vs. 5.9 ± 1.1, p =0.015). The hospital stay was longer in insufficiency/deficiency group than that in the sufficiency group (11 (8-17) vs. 9.5 (7-13), p = 0.035). There was a significant inversed trend between serum 25(OH) D levels and hospital stay (OR 0.960, P = 0.031), using logistic regression. Conclusions: 25(OH)D levels are associated with glucose homeostasis, 25(OH) D contributes to increase the length of hospital stay. Low serum 25-OHD level is an independent predictor for hospital stay in first-ever ischemic stroke. Vitamin D deficiency did not predict functional outcome in the span of 3 months.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jing Xiao ◽  
Jingyi Lv ◽  
Shiyu Wang ◽  
Yang Zhou ◽  
Lunwen Chen ◽  
...  

Abstract Background Vitamin D deficiency has been associated with type 2 diabetes (T2D) and metabolic syndrome (MS) and its components. However, it is unclear whether a low concentration of vitamin D is the cause or consequence of these health conditions. Thus, this study aimed to evaluate the association of vitamin D concentrations and its genetic risk scores (GRSs) with MS and its component diseases, such as T2D, in middle-aged and elderly participants from rural eastern China. Methods A subset of 2393 middle-aged and elderly individuals were selected from 70,458 participants of the Nantong Chronic Diseases Study of 2017–2018 in China. We used two 25-hydroxyvitamin D (25[OH]D) synthesis single-nucleotide polymorphisms (SNPs) (DHCR7-rs12785878 and CYP2R1-rs10741657) and two 25(OH) D metabolism SNPs (GC-rs2282679 and CYP24A1-rs6013897) for creating GRSs, which were used as instrumental variables to assess the effect of genetically lowered 25(OH) D concentrations on MS and T2D based on the Wald ratio. F statistics were used to validate that the four SNPs genetically determined 25(OH) D concentrations. Results Compared to vitamin D sufficient individuals, individuals with vitamin D insufficiency had an odds ratio (OR [95% confidence interval {CI}]) of MS of 1.30 (1.06–1.61) and of T2D of 1.32 (1.08–1.64), individuals with vitamin D deficiency had an ORs (95% CI) of MS of 1.50 (1.24–1.79) and of T2D of 1.47 (1.12–1.80), and those with vitamin D severe deficiency had an ORs (95% CI) of MS of 1.52 (1.29–1.85) and of T2D of 1.54 (1.27–1.85). Mendelian randomization analysis showed a 25-nmol/L decrease in genetically instrumented serum 25(OH) D concentrations using the two synthesis SNPs (DHCR7 and CYP2R1 genes) associated with the risk of T2D and abnormal diastolic blood pressure (DBP) with ORs of 1.10 (95%CI: 1.02–1.45) for T2D and 1.14 (95%CI: 1.03–1.43) for DBP. Conclusions This one sample Mendelian randomization analysis shows genetic evidence for a causal role of lower 25(OH) D concentrations in promoting of T2D and abnormal DBP in middle-aged and elderly participants from rural China.


2021 ◽  
Vol 53 (02) ◽  
pp. 105-111
Author(s):  
Dongdong Zhang ◽  
Cheng Cheng ◽  
Yan Wang ◽  
Yuan Xue ◽  
Yiming Liu ◽  
...  

AbstractThere is a paucity of data on the relation between serum 25-hydroxyvitamin D [25(OH)D] concentration and cardiometabolic biomarkers in the Chinese population. To comprehensively and quantitatively examine the association of 25(OH)D and cardiometabolic traits, we conducted a cross-sectional study in the Chinese rural population. Serum 25(OH)D and eight cardiometabolic biomarkers were measured in 1714 individuals from Henan province, China. Scatter plot was used to visualize the distribution and correlation of 25(OH)D and cardiometabolic indicators. Moreover, multivariate linear regressions and restricted cubic spline (RCS) functions were performed to examine the quantitative association between the serum 25(OH)D and cardiometabolic parameters. The median serum 25(OH)D level was 19.94 ng/ml in all participants, with an estimated 50.12% presenting vitamin D deficiency. Serum 25(OH)D level showed significantly modest association with cardiometabolic parameters (p<0.05) except for diastolic blood pressure (r=0.03, p=0.22). Multiple linear regression models showed that 25(OH)D concentration was positively associated with high-density lipoprotein cholesterol (HDL-C) and negatively associated with low-density lipoprotein cholesterol (LDL-C) and fasting serum glucose (GLU). The results of restricted cubic spline models indicated a positively linear association of 25(OH)D with HDL-C (p for overall<0.001, p for nonlinearity=0.191) and a negatively linear association with GLU (p for overall=0.024, p for nonlinearity=0.095). Overall, vitamin D deficiency was very common among Chinese rural population living near the 34 degrees north latitude. Besides, there were significant association between 25(OH)D concentrations and cardiometabolic biomarkers including HDL-C and GLU levels. Future longitudinal studies and randomized trials are warranted to clarify the causal relationship.


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