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https://www.readbyqxmd.com/read/28527290/association-of-polymorphic-variants-of-ptpn22-tnf-and-vdr-genes-in-children-with-lupus-nephritis-a-study-in-colombian-family-triads
#1
Gloria Garavito, Eduardo Egea, Luis Fang, Clara Malagón, Carlos Olmos, Luz González, Pilar Guarnizo, Gustavo Aroca, Guillermo López, Antonio Iglesias
INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability. OBJECTIVE: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28492361/influence-of-rs2228570-on-transcriptional-activation-by-the-vitamin-d-receptor-in-human-gingival-fibroblasts-and-periodontal-ligament-cells
#2
Kaining Liu, Bing Han, Huanxin Meng, Jianxia Hou
BACKGROUND: Rs2228570 is the only known single nucleotide polymorphism of the vitamin D receptor (VDR) that alters the protein structure. VDRs can be distinguished using the restriction endonuclease FokI, and accordingly divided into three genotypes: FF, Ff and ff. The influence of rs2228570 on transcriptional activation by VDR in human gingival fibroblasts (hGFs) and periodontal ligament cells (hPDLCs) was investigated in this study. METHODS: hGFs and hPDLCs from 15 donors were cultured, genomic DNA was extracted, and genotypes were determined using the PCR-RFLP method...
May 11, 2017: Journal of Periodontology
https://www.readbyqxmd.com/read/28477125/studies-of-the-dna-damage-response-by-using-the-lac-operator-repressor-laco-lacr-tethering-system
#3
Rossana Piccinno, Marta Cipinska, Vassilis Roukos
Maintaining the integrity of genetic information is essential for the survival of cells. Recent advances in cell biological and microscopy methodologies have complemented traditional genetic and biochemical approaches, and they now permit the observation of spatiotemporal aspects of damaged chromosomal loci. In one of these approaches, integrated LacO/TetO operator sequences can be used as binding sites to physically tether onto chromatin any protein of interest when genetically fused to the respective repressors (LacR/TetR)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28471689/the-effect-of-tonsillotomy-on-chronic-recurrent-tonsillitis-in-children
#4
Elisabeth Foki, Rudolf Seemann, Klaus Stelter, Claudia Lill
OBJECTIVES: The objective of this study is to determine whether partial tonsillectomy (tonsillotomy) impacts the occurrence of acute or recurrent tonsillitis in children. METHODS: One hundred and eighty patients (1-14 years) were retrospectively surveyed by a questionnaire or by data analysis of a regional database. Subjects who suffered from severe systemic diseases or immunodeficiency syndromes were excluded. Episodes of acute tonsillitis before and after surgery, rate of antibiotic treatment, postoperative hemorrhage, and re-operation were obtained...
May 4, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28432711/vdr-gene-methylation-as-a-molecular-adaption-to-light-exposure-historic-recent-and-genetic-influences
#5
Emma L Beckett, Patrice Jones, Martin Veysey, Konsta Duesing, Charlotte Martin, John Furst, Zoe Yates, Nina G Jablonski, George Chaplin, Mark Lucock
OBJECTIVES: The vitamin D receptor (VDR) is a member of the nuclear receptor family of transcription factors. We examined whether degree of VDR gene methylation acts as a molecular adaptation to light exposure. We explored this in the context of photoperiod at conception, recent UV irradiance at 305 nm, and gene-latitude effects. METHODS: Eighty subjects were examined for VDR gene-CpG island methylation density. VDR gene variants were also examined by PCR-RFLP. RESULTS: Photoperiod at conception was significantly positively related to VDR methylation density, explaining 17% of the variance in methylation (r(2)  = 0...
April 22, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28411367/serum-25-oh-d-concentration-common-variants-of-the-vdr-gene-and-lung-cancer-occurrence
#6
Tomasz Gromowski, Paulina Gapska, Rodney J Scott, Krzysztof Kąklewski, Wojciech Marciniak, Katarzyna Durda, Marcin Lener, Bohdan Górski, Cezary Cybulski, Grzegorz Sukiennicki, Katarzyna Kaczmarek, Katarzyna Jaworska-Bieniek, Katarzyna Paszkowska-Szczur, Piotr Waloszczyk, Jan Lubiński, Tadeusz Dębniak
The first aim of our study was to examine the association between common variants in VDR [rs2228570 (FokI), rs1544410 (BsmI), rs7975232 (ApaI), rs731236 (TaqI) and rs11568820 (Cdx2)] and lung cancer risk in the Polish population. Genotyping and statistical analysis which included Chi-square test with Yates correction and haplotype frequency analysis were performed on a series of 840 consecutively collected lung cancer patients and 920 healthy controls. The second aim was to evaluate the link between serum 25(OH)D concentration and the number of lung cancers in a subgroup of 200 patients...
April 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28407346/vitamin-d-receptor-gene-polymorphisms-in-serbian-patients-with-bronchial-asthma-a-case-control-study
#7
Milena Despotovic, Tatjana Jevtovic Stoimenov, Ivana Stankovic, Jelena Basic, Dusica Pavlovic
Vitamin D and single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) gene are potentially involved in the pathogenesis of bronchial asthma (BA); however, precise mechanisms by which vitamin D reduces the inflammation and the role of VDR SNPs in BA are not completely understood. The aim of this study was to examine the possible associations of FokI, BsmI, ApaI and TaqI SNPs with BA. A total of 168 subjects were screened for VDR SNPs using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method...
April 13, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28406554/vitamin-d-receptor-gene-polymorphisms-association-with-the-risk-of-sepsis-and-mortality
#8
K Zeljic, A Elkilany, G Supic, M Surbatovic, D Djordjevic, Z Magic, B Bozic
Association of vitamin D receptor (VDR) gene polymorphisms with sepsis risk and mortality was studied. VDR FokI CC genotype was associated with increased sepsis risk (OR = 13.396, p = .000009) compared to the TT genotype. Results suggest possible role of VDR FokI (rs2228570) as a molecular biomarker of increased sepsis risk.
April 12, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28392355/association-of-vitamin-d-receptor-gene-polymorphisms-with-metabolic-syndrome-and-its-components-among-adult-arabs-from-the-united-arab-emirates
#9
Hayder A Hasan, Ra'ed O AbuOdeh, Wan Abdul Manan Bin Wan Muda, Hamid Jan Bin Jan Mohamed, Ab Rani Samsudin
AIMS: The aim was to investigate relationships of Vitamin D receptor gene (VDR) polymorphisms to the components of MetS among Arabs adult residing in the United Arab Emirates. METHODS: A cross-sectional study of 198 Arabs adult (50 males and 148 females). Serum levels of glucose, vitamin D, HDL-C, and TG, and blood pressure were measured. FokI, BsmI & TaqI genotyping of VDR were investigated using PCR-RFLP technique. RESULTS: Age of the participants was 21(9) years with a BMI of 26...
April 2, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28388281/the-vitamin-d-receptor-functional-variant-rs2228570-c-t-does-not-associate-with-type-2-diabetes-mellitus
#10
Laura Bertoccini, Federica Sentinelli, Frida Leonetti, Diego Bailetti, Danila Capoccia, Flavia A Cimini, Ilaria Barchetta, Michela Incani, Andrea Lenzi, Efisio Cossu, M Gisella Cavallo, Marco G Baroni
AIM: Vitamin D acts through the binding to the vitamin D receptor (VDR). Several polymorphisms in VDR gene have been studied. Among these, the rs2228570 C>T (FokI) variant has been demonstrated to be functional, leading to a protein with a different size and activity. So far, genetic studies on the association between VDR gene rs2228570 single nucleotide polymorphism (SNP) and type 2 diabetes mellitus (T2DM) showed contradictory results. Thus, we performed an association study in a large cohort of adult Italian subjects with T2DM and in nondiabetic controls...
April 7, 2017: Endocrine Research
https://www.readbyqxmd.com/read/28376475/osteopontin-bone-morphogenetic-protein-4-and-vitamin-d-receptor-gene-polymorphisms-in-the-susceptibility-and-clinical-severity-of-spinal-tuberculosis
#11
Guohua Wang, Liangyi Xie, Jianzhong Hu, Hongbin Lu, Xiangyang Liu, Yong Cao, Bin Liu, Yi Zhang, Xiongjie Shen
BACKGROUND/AIMS: Spinal tuberculosis (TB) is a common and dangerous form of extrapulmonary TB with unclear mechanisms in its occurrence and progression. This study investigated the clinical significances of bone morphogenetic protein-4 (BMP-4), osteopontin (OPN), and vitamin D receptor (VDR) gene polymorphism, mRNA and protein expression in spinal TB patients. METHODS: BMP-4 and OPN gene polymorphisms were detected by direct DNA sequencing, while VDR-FokI polymorphisms were analyzed using PCR-RFLP...
April 4, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28351026/common-variants-of-vitamin-d-receptor-gene-polymorphisms-and-susceptibility-to-coronary-artery-disease-a-systematic-review-and-meta-analysis
#12
Shahab Alizadeh, Kurosh Djafarian, Hamzeh Alizadeh, Reza Mohseni, Sakineh Shab-Bidar
BACKGROUND AND AIMS: ApaI, FokI, TaqI, and BsmI polymorphisms in the vitamin D receptor (VDR) gene have been reported to be associated with the risk of coronary artery disease (CAD), although the results of previous studies have been inconsistent. The aim of this study was to explore whether these polymorphisms play a role in the genetic susceptibility to CAD. METHODS: A comprehensive search of Medline and Embase databases was conducted for studies evaluating the association between the VDR polymorphisms and CAD risk...
March 29, 2017: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28323045/vitamin-d-receptor-gene-polymorphisms-among-emirati-patients-with-type-2-diabetes-mellitus
#13
Habiba Al Safar, Sarah El Hajj Chehadeh, Laila Abdel-Wareth, Afrozul Haq, Herbert F Jelinek, Gehad ElGhazali, Fatme Al Anouti
At a prevalence rate close to 19.5%, the UAE has one of the highest rates of Type 2 Diabetes Mellitus (T2DM) in the world. Genome wide association studies (GWAS) have led to the identification of several genetic variants that are associated with T2DM. Recently, genes involved in vitamin D metabolism have gained interest because of the association between vitamin D deficiency (VDD) and increased risk for T2DM. Among these, the Vitamin D receptor (VDR) gene is a good candidate for T2DM susceptibility. The aim of this study was to investigate the association between VDR polymorphisms and T2DM among a representative sample of the Emirati population...
March 16, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28301870/the-impact-of-vitamin-d-pathway-genetic-variation-and-circulating-25-hydroxyvitamin-d-on-cancer-outcome-systematic-review-and-meta-analysis
#14
P G Vaughan-Shaw, F O'Sullivan, S M Farrington, E Theodoratou, H Campbell, M G Dunlop, L Zgaga
BACKGROUND: Vitamin D has been linked with improved cancer outcome. This systematic review and meta-analysis investigates the relationship between cancer outcomes and both vitamin D-related genetic variation and circulating 25-hydroxyvitamin D (25OHD) concentration. METHODS: A systematic review and meta-analysis of papers until November 2016 on PubMed, EMBASE and Web of Science pertaining to association between circulating vitamin D level, functionally relevant vitamin D receptor genetic variants and variants within vitamin D pathway genes and cancer survival or disease progression was performed...
April 11, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28296915/genetic-variation-in-the-vitamin-d-pathway-cyp2r1-gene-predicts-sustained-hbeag-seroconversion-in-chronic-hepatitis-b-patients-treated-with-pegylated-interferon-a-multicenter-study
#15
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjareon, Tawesak Tanwandee, Phunchai Charatcharoenwitthaya, Satawat Thongsawat, Apinya Leerapun, Teerha Piratvisuth, Rattana Boonsirichan, Chalermrat Bunchorntavakul, Chaowalit Pattanasirigool, Bubpha Pornthisarn, Supot Tantipanichtheerakul, Ekawee Sripariwuth, Woramon Jeamsripong, Teeranan Sanpajit, Yong Poovorawan, Piyawat Komolmit
Evidence of a role of vitamin D in the immune system is increasing. Low serum vitamin D is associated with increased hepatitis B virus replication. Genome-wide association study (GWAS) data has revealed a number of the single nucleotide polymorphisms (SNPs) within the vitamin D synthetic pathway that affect vitamin D functions. We aimed to determine the association between SNPs in the vitamin D gene cascade and response to pegylated interferon (PegIFN) therapy in hepatitis B e-antigen (HBeAg)-positive patients...
2017: PloS One
https://www.readbyqxmd.com/read/28258612/vitamin-d-receptor-gene-polymorphisms-in-immune-thrombocytopenic-purpura
#16
Sule Yesil, Hikmet Gulsah Tanyildiz, Sibel Akpinar Tekgunduz, Sule Toprak, Ali Fettah, Asiye Ugras Dikmen, Gurses Sahin
BACKGROUND: Vitamin D receptor (VDR) gene polymorphisms have been studied in immune-mediated disorders, but not yet in immune thrombocytopenic purpura (ITP). We investigated whether VDR variants were associated with ITP in children. METHODS: The study included 44 children with a diagnosis of ITP and 100 healthy controls. Five VDR polymorphisms (Cdx-2, FokI, BsmI, ApaI and TaqI) were genotyped and used to evaluate the association of VDR variants with ITP. RESULTS: The distribution of the three Cdx-2 genotyping groups (GG, GA, and AA) was significantly different between ITP patients and controls (p=0...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28253304/bone-mineral-density-is-associated-with-vitamin-d-related-rs6013897-and-estrogen-receptor-polymorphism-rs4870044-the-troms%C3%A3-study
#17
Ieva Martinaityte, Rolf Jorde, Nina Emaus, Anne Elise Eggen, Ragnar Martin Joakimsen, Elena Kamycheva
BACKGROUND: Bone mineral density (BMD) is determined by bone remodeling processes regulated by endocrine, autocrine and genetic mechanisms. Thus, some studies have reported that BMD is associated with single nucleotide polymorphisms (SNPs) associated with vitamin D receptor (VDR), serum 25(OH)D levels and estrogen receptor 1 (ESR1), but without consensus. Therefore, we aimed to map and compare the risk genotypes for forearm and total hip low BMD. METHODS AND FINDINGS: Data were derived from a population-based study in northern Norway; the Tromsø Study...
2017: PloS One
https://www.readbyqxmd.com/read/28240015/association-of-polymorphisms-in-the-vdr-cyp17-and-srd5a2-genes-and-prostate-cancer-among-lebanese-men
#18
Asmahan A El Ezzi, Monika T Baker, Wissam R Zaidan, Kalim M Hraiki, Mohammad A El Saidi, Ruhul H Kuddus
Aims: The goal of this study was to investigate possible associations of some single nucleotide polymorphisms (SNPs) in the VDR gene (the FokI, BsmI, ApaI and TaqαI loci), and the CYP17 gene (the MspA1I locus), and variable numbers of TA repeats in the SRD5A2 gene, with prostate cancer (PCa), among Lebanese men. Materials and Methods: Blood DNA samples of 50 subjects with confirmed PCa and 79 age-qualified controls were subjected to PCR or PCR-RFLP analyses, and the risk-bearing and protective alleles were identified...
January 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28216333/vitamin-d-receptor-gene-polymorphisms-smoking-and-risk-of-sporadic-parkinson-s-disease-in-japan
#19
Keiko Tanaka, Yoshihiro Miyake, Wakaba Fukushima, Chikako Kiyohara, Satoshi Sasaki, Yoshio Tsuboi, Tomoko Oeda, Hiroyuki Shimada, Nobutoshi Kawamura, Nobutaka Sakae, Hidenao Fukuyama, Yoshio Hirota, Masaki Nagai, Yoshikazu Nakamura
Epidemiological evidence on the relationships between the vitamin D receptor (VDR) single nucleotide polymorphisms (SNPs) rs731236 (TaqI), rs7975232 (ApaI), rs1544410 (BsmI), and rs2228570 (FokI) and Parkinson's disease (PD) is inconsistent. We investigated these relationships in 229 sporadic PD patients within six years of onset in Japan. Controls were 357 patients without neurodegenerative disease. Adjustment was made for sex, age, region of residence, and smoking. A significant inverse association was found between SNP rs2228570 and the risk of sporadic PD under the additive but not the co-dominant or dominant model (P=0...
March 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28186460/vitamin-d-receptor-gene-polymorphisms-metabolic-syndrome-and-type-2-diabetes-in-iranian-subjects-no-association-with-observed-snps
#20
Sakineh Shab-Bidar, Tirang R Neyestani, Abolghassem Djazayery
OBJECTIVE: This study aimed to investigate the associations between metabolic syndrome and type 2 diabetes and the presence of single nucleotide polymorphism of the vitamin D receptor gene in Iranian subjects with type 2 diabetes. SUBJECTS AND METHODS: Overall, 730 Iranian subjects (372 patients and 358 controls) were enrolled in this case-control study. Single nucleotide polymorphisms of the vitamin D receptor gene (FokI, BsmI, ApaI, and TaqI) were genotyped using the restriction fragment length polymorphism method...
February 10, 2017: International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition
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