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Single nucleotide polymorphism and vitamins

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https://www.readbyqxmd.com/read/28891930/vitamin-d-receptor-gene-polymorphisms-associated-with-childhood-autism
#1
Anna Cieślińska, Elżbieta Kostyra, Barbara Chwała, Małgorzata Moszyńska-Dumara, Ewa Fiedorowicz, Małgorzata Teodorowicz, Huub F J Savelkoul
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene...
September 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28891071/genetic-variation-in-the-vitamin-d-related-pathway-and-breast-cancer-risk-in-women-of-african-ancestry-in-the-root-consortium
#2
Shengfeng Wang, Dezheng Huo, Sonia Kupfer, Dereck Alleyne, Temidayo O Ogundiran, Oladosu Ojengbede, Wei Zheng, Katherine L Nathanson, Barbara Nemesure, Stefan Ambs, Olufunmilayo I Olopade, Yonglan Zheng
The vitamin D related pathway has been evaluated in carcinogenesis but its genetic contribution remains poorly understood. We examined single-nucleotide polymorphisms (SNPs) in the vitamin D related pathway genes using data from a genome-wide association study (GWAS) of breast cancer in the African Diaspora that included 3,686 participants (1,657 cases). Pathway- and gene-level analyses were conducted using the adaptive rank truncated product test. Odds ratios (OR) and 95% confidence intervals (CI) were estimated at SNP-level...
September 10, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28881669/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#3
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
August 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28868946/vitamin-d-receptor-gene-polymorphisms-and-risk-of-polycystic-ovary-syndrome-in-south-indian-women
#4
Swapna Siddamalla, Tumu Venkat Reddy, Suresh Govatati, Nagendram Erram, Mamata Deenadayal, Sisinthy Shivaji, Manjula Bhanoori
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive age women. Emerging evidence suggests that Vitamin D Receptor (VDR) might be a causal factor for characteristics associated with PCOS such as obesity and type 2 diabetes. Present study investigated association between VDR gene BsmI A/G (rs1544410), ApaI A/C (rs7975232) and TaqI T/C (rs731236) single nucleotide polymorphisms and PCOS risk in South Indian women. Genotyping of VDR gene SNPs was carried out in PCOS patients (n = 95) and controls (n = 130) by PCR-RFLP method and confirmed by sequencing analysis...
September 3, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28832880/association-of-vitamin-d-receptor-polymorphisms-with-the-risk-of-nonmelanoma-skin-cancer-in-adults
#5
Erin M Burns, Purushotham Guroji, Israr Ahmad, Hana M Nasr, Yingxue Wang, Iman A Tamimi, Elijah Stiefel, Mohammad S Abdelgawwad, Abdullah Shaheen, Anum F Muzaffar, Lisa M Bush, Christina B Hurst, Russell L Griffin, Craig A Elmets, Nabiha Yusuf
Importance: Protective effects of UV-B radiation against nonmelanoma skin cancer (NMSC) are exerted via signaling mechanisms involving the vitamin D receptor (VDR). Recent studies have examined single-nucleotide polymorphisms (SNPs) in the VDR, resulting in contradictory findings as to whether these polymorphisms increase a person's risk for NMSC. Objective: To examine whether the polymorphisms in the VDR gene are associated with the development of NMSC and the demographic characteristics of the participants...
August 23, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28830874/single-nucleotide-polymorphisms-in-vitamin-d-related-genes-may-modify-vitamin-d-breast-cancer-associations
#6
Katie M O'Brien, Dale P Sandler, H Karimi Kinyamu, Jack A Taylor, Clarice R Weinberg
BACKGROUND: We previously observed that high serum 25-hydroxyvitamin D [25(OH)D] (>38.0 ng/mL) was inversely associated with breast cancer. Here, we examined effect modification by single nucleotide polymorphisms (SNPs) in vitamin D-related genes. METHODS: The Sister Study enrolled 50,884 US women who had a sister with breast cancer, but who had never had breast cancer themselves. Using a case-cohort design, we compared 1,524 women who developed breast cancer within 5 years to 1,810 randomly selected participants...
August 22, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28827564/the-profile-of-selected-single-nucleotide-polymorphisms-in-patients-with-hypertension-and-heart-failure-with-preserved-and-mid-range-ejection-fraction
#7
Agata Bielecka-Dabrowa, Agata Sakowicz, Tadeusz Pietrucha, Małgorzata Misztal, Piotr Chruściel, Jacek Rysz, Maciej Banach
The study aimed to assess the clinical significance of selected single nucleotide polymorphisms (SNPs) in patients with diastolic heart failure (HF): inflammation [-174 G/C Interleukin -6 (IL-6) rs1800795, tumor necrosis factor (TNF)-608 G/A rs1800629], fibrosis [Arg25Pro transforming growth factor β (TGF β) rs1800471], endothelial function [-786 T/C nitric oxide synthase (NOS) rs2070744], glucose and lipid metabolism [Pro12Ala peroxisome proliferator activated receptor (PPAR)γ rs1801282], and vitamin D metabolism [cytochrome P450 27B1 (CYP27B1) C-1260A]...
August 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28780723/vitamin-d-receptor-gene-polymorphism-association-with-susceptibility-to-early-onset-breast-cancer-in-iranian-brca1-2-mutation-carrier-and-non-carrier-patients
#8
Ahmad Shahabi, Majid Alipour, Hamid Safiri, Parsa Tavakol, Mehdi Alizadeh, S Milad Hashemi, Mahdieh Shahabi, Mohammad Halimi
Mounting evidences support that vitamin D insufficiency or deficiency is a risk factor of breast cancer. Vitamin D receptor (VDR) is expressed in more than 36 cell types in different organs as in cancerous cells. Numerous allelic variants of VDR gene have been identified in human populations. Association of FokI (rs2228570) and BsmI (rs1544410) single nucleotide polymorphisms (SNPs) in VDR gene with the risk of breast cancer have been investigated in several studies, however, the published data are still inconsistent...
August 6, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28779988/impact-of-polymorphism-rs7041-and-rs4588-of-vitamin-d-binding-protein-on-the-extent-of-coronary-artery-disease
#9
V Daffara, M Verdoia, R Rolla, M Nardin, P Marino, G Bellomo, A Carriero, G De Luca
BACKGROUND AND AIM: 25-hydroxyvitamin D deficiency represents a widespread social problem but also an emerging risk factor for cardiovascular disease. Genetic variants of the Vitamin D Binding Protein (VDBP), the main transporter of vitamin D in the bloodstream, have been shown to account for a significant variability in the levels and systemic effects of vitamin D. We investigated whether the single nucleotide polymorphisms, rs7041 and rs4588, of VDBP are associated to the prevalence and extent of coronary artery disease...
September 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28778077/interactions-between-vitamin-d-receptor-vdr-gene-and-interleukin-6%C3%A2-gene-and-environment-factors-on-coronary-heart-disease-risk-in-a-chinese-han-population
#10
Ma Jun, Guan Xue-Qiang, Li Jia, Xue Yang-Jing, Zheng Cheng, Jin Ge
AIMS: To investigate the association of several single nucleotide polymorphisms (SNPs) within Interleukin-6 (IL- 6) and vitamin D receptor (VDR) gene, and additional gene- gene and gene- smoking interaction with coronary heart disease (CHD) risk in a Chinese population. METHODS: Hardy-Weinberg equilibrium (HWE) examination was used by SNPstats (http://bioinfo.iconcologia.net/SNPstats). Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs and smoking...
July 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28765616/vitamin-d-receptor-and-calcium-sensing-receptor-polymorphisms-and-colorectal-cancer-survival-in-the-newfoundland-population
#11
Yun Zhu, Peizhong Peter Wang, Guangju Zhai, Bharati Bapat, Sevtap Savas, Jennifer R Woodrow, Ishor Sharma, Yuming Li, Xin Zhou, Ning Yang, Peter T Campbell, Elizabeth Dicks, Patrick S Parfrey, John R Mclaughlin
BACKGROUND: Increased serum levels of vitamin D and calcium have been associated with lower risks of colorectal cancer (CRC) incidence and mortality. These inverse associations may be mediated by the vitamin D receptor (VDR) and the calcium-sensing receptor (CASR). We investigated genetic variants in VDR and CASR for their relevance to CRC prognosis. METHODS: A population-based cohort of 531 CRC patients diagnosed from 1999 to 2003 in Newfoundland and Labrador, Canada, was followed for mortality and cancer recurrence until April 2010...
September 5, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28764147/study-of-vitamin-d-receptor-gene-polymorphism-foki-taqi-and-apai-among-prostate-cancer-patients-in-north-india
#12
Pankaj Ramrao Kambale, Deepa Haldar, B C Kabi, Kalpana Pankaj Kambale
INTRODUCTION: Incidence of prostate cancer is rising worldwide. Multiple factors have been suggested for the aetiology of prostate cancer including ethnic, genetic and diet. Vitamin D (calcitriol) has been shown to have role in cell growth and differentiation and its deficiency is implicated as one of the aetiological factors in prostate cancer. Prostatic epithelial cells express Vitamin D Receptor (VDR) as well as 1α- hydroxylase enzyme that are required for the synthesis of calcitriol and its action...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28739347/association-of-vitamin-d-receptor-gene-polymorphism-in-patients-with-type-2-diabetes-in-the-kashmir-valley
#13
Rawoof Malik, Rabia Farooq, Promela Mehta, Sheikh Ishaq, Insha Din, Parvaiz Shah, Sabhiya Majid
OBJECTIVES: Approx 1 billion people across various ethnic and age groups have vitamin D deficiency. The high prevalence of such a deficiency is an imperative public health issue because hypovitaminosis D is an autonomous risk factor for mortality in the general population. Beyond bone integrity and calcium homeostasis, it is involved in numerous physiologic and pathologic processes. The role of vitamin D in the pathogenesis and prevention of type 2 diabetes mellitus has sparked universal interest...
July 21, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28734792/genetic-factors-of-cervical-spondylotic-myelopathy-a-systemic-review
#14
REVIEW
Guohua Wang, Yong Cao, Tianding Wu, Chunyue Duan, Jianhuang Wu, Jianzhong Hu, Hongbin Lu
BACKGROUND: Cervical spondylotic myelopathy (CSM) is a degenerative disorder of the neck. Recent studies have reported the roles of single nucleotide polymorphisms and abnormal gene expression in the etiology and development of CSM. However, a systemic review of these findings is currently unavailable. METHODS: A systemic review of genetic factors of CSM was conducted through searching PubMed and EMbase databases. A total of 9 studies were included in this study, which included 8 genes: brain derived neurotrophic factor (BDNF), osteopontin (OPN), bone morphogenic protein (BMP) 4, collagen IX, vitamin D receptor (VDR), apolipoprotein E (ApoE), hypoxia-inducible factor α (HIF-1α), and cyclooxygenase 2 (COX-2)...
October 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28703134/genetic-variants-underlying-vitamin-d-metabolism-and-vdr-tgf%C3%AE-1-smad3-interaction-may-impact-on-hcv-progression-a-study-based-on-dbgap-data-from-the-halt-c-study
#15
Laura A de Azevedo, Ursula Matte, Themis R da Silveira, Mário R Álvares-da-Silva
Vitamin D deficiency is prevalent in liver disease and vitamin D has been shown to decrease hepatic fibrosis through an anti-TGFβ-1/SMAD3 effect mediated by the vitamin D receptor. Thus, we hypothesized that genetic variants involved in vitamin D metabolism and/or VDR/TGFβ-1/SMAD3 interaction could impact on the progression of chronic HCV. We obtained or imputed genotypes for 40 single nucleotide polymorphisms (SNPs) located in genes implicated in vitamin D metabolism from the HALT-C cohort via dbGaP. The HALT-C study followed 692 chronic HCV patients over 4 years, evaluating clinical outcomes including worsening of fibrosis, hepatic decompensation (gastric/esophageal bleeding, CTP>7, ascites, spontaneous bacterial peritonitis and encephalopathy), development of hepatocellular carcinoma, and liver death...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28700743/polymorphisms-in-the-vitamin-d-receptor-gene-are-associated-with-reduced-rate-of-sputum-culture-conversion-in-multidrug-resistant-tuberculosis-patients-in-south-africa
#16
Matthew J Magee, Yan V Sun, James C M Brust, N Sarita Shah, Yuming Ning, Salim Allana, Angela Campbell, Qin Hui, Koleka Mlisana, Pravi Moodley, Neel R Gandhi
BACKGROUND: Vitamin D modulates the inflammatory and immune response to tuberculosis (TB) and also mediates the induction of the antimicrobial peptide cathelicidin. Deficiency of 25-hydroxyvitamin D and single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene may increase the risk of TB disease and decrease culture conversion rates in drug susceptible TB. Whether these VDR SNPs are found in African populations or impact multidrug-resistant (MDR) TB treatment has not been established...
2017: PloS One
https://www.readbyqxmd.com/read/28692301/high-dose-vitamin-d3-during-tuberculosis-treatment-in-mongolia-a-randomized-controlled-trial
#17
RANDOMIZED CONTROLLED TRIAL
Davaasambuu Ganmaa, Baatar Munkhzul, Wafaie Fawzi, Donna Spiegelman, Walter C Willett, Purev Bayasgalan, Erkhembayar Baasansuren, Burneebaatar Buyankhishig, Sereeter Oyun-Erdene, David A Jolliffe, Theodoros Xenakis, Sabri Bromage, Barry R Bloom, Adrian R Martineau
RATIONALE: Existing trials of adjunctive vitamin D in the treatment of pulmonary tuberculosis (PTB) are variously limited by small sample sizes, inadequate dosing regimens, and high baseline vitamin D status among participants. Comprehensive analyses of the effects of genetic variation in the vitamin D pathway on response to vitamin D supplementation are lacking. OBJECTIVES: To determine the effect of high-dose vitamin D3 on response to antimicrobial therapy for PTB and to evaluate the influence of single-nucleotide polymorphisms (SNPs) in vitamin D pathway genes on response to adjunctive vitamin D3...
September 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28676457/on-the-role-of-classical-and-novel-forms-of-vitamin-d-in-melanoma-progression-and-management
#18
REVIEW
Andrzej T Slominski, Anna A Brożyna, Cezary Skobowiat, Michal A Zmijewski, Tae-Kang Kim, Zorica Janjetovic, Allen S Oak, Wojciech Jozwicki, Anton M Jetten, Rebecca S Mason, Craig Elmets, We Li, Robert M Hoffman, Robert C Tuckey
Melanoma represents a significant clinical problem affecting a large segment of the population with a relatively high incidence and mortality rate. Ultraviolet radiation (UVR) is an important etiological factor in malignant transformation of melanocytes and melanoma development. UVB, while being a full carcinogen in melanomagenesis, is also necessary for the cutaneous production of vitamin D3 (D3). Calcitriol (1,25(OH)2D3) and novel CYP11A1-derived hydroxyderivatives of D3 show anti-melanoma activities and protective properties against damage induced by UVB...
July 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28672782/vitamin-e-and-alzheimer-s-disease-is-it-time-for-personalized-medicine
#19
REVIEW
Breana Cervantes, Lynn M Ulatowski
For the last two decades, it has been hotly debated whether vitamin E-the major lipid-soluble antioxidant, which functions to maintain neurological integrity-is efficacious as a therapy for Alzheimer's disease. Several factors key to the debate, include (1) which of the eight naturally-occurring vitamin E forms should be used; (2) how combination treatments affect vitamin E efficacy; and (3) safety concerns that most-recently resurfaced after the results of the Selenium and vitamin E Cancer prevention trial SELECT prostate cancer trial...
June 24, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28654689/a-high-density-intraspecific-snp-linkage-map-of-pigeonpea-cajanas-cajan-l-millsp
#20
Sheetal Arora, Ajay Kumar Mahato, Sangeeta Singh, Paritra Mandal, Shefali Bhutani, Sutapa Dutta, Giriraj Kumawat, Bikram Pratap Singh, A K Chaudhary, Rekha Yadav, K Gaikwad, Amitha Mithra Sevanthi, Subhojit Datta, Ranjeet S Raje, Tilak R Sharma, Nagendra Kumar Singh
Pigeonpea (Cajanus cajan (L.) Millsp.) is a major food legume cultivated in semi-arid tropical regions including the Indian subcontinent, Africa, and Southeast Asia. It is an important source of protein, minerals, and vitamins for nearly 20% of the world population. Due to high carbon sequestration and drought tolerance, pigeonpea is an important crop for the development of climate resilient agriculture and nutritional security. However, pigeonpea productivity has remained low for decades because of limited genetic and genomic resources, and sparse utilization of landraces and wild pigeonpea germplasm...
2017: PloS One
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