The Association between Vitamin D Deficiency and variants of Vitamin D Binding protein gene among Healthy Iranian Adults

2020 ◽  
Vol 90 (3-4) ◽  
pp. 249-256
Author(s):  
Sara Pooyan ◽  
Mohammad Hossein Rahimi ◽  
Mehdi Mollahosseini ◽  
Leila Khorrami-nezhad ◽  
Zhila Maghbooli ◽  
...  

Abstract. Background: The high prevalence of vitamin D deficiency may be due to both genetic and environment factors. The aim of this study was to demonstrate that vitamin D deficiency may be due to variants of vitamin D binding protein ( DBP) among otherwise healthy Iranian adults. Methods: This cross-sectional study was conducted on 265 healthy adults in Tehran. Anthropometric and biochemical parameters were assessed. Dietary vitamin D intake was assessed with a Food Frequency Questionnaire (FFQ), and participant DBP genotypes were determined by polymerase chain reactions – restriction fragment length polymorphism. Results: Significant associations were found between vitamin D status and low-density lipoprotein cholesterol (P < 0.001), total cholesterol (P < 0.001), and fasting blood sugar (P < 0.001), after adjustment for confounder factors. This study demonstrated that “rs7041” gene was associated with vitamin D deficiency (OR = 0.63, β ± SE = −0.46 ± 0.14, P < 0.0001). After considering the “GG” genotype of the “rs7041” polymorphism as a reference, the prevalence of vitamin D deficiency was found to be higher in the individuals with “TT” genotype from the “rs7041” polymorphism. Conclusion: It was found that the prevalence of vitamin D deficiency was higher in individuals with T allele carriers in the “rs7041” polymorphism.

2020 ◽  
Author(s):  
Siew-Siew Lee ◽  
King-Hwa Ling ◽  
Maiza Tusimin ◽  
Raman Subramaniam ◽  
Kartini Farah Rahim ◽  
...  

Abstract Background: Vitamin D deficiency (VDD) has been related to vitamin D binding protein (GC) gene polymorphism, demographics and lifestyle factors in different populations. However, previous studies only focused on demographic and lifestyle factors or genetic factors alone. Therefore, this cross-sectional study aimed to assess the association between GC gene polymorphism, demographics and lifestyle factors with VDD among Malaysian pregnant women. Method: Information on demographic characteristics, dietary vitamin D intake from supplement and food, time spent outdoors, skin type and clothing were collected using questionnaire. Plasma total 25-hydroxyvitamin D (25OHD) levels were measured using a Ultra-High-Performance Chromatography (UHPLC). Maternal GC single nucleotide polymorphisms (SNPs) (rs4588 and rs7041) were determined using restriction fragment length polymorphism (RFLP) technique. Results: Results showed that 50.2% of pregnant women were vitamin D deficient (25OHD <30 nmol/L). VDD (25OHD <30 nmol/L) was significantly associated with age, veiled clothing, maternal vitamin D intakes, from both food and supplements, and GC rs7041(and GC diplotypes). In contrast to previous studies that reported for non-pregnant population, significant positive association was found between CC genotype for SNP GC rs7041, GC 1s-1s and GC If-2 with risk of VDD (25OHD <30 nmol/L). Conclusions: The high prevalence of maternal VDD found in this study suggests the need for urgent development and implementation of vitamin D supplementation or fortification strategies to reduce VDD among pregnant women. The discrepancy in the association between GC rs7041 gene polymorphism and VDD reflects the variation in the factors associated with VDD in pregnancy compared to non-pregnant state


2010 ◽  
Vol 31 (6) ◽  
pp. 943-944
Author(s):  
Klaus Faserl ◽  
Georg Golderer ◽  
Leopold Kremser ◽  
Herbert Lindner ◽  
Bettina Sarg ◽  
...  

Context Previous studies have implicated a deficiency in the inflammatory response in women who develop endometriosis. The specific immunological deficits have not been completely elucidated. Objective Our objective was to identify differences in protein expression in serum that might shed light on the pathophysiology of endometriosis. Design and Setting This cross-sectional study of women undergoing laparoscopy between 2003 and 2005 took place at a university medical center. Patients Patients included consenting women age 18-49 yr undergoing surgery for pain and/or infertility or elective tubal ligation. Women with acute or chronic medical conditions were excluded. Intervention Blood was collected preoperatively. Main Outcome Measure Proteomic analysis of serum was done using two-dimensional difference gel electrophoresis. Results We found 25 protein spots with a significant difference in abundance between women with endometriosis and controls, including acute-phase proteins and complement components. The abundance of vitamin D-binding protein was higher in all endometriosis pools by a factor of approximately 3 compared with the control pool (P &lt; 0.02). Analysis of specific allele products using nano-LC-ESI-MS indicated that it was the GC*2 allele product that was in greater concentration in serum pools, as well as in single validation samples, in women with endometriosis (P = 0.006). In contrast to the GC*1 allele product, which is readily converted to a potent macrophage factor (Gc protein-derived macrophage-activating factor), the GC*2 allele product undergoes practically no such conversion. Conclusions We speculate that the inability to sufficiently activate macrophages’ phagocytotic function in those carrying the GC*2 polymorphism (more prevalent in endometriosis) may allow endometriotic tissues to implant in the peritoneal cavity. Future studies evaluating specific vitamin D-binding protein polymorphisms as a risk factor for endometriosis in larger populations of women are warranted.


2020 ◽  
Author(s):  
Siew-Siew Lee ◽  
King-Hwa Ling ◽  
Maiza Tusimin ◽  
Raman Subramaniam ◽  
Kartini Farah Rahim ◽  
...  

Abstract Background: Vitamin D deficiency (VDD) has been related to vitamin D binding protein (GC) gene polymorphism, demographics and lifestyle factors in different populations. However, previous studies only focused on demographic and lifestyle factors or genetic factors alone. Therefore, this cross-sectional study aimed to assess the association between GC gene polymorphism, demographics and lifestyle factors with VDD among Malaysian pregnant women.Method: Information on demographic characteristics, dietary vitamin D intake from supplement and food, time spent outdoors, skin type and clothing were collected using questionnaire. Plasma total 25-hydroxyvitamin D (25OHD) levels were measured using a Ultra-High-Performance Chromatography (UHPLC). Maternal GC single nucleotide polymorphisms (SNPs) (rs4588 and rs7041) were determined using restriction fragment length polymorphism (RFLP) technique.Results: Results showed that 50.2% of pregnant women were vitamin D deficient (25OHD <30 nmol/L). VDD (25OHD <30 nmol/L) was significantly associated with age, veiled clothing, maternal vitamin D intakes, from both food and supplements, and GC rs7041(and GC diplotypes). In contrast to previous studies that reported for non-pregnant population, significant positive association was found between CC genotype for SNP GC rs7041, GC 1s-1s and GC If-2 with risk of VDD (25OHD <30 nmol/L). Conclusions: The high prevalence of maternal VDD found in this study suggests the need for urgent development and implementation of vitamin D supplementation or fortification strategies to reduce VDD among pregnant women. The discrepancy in the association between GC rs7041 gene polymorphism and VDD reflects the variation in the factors associated with VDD in pregnancy compared to non-pregnant state


Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1573
Author(s):  
Martina Oriano ◽  
Stefano Aliberti ◽  
Franca Rosa Guerini ◽  
Cristina Agliardi ◽  
Carlotta Di Francesco ◽  
...  

Vitamin D modulates immune responses and its deficiency has been observed in more than 60% of bronchiectasis patients. Vitamin D binding protein (DBP) is coded by the GC gene, is involved in the transport of vitamin D, and includes a number of isoforms based on single nucleotide polymorphisms (SNPs) in the coding region at rs7041 and rs4855. We evaluated the possible clinical impact of DBP polymorphisms and isoforms in an observational, cross-sectional study conducted in 116 bronchiectasis patients, who were genetically characterized for rs4588 and rs7041 SNPs. Results showed that the GC1f isoform (rs7041/rs4588 A/G) correlated with a more severe disease (18.9% vs. 6.3%, p = 0.038), a higher incidence of chronic infections (63.6% vs. 42%, p = 0.041), and a lower BACI score (0.0 (0.0, 2.5) vs. 3.0 (0.0, 3.0), p = 0.035). Moreover, blood concentration of vitamin D was higher in patients carrying GC1s (median (IQR): 20.5 (14.3, 29.7 vs. 15.8 (7.6, 22.4), p = 0.037). Patients carrying GC1f isoform have a more severe disease, more chronic infections and lower asthmatic comorbidity in comparison to those without the GC1f isoform. Presence of the GC1s isoform (rs7041/rs4588 C/G) seems to be associated to a milder clinical phenotype with increased vitamin D levels and lower comorbidities score.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Siew-Siew Lee ◽  
King-Hwa Ling ◽  
Maiza Tusimin ◽  
Raman Subramaniam ◽  
Kartini Farah Rahim ◽  
...  

Abstract Background Vitamin D deficiency (VDD) has been related to vitamin D binding protein (GC) gene polymorphism, demographics and lifestyle factors in different populations. However, previous studies only focused on demographic and lifestyle factors or genetic factors alone. Therefore, this cross-sectional study aimed to assess the association between GC gene polymorphism, demographics and lifestyle factors with VDD among Malaysian pregnant women. Method Information on demographic characteristics, dietary vitamin D intake from supplement and food, time spent outdoors, skin type and clothing were collected using a questionnaire. Plasma total 25-hydroxyvitamin D (25OHD) levels were measured using an Ultra-High-Performance Liquid Chromatography (UHPLC). Maternal GC single nucleotide polymorphisms (SNPs) (rs4588 and rs7041) were determined using restriction fragment length polymorphism (RFLP) technique. Results Results showed that 50.2% of pregnant women were vitamin D deficient (25OHD < 30 nmol/L). VDD (25OHD < 30 nmol/L) was significantly associated with age, veiled clothing, maternal vitamin D intakes from both food and supplements, and GC rs7041(and GC diplotypes). In contrast to previous studies that reported for non-pregnant population, a significant positive association was found between CC genotype for SNP GC rs7041, GC 1s–1s and GC If-2 with risk of VDD (25OHD < 30 nmol/L). Conclusions The high prevalence of maternal VDD found in this study suggests the need for urgent development and implementation of vitamin D supplementation or fortification strategies to reduce VDD among pregnant women. The discrepancy in the association between GC rs7041 gene polymorphism and VDD reflects the variation in the factors associated with VDD in pregnancy compared to non-pregnant state.


Endocrinology ◽  
2010 ◽  
Vol 151 (12) ◽  
pp. 5971-5972
Author(s):  
Klaus Faserl ◽  
Georg Golderer ◽  
Leopold Kremser ◽  
Herbert Lindner ◽  
Bettina Sarg ◽  
...  

Context: Previous studies have implicated a deficiency in the inflammatory response in women who develop endometriosis. The specific immunological deficits have not been completely elucidated. Objective: Our objective was to identify differences in protein expression in serum that might shed light on the pathophysiology of endometriosis. Design and Setting: This cross-sectional study of women undergoing laparoscopy between 2003 and 2005 took place at a university medical center. Patients: Patients included consenting women age 18-49 yr undergoing surgery for pain and/or infertility or elective tubal ligation. Women with acute or chronic medical conditions were excluded. Intervention: Blood was collected preoperatively. Main Outcome Measure: Proteomic analysis of serum was done using two-dimensional difference gel electrophoresis. Results: We found 25 protein spots with a significant difference in abundance between women with endometriosis and controls, including acute-phase proteins and complement components. The abundance of vitamin D-binding protein was higher in all endometriosis pools by a factor of approximately 3 compared with the control pool (P &lt; 0.02). Analysis of specific allele products using nano-LC-ESI-MS indicated that it was the GC*2 allele product that was in greater concentration in serum pools, as well as in single validation samples, in women with endometriosis (P = 0.006). In contrast to the GC*1 allele product, which is readily converted to a potent macrophage factor (Gc protein-derived macrophage-activating factor), the GC*2 allele product undergoes practically no such conversion. Conclusions: We speculate that the inability to sufficiently activate macrophages’ phagocytotic function in those carrying the GC*2 polymorphism (more prevalent in endometriosis) may allow endometriotic tissues to implant in the peritoneal cavity. Future studies evaluating specific vitamin D-binding protein polymorphisms as a risk factor for endometriosis in larger populations of women are warranted.


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