scholarly journals Polymorphism in Vitamin D-Binding Protein as a Genetic Risk Factor in the Pathogenesis of Endometriosis

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 < 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.

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 < 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.


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 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


Author(s):  
SARAH JAFAR AL-GHRAIBAWI ◽  
SAAD IBRAHIM AL-GHABBAN ◽  
RIYADH DHEYHOOD AL-ZUBAIDY

Objective: Vitamin D deficiency is a global health problem. It is significantly associated with skeletal and non-skeletal problems. Prevention can be maintained mainly by effective sun exposure or supplementation and to lesser extent by dietary intake. To determine the magnitude of knowledge and practice of women towards vitamin D deficiency. Methods: A cross-sectional study, purposive sample of 442 women were approached who attended consultants’ clinics of Imam Hussein Medical City in Karbala. Data collection done between March 2 and June 30, 2018 through direct interviews using a special questionnaire prepared for the purpose of the study. Results: Less than half (45.2%) of the women had heard about vitamin D; their source of information was from relatives and friends then from health care provider. The mean score for the participants’ knowledge about VDD was 4.25 out of 9.0 (47%). It has a significant association with higher educational levels and urban residence. There is no significant difference regarding age, marital status or occupation. The mean score for the participants’ practice about vitamin D deficiency was 2.53 out of 5 (50.71%). There is no influence of practice score by socio-demographic factors. Conclusion: Overall knowledge towards vitamin D deficiency was suboptimal. Improving practices towards VD is directly related to increase knowledge about it that indicates the need to increase public awareness about the problem, encourage appropriate way of sun exposure, consumption of vitamin D rich food and taking supplementation when sun exposure is difficult.


2017 ◽  
Vol 63 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Lorete Maria da Silva Kotze ◽  
◽  
Carolina Tabata Costa ◽  
Murilo Franco Cavassani ◽  
Renato Mitsunori Nisihara ◽  
...  

Summary Background: Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are characterized by chronic inflammation of the intestine that can reduce the absorption of nutrients such as vitamin D and calcium. Objective: To investigate bone alterations and serum levels of vitamin D in patients with IBD. Method: This was a cross-sectional study based on a review of medical records of patients from a private office in Curitiba, PR, Brazil. Serum levels of vitamin D and bone densitometry were measured at diagnosis of IBD. A total of 105 patients were included; 38 (58.4%) with CD; 27 (41.6%) with UC and 40 with irritable bowel syndrome (IBS) as comparison group. Results: When compared to patients with UC, CD patients showed a higher prevalence of bone alterations, being 15.8% with osteoporosis and 36.8% with osteopenia. In UC, bone alterations occurred in 29.6% of cases, 3.7% with osteoporosis and 25.9% with osteopenia. As for vitamin D levels, among CD patients, 10.5% had vitamin deficiency, 65.8% insufficiency and 23.7% were sufficient. In UC, 7.4% of cases had deficiency, 74.1% insufficiency and 18.5% had sufficient serum levels of vitamin D. In the group with IBS, deficiency was observed in 17.5% of cases, insufficiency in 55% and sufficiency in 27.5% of them. There was no significant difference between groups. Conclusion: IBD patients have a high prevalence of bone changes, especially those with CD. Serum levels of vitamin D are below the recommended in all the evaluated groups.


2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Yaron Arbel ◽  
Edo Y. Birati ◽  
Itzhak Shapira ◽  
Talya Finn ◽  
Shlomo Berliner ◽  
...  

Introduction.Different anthropometric variables have been shown to be related to cardiovascular morbidity and mortality. Our aim was to compare the association between different anthropometric measurements and inflammatory status.Methods and results.A cross-sectional study design in which we analyzed the data collected during a five-year period in the Tel Aviv Medical Center Inflammation Survey (TAMCIS). Included in the study were 13,033 apparently healthy individuals at a mean (SD) age of 43. Of these, 8,292 were male and 4,741 female. A significant age-adjusted and multiple-adjusted partial correlation was noted between all anthropometric measurements and all inflammatory biomarkers. There was no significant difference in the correlation coefficients between different biomarkers and anthropometric variables.Conclusion.Most of the common used anthropometric variables are similarly correlated with inflammatory variables. The clinician can choose the variable that he/she finds easiest to use.


Sign in / Sign up

Export Citation Format

Share Document