scholarly journals Polymorphisms of the Vitamin D Receptor Gene in Crohn Disease

Author(s):  
Bhettina Vieira Lopes ◽  
Vitor Linhares Ribeiro ◽  
Larissa de Oliveira Rosa Marques ◽  
Liliane Emilly dos Santos Sousa ◽  
Jacqueline Andréia Bernardes Leão-Cordeiro ◽  
...  

Abstract Introduction Crohn disease (CD) and ulcerative colitis (UC) are chronic inflammatory conditions of the gastrointestinal tract. Studies have shown that polymorphisms of the vitamin D receptor (VDR) gene may help elucidate the pathogenesis of CD. Objectives To analyze the role of VDR gene polymorphisms (ApaI, BsmI, FokI, and TaqI) in the development of CD. Methods The present study is a systematic review with meta-analysis. a total of 50 articles in English and Portuguese published from 2000 to 2020 were selected from 3 databases. The relationship between CD and the VDR gene was addressed in 16 articles. Results The TaqI polymorphism was analyzed in 3,689 patients and 4,645 control subjects (odds ratio [OR] = 0.948; 95% confidence interval [95%CI] = 0.851–1.056; p = 0.3467). The ApaI polymorphism was studied in 3,406 patients and 4,415 control subjects (OR = 1,033; 95%CI = 0.854–1.250; p = 0.7356). For FokI polymorphism, there were 2,998 patients and 4,146 control subjects (OR = 0.965; 95%CI = 0.734–1.267; p = 0.7958). Lastly, the BsmI polymorphism was analyzed in 2,981 patients and 4,477 control subjects (OR = 1,272; 95%CI = 0.748–2.161; p = 0.3743). Conclusion These four VDR gene polymorphisms were not associated with CD. Therefore, further studies with larger samples are required to corroborate or rectify the conclusions from the present meta-analysis.

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Lukasz Laczmanski ◽  
Izabela Laczmanska ◽  
Felicja Lwow

Abstract The observed increase in morbidity and mortality due to tobacco-related cancers, especially those in the respiratory system and esophagus, is becoming a public health challenge. Smoking cigarettes is one of the main risk factors predisposing individuals to many types of cancers. The aim of this study was to determine the role of select vitamin D receptor (VDR) gene polymorphisms as risk factors in tobacco-related cancers. The MEDLINE and ResearchGate databases were used to search for articles up to June 2017, and 12 articles including 26 studies concerning FokI, ApaI, TaqI and BsmI polymorphisms and lung, neck, head, esophageal and oral cancers were chosen. In total, 5 113 cases and 5 657 controls were included in the pooled analysis. We found a significant relationship between tobacco-related cancers and the occurrence of the “t” allele in the TaqI polymorphism of VDR. The occurrence of the “t” allele reduced the risk of tobacco-related cancers by 17% (OR = 0.83, 0.72–0.96 95% CI, p-value = 0.0114). Our analysis revealed that there is a correlation between the TaqI polymorphism of VDR and the risk of tobacco-related cancers.


Rheumatology ◽  
2020 ◽  
Author(s):  
Hui-Min Li ◽  
Yi Liu ◽  
Ren-Jie Zhang ◽  
Jing-Yu Ding ◽  
Cai-Liang Shen

Abstract Objective To investigate the association of vitamin D receptor (VDR) gene polymorphisms with OA susceptibility. Methods Meta-analyses were performed using allelic contrast, contrast of homozygotes, and recessive and dominant models to clarify the association between OA and VDR ApaI, BsmI, TaqI and FokI polymorphisms. Odds ratio (OR) and the corresponding 95% CI were obtained, and subgroup analyses were performed based on the ethnicity and OA sites. Results A total of 18 studies with 2983 OA patients and 4177 controls were included in this meta-analysis. There were statistically significant associations in the spine between OA susceptibility and the VDR BsmI (B vs b: OR = 1.25, 95% CI: 1.03, 1.53, P = 0.026; BB vs bb: OR = 1.56, 95% CI: 1.02, 2.37, P = 0.038) and TaqI (T vs t: OR = 0.73, 95% CI: 0.54, 0.99, P = 0.044; TT vs Tt + tt: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028) polymorphisms, but not for the other polymorphisms. A statistically significant association was found between the VDR FokI polymorphism and OA susceptibility in the knee in the recessive model contrast (FF vs Ff + ff: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028), but this result was only pooled from one study. However, no significant associations were found between the VDR ApaI polymorphism and OA. Besides, ethnic stratification also indicated that there was no significant association between VDR gene polymorphism and OA in Caucasians or Asians. Conclusion Our meta-analysis suggests that the VDR BsmI and TaqI polymorphisms are associated with OA susceptibility in the spine. However, the VDR ApaI polymorphism is not a significant genetic risk factor for OA.


Author(s):  
Ayse Kaman ◽  
Fatma Nur Öz ◽  
Gülseren Sahin ◽  
Özge Metin Akcan

Abstract Objective The vitamin D receptor gene (VDR) polymorphisms and the risk of various infections have been studied. An association with brucellosis and vitamin D levels has been investigated but not yet with VDR gene polymorphisms. We aimed to examine the association between VDR gene polymorphisms and susceptibility to childhood brucellosis. Methods This case–control study included patients with brucellosis and healthy controls. After extracting genomic DNA using a Qiagen blood DNA isolation kit, five VDR single nucleotide polymorphisms (SNPs), including Cdx-2, FokI, BsmI, ApaI, and TaqI gene, were amplified. Genetic distribution of these SNPs of VDR gene in patient and control groups were compared. Results A total of 38 patients with brucellosis and 89 healthy controls were evaluated. The genotype distribution of Cdx2, FokI, BsmI, and ApaI polymorphisms were similar between patients and healthy controls. However, the CC homozygous genotype for VDR gene TaqI was significantly overexpressed in patients compared with controls (23.7 vs. 7.9%; p = 0.042). The frequency of the C allele of the TaqI genotype was significantly different between patients and controls (p = 0.018). On the other hand, presence of the A allele in the BsmI was associated considerably with an increased risk of brucellosis (p = 0.037). VDR polymorphism distribution was similar according to age, presence of complicated disease, and presence of bacteremia. The heterozygote TaqI polymorphism was more common in patients presented as subacute and chronic symptoms (p = 0.036). Conclusion Our results indicated the possible role in TaqI polymorphism of the VDR gene for the risk of brucellosis at the time of exposure to infection.


2005 ◽  
Vol 21 (4) ◽  
pp. 191-197 ◽  
Author(s):  
Duygu Gezen Ak ◽  
Hakkí Kahraman ◽  
Erdinç Dursun ◽  
Belgin Süsleyici Duman ◽  
Nevin Erensoy ◽  
...  

Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p= 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.


2020 ◽  
Author(s):  
Masoud Hassanzadeh Makoui ◽  
Saeed Aslani ◽  
Payam Mohammadi ◽  
Bahman Razi ◽  
danyal imani

Abstract Objective The association between the vitamin D receptor ( VDR ) gene polymorphisms and the risk of Type 1 diabetes mellitus (T1DM) has been evaluated in several studies. However, the findings were inconclusive. Thus, we conducted a meta-analysis to comprehensively evaluate the effect of VDR gene polymorphisms on the risk of T1DM.Methods All relevant studies reporting the association between VDR gene polymorphisms and susceptibility to T1DM published up to July 2019 were identified by comprehensive systematic database search in web of science, Scopus, and PubMed. Strength of association were assessed by calculating of pooled odds ratios (ORs) and 95% confidence intervals (CIs). The methodological quality of each study was assessed according to the Newcastle–Ottawa Scale. Subgroup analysis stratified by ethnicity was also conducted.Results A total of 40 case–control studies were included in this meta-analysis. The results of overall population rejected any significant association between VDR gene polymorphisms and T1DM risk. However, the pooled results of subgroup analysis revealed significant negative and positive associations between FokI and BsmI genes polymorphism and T1DM in African and American populations, respectively.Conclusions This meta-analysis suggested a significant association between VDR gene polymorphism and T1DM susceptibility in ethnic-specific analysis.


Author(s):  
Ebtesam Mohamed Fahmy ◽  
Mohamed Elsayed Elawady ◽  
Sahar Sharaf ◽  
Sarah Heneidy ◽  
Rania Shehata Ismail

Abstract Background Accumulating data have suggested that vitamin D receptor (VDR) gene is a pretender gene for vulnerability to Parkinson disease (PD). This study aimed to assess the relationship of VDR gene polymorphisms (FokI and ApaI) with PD. Fifty patients suffering from PD and 50 age- and sex-matched healthy controls were included. Unified Parkinson Disease Rating Scale (UPDRS) was done to assess disease severity. Genetic testing for VDR gene single nucleotide polymorphisms (FokI and ApaI) was done using real time polymerase chain reaction (PCR) technique. Results Concerning frequency of genes and alleles for vitamin D receptor gene polymorphisms (FokI and ApaI), no statistically significant difference was found between PD patients and controls. AC genotype was associated with younger age and younger age at onset of disease compared to CC and AA genotypes of ApaI gene polymorphisms. CC genotype was significantly positively correlated with fatigue and urine incontinence. VDR gene polymorphisms were not found to be independent predictors for severity of PD after adjustment for possible confounders. Conclusion VDR gene polymorphisms are related to the clinical manifestations rather than etiology or severity of idiopathic PD.


2020 ◽  
Author(s):  
Maryam Ghodsi ◽  
Abbas Ali Keshtkar ◽  
Farideh Razi ◽  
Mahsa Mohammad Amoli ◽  
Ensieh Nasli-Esfahani ◽  
...  

Abstract Background Diabetes, osteoporosis, and Vitamin D deficiency are interrelated. The association of the Vitamin D receptor (VDR) gene with bone density is not established in different populations. This study analyze the association between five VDR gene polymorphisms (Fok1 (rs2228570), Taq1 (rs731236), Bsm1 (rs1544410), Apa1 (rs7975232), and EcoRV (rs4516035)) and the occurrence of low bone density (LBD)/osteopenia/osteoporosis in Iranian type 2 diabetics (T2D).Methods This study contained 165 patients with T2D. Separated for gender and polymorphism, crude and adjusted (for age and BMI), logistic regression analysis provided odds ratios (ORs). The most common haplotype was used as the reference for each type of VDR gene polymorphism.Results The occurrence of T2D was 13.03% (165/1266) for the people dwelling in the city of Sanandaj in 2012, until 2013. 13.92% and 81.29% of participants with T2D had osteoporosis and vitamin D deficiency, respectively. In women, tt genotype significantly decreased the risk of LBD/osteopenia/osteoporosis versus Tt genotype, after adjusting for BMI and age (OR=0.18, CI: 0.03-0.97). Conversely, the EE genotype increased the risk of LBD/osteopenia/osteoporosis versus Ee genotype (OR=7.64, CI: 2.03-28.72).Conclusions Among the patients with T2D, Vitamin D deficiency and osteoporosis were prevalent, and some genetic variations in VDR were significantly associated with osteoporosis. In women, a weak protective role in LBD/osteopenia/osteoporosis was found for tt variant of TaqI polymorphism. More importantly, EE variant of EcoRV polymorphism had a strong significant association with increasing the risk of LBD/osteopenia/osteoporosis. Further ethnicity-based cohort studies based on a large study group of T2D patients are recommended.


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