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https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#1
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28216333/vitamin-d-receptor-gene-polymorphisms-smoking-and-risk-of-sporadic-parkinson-s-disease-in-japan
#2
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...
February 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
#3
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
https://www.readbyqxmd.com/read/28161223/genetic-polymorphisms-in-the-esr1-and-vdr-genes-do-not-correlate-with-osteoporosis-in-patients-with-familial-dysautonomia
#4
David Cheishvili, Channa Maayan, Daniel M Sapozhnikov, Elad Lax, Rivka Dresner-Pollak
One of the major clinical manifestations of familial dysautonomia (FD)-a rare, neurodegenerative, autosomal-recessive disorder-is a high incidence and early onset of osteoporotic bone fractures. Early diagnosis is essential to initiate preventative therapy in at-risk patients and thus improve quality of life. However, the current lack of understanding of the complex relationship between FD and osteoporosis etiology precludes early diagnosis, and as such, accurate predictors of osteoporosis development in FD patients remain to be determined...
February 1, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28134349/vitamin-d-receptor-gene-foki-but-not-taqi-apai-bsmi-polymorphism-is-associated-with-hashimoto-s-thyroiditis-a-meta-analysis
#5
Xiaofei Wang, Wenli Cheng, Yu Ma, Jingqiang Zhu
Four VD receptor (VDR) gene polymorphisms (TaqI, ApaI, FokI and BsmI) have been reported to influence Hashimoto's thyroiditis (HT) risk. However, individual studies have produced inconsistent results. We conducted a comprehensive meta-analysis of eleven case-control studies to better understand roles of the four polymorphisms in HT development. The results showed only FokI polymorphism was significantly associated with the risk of HT (F vs f: OR = 1.44, 95% CI = 1.09-1.91, P = 0.010; FF vs Ff + ff: OR = 1...
January 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28067591/association-between-vitamin-d-receptor-polymorphism-and-serum-vitamin-d-levels-in-children-with-low-energy-fractures
#6
Michal Karpiński, Anna Galicka, Robert Milewski, Janusz Popko, Vladimir Badmaev, Sidney J Stohs
OBJECTIVE: Fractures of bones, especially forearm fractures, are very common in children and their number is increasing. This study was designed to determine the impact of vitamin D serum levels and vitamin D receptor (VDR) polymorphisms on the occurrence of low-energy fractures in children. METHODS: The study group consisted of 100 children with clinically relevant bone fractures and a control group consisted of 127 children without fractures. Total vitamin D [25(OH)D3 plus 25(OH)D2] serum concentrations were evaluated in every patient...
January 9, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28009432/genetic-polymorphisms-of-vitamin-d-receptor-vdr-cyp27b1-and-cyp24a1-genes-and-the-risk-of-colorectal-cancer
#7
Verônica Marques Vidigal, Tiago Donizetti Silva, Juliana de Oliveira, Célia Aparecida Marques Pimenta, Aledson Vitor Felipe, Nora Manoukian Forones
INTRODUCTION: Vitamin D receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 involved in the production and inactivation of vitamin D can influence vitamin D and the susceptibility to colorectal cancer (CRC). The objective of this study was to investigate the relationship between the risk of CRC and polymorphisms in VDR, CYP27B1 and CYP24A1, lifestyle and dietary habits. METHODS: The study included 152 patients with CRC and 321 controls. All participants answered a questionnaire on their dietary habits, alcohol consumption and smoking habits...
December 22, 2016: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28002154/the-role-of-25-hydroxyvitamin-d-as-a-predictor-of-clinical-and-radiological-outcomes-in-early-onset-rheumatoid-arthritis
#8
Mario Andrés Quintana-Duque, Jorge Eduardo Caminos, Adriana Varela-Nariño, Enrique Calvo-Paramo, Juan José Yunis, Antonio Iglesias-Gamarra
OBJECTIVE: The aims of this study were to compare the levels of 25-hydroxyvitamin D (25(OH)D) in patients with early-onset rheumatoid arthritis (EORA) versus a healthy control group and to assess the association of 25(OH)D deficiency and the BsmI polymorphism of the vitamin D receptor gene with clinical, radiological, and laboratory parameters. METHODS: Early-onset RA Colombian patients were enrolled in a 3-year follow-up study. Vitamin D deficiency was diagnosed for 25(OH)D levels of less than 20 ng/mL...
January 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/27914610/lack-of-association-between-vitamin-d-receptor-polymorphisms-apai-rs7975232-and-bsmi-rs1544410-and-osteoporosis-among-the-han-chinese-population-a-meta-analysis
#9
Meng Yu, Guo-Qiang Chen, Fang Yu
In this study, we aimed to assess the relationship between vitamin D receptor gene polymorphisms and osteoporosis in the Han Chinese population. Articles regarding associations between vitamin D receptor polymorphisms (ApaI rs7975232 and BsmI rs1544410) and osteoporosis were retrieved from databases in November 2014. Eligible studies were tested by the Hardy-Weinberg equilibrium. The odds ratio and 95% confidence interval (95% CI) were analyzed to evaluate the strength of the associations. Pooled effect estimates were derived using a fixed-effect model and a random-effect model according to the heterogeneity of the test results...
December 2016: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/27906437/vitamin-d-receptor-polymorphisms-as-tool-for-early-screening-of-severe-bone-loss-in-women-patients-with-rheumatoid-arthritis
#10
G Di Spigna, A Del Puente, B Covelli, E Abete, E Varriale, S Salzano, L Postiglione
OBJECTIVE: Rheumatoid Arthritis (RA) is an autoimmune inflammatory disease that leads to local and systemic arthritis and bone loss. Exploring genetic markers of candidate genes in osteoporosis and inflammatory cytokine genes could be a useful tool for the early identification of bone loss and fracture risk in RA patients. The target of this study is the evaluation and correlation between of Single Nucleotide Polymorphisms (SNPs) of Vitamin D Receptor (VDR) and possible effects on bone loss in RA...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27891515/the-association-between-vdr-gene-polymorphisms-and-diabetic-retinopathy-susceptibility-a-systematic-review-and-meta-analysis
#11
REVIEW
Yun Zhang, Wei Xia, Ping Lu, Huijuan Yuan
Aims. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic meta-analysis was undertaken to clarify this topic. Methods. A systematic search of electronic databases (PubMed, EMBASE, and CNKI) was carried out until March 31, 2016. The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. Results. A total of 7 studies fulfilling the inclusion criteria were included in this meta-analysis (649 cases and 707 controls)...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27861345/vitamin-d-receptor-gene-bsmi-polymorphisms-in-egyptian-children-and-adolescents-with-systemic-lupus-erythematosus-a-case-control-study
#12
Seham F Azab, Yasser F Ali, Mohsen A A Farghaly, Mohammed E Hamed, Mayy A N Allah, Ahmed A Emam, Nasser I Abdelsalam, Mustafa I A Hashem, Heba H Gawish, Rehab M Nabil, Lamiaa M Kamel, Dalia S Fahmy, Salah F Alsayed, Nashwa M Al Azizi, Ghada M Al-Akad, Maha A Noah, Hind M Abdelrahman, Ahmed R Ahmed, Eman A Bendary
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. To date, only a few studies concerned the association of the VDR gene polymorphisms with childhood-onset SLE.In this study, we aimed to investigate the BsmI polymorphisms in the VDR gene, for the first time in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a marker of susceptibility to or severity of SLE and we also measured the serum level of 25-hydroxyvitamin D (25[OH] D) to assess its relation to such polymorphism...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27806471/variations-in-vitamin-d-receptor-gene-adiposity-phenotypes-and-metabolic-profile-in-overweight-women-with-hypovitaminosis-d
#13
Samira Ebrahimof, Hamid Zand, Sakineh Shab-Bidar, Marjan Zarif Yeganeh, Farzaneh Jahangiri, Katayoun Pourvali, Maryam Sadat Daneshpour, Mehdi Hedayati
BACKGROUND: The possible role of vitamin D receptor (VDR) genotypes in determining adiposity phenotypes and cardiovascular risk factors has been suggested previously. The aim of this study was to evaluate the associations of the VDR gene variants with adiposity phenotypes and metabolic profile in Iranian overweight women with hypovitaminos is D. METHODS: Three VDR variants including FokI (rs2228570), BsmI (rs1544410) and rs757343 were detected using PCR-sequencing...
June 30, 2016: Global Journal of Health Science
https://www.readbyqxmd.com/read/27778467/association-between-vitamin-d-receptor-gene-polymorphism-and-ankylosing-spondylitis-in-han-chinese
#14
Pingping Zhang, Qiuxia Li, Jun Qi, Qing Lv, Xuqi Zheng, Xinyu Wu, Jieruo Gu
OBJECTIVES: To investigate whether vitamin D receptor (VDR) gene polymorphisms confer susceptibility to aankylosing spondylitis (AS) and study its polymorphisms in Han Chinese. METHODS: We screened single nucleotide polymorphisms (SNPs) in the VDR region through genome-wide genotyping chips in AS cases and healthy controls, then used the exome sequencing result to analyze all the potential AS-associated SNPs in the VDR gene. RESULTS: Thirty-two SNPs were found in the VDR gene in the genome-wide genotyping chips and the logistic regression result showed no significant difference between AS cases and controls...
October 25, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27771345/the-association-between-vitamin-d-receptor-polymorphisms-and-serum-25-hydroxyvitamin-d-levels-with-ulcerative-colitis-in-chinese-han-population
#15
Shu-Zi Zheng, Da-Guan Zhang, Hao Wu, Li-Jia Jiang, Jie Jin, Xiu-Qing Lin, Ran Ding, Yi Jiang
There is now growing evidence suggesting that Vitamin D is playing a critical role in modulating the innate and adaptive immune responses. Several polymorphisms have been identified in the vitamin D receptor (VDR) gene but their association with ulcerative colitis (UC) susceptibility remained controversy. In the current study, we examined the association between VDR polymorphisms and serum level of 25-hydroxyvitamin D [25(OH)D] with UC in Chinese Han population. Polymorphisms of FokI (rs2228570)/BsmI (rs1544410)/ApaI (rs7975232)/TaqI (rs731236) in the VDR gene were assessed in a case-control study comprising 404 UC patients and 612 controls...
October 19, 2016: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/27745951/seasonal-influenza-vaccination-in-china-landscape-of-diverse-regional-reimbursement-policy-and-budget-impact-analysis
#16
Juan Yang, Katherine E Atkins, Luzhao Feng, Mingfan Pang, Yaming Zheng, Xinxin Liu, Benjamin J Cowling, Hongjie Yu
BACKGROUND: To explore the current landscape of seasonal influenza vaccination across China, and estimate the budget of implementing a national "free-at-the-point-of-care" vaccination program for priority populations recommended by the World Health Organization. METHODS: In 2014 and 2016, we conducted a survey across provincial Centers for Disease Control and Prevention to collect information on regional reimbursement policies for influenza vaccination, estimated the national uptake using distributed doses of influenza vaccines, and evaluated the budget using population size and vaccine cost obtained from official websites and literatures...
October 13, 2016: Vaccine
https://www.readbyqxmd.com/read/27672714/relationship-between-vitamin-d-receptor-gene-polymorphisms-cardiovascular-risk-factors-and-adiponectin-in-a-healthy-young-population
#17
Aline Hajj, Rima Chedid, Eliane Chouery, André Megarbané, Marie-Hélène Gannagé-Yared
AIM: To explore the association between VDR polymorphisms and several cardiovascular risk factors and adiponectin. MATERIALS & METHODS: Three-hundred and sixty-nine healthy students were randomly selected. Five VDR polymorphisms were genotyped: BsmI rs1544410; Cdx2 rs11568820; ApaI rs7975232; TaqI rs731236 and FokI rs2228570. BMI, waist circumference (WC), blood pressure, lipid/glycemic profiles and adiponectin were assessed. RESULTS: In men, BsmI, ApaI and TaqI were associated with BMI and WC (p < 0...
October 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27611592/an-improved-pcr-rflp-assay-for-the-detection-of-a-polymorphism-rs2289487-of-plin1-gene
#18
Xiaolei Feng, Sihua Wang, Xiaoran Duan, Chunyang Li, Zhen Yan, Feifei Feng, Songcheng Yu, Yongjun Wu, Wei Wang
BACKGROUND: In recent research, it has been shown that rs2289487 within the PLIN1 gene has different variants that have been associated with obesity, type 2 diabetes, and other diseases. However, the isochizomers such as the BsmI enzyme required for detection of this polymorphism through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method are expensive. In this study, we aimed to explore a novel PCR-RFLP method for identifying the single-nucleotide polymorphism (SNP) of rs2289487 of PLIN1 gene...
November 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27551963/association-of-vitamin-d-receptor-gene-polymorphisms-with-susceptibility-to-childhood-asthma-a-meta-analysis
#19
Dong-Dong Zhao, Dan-Dan Yu, Qiong-Qiong Ren, Bao Dong, Feng Zhao, Ye-Huan Sun
BACKGROUND: As for the association of vitamin D receptor (VDR) gene polymorphisms with susceptibility to pediatric asthma, results of published studies yielded conflicts. A systematic review was conducted on the relationship between childhood asthma and VDR gene polymorphisms, including ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236). METHODS: PubMed, Web of Science, CBM (Chinese Biomedical Database), CNKI (China National Knowledge Infrastructure), and Wanfang (Chinese) database were searched for relevant studies...
August 23, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27504361/the-effect-of-some-polymorphisms-in-vitamin-d-receptor-gene-in-menopausal-women-with-osteoporosis
#20
Morteza Dehghan, Razieh Pourahmad-Jaktaji
INTRODUCTION: Vitamin D receptor gene is one of candidate genes related to osteoporosis expansion. The association of ApaI, TaqI, BsmI polymorphisms in vitamin D receptor gene with bone metabolism and density has been area of interest in many studies. AIM: This study was conducted to further investigate the association between the ApaI, TaqI, BsmI polymorphisms and bone density. This study was analytical study. Centers for bone density measurement in southwestern Iran...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
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