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Single nucleotide polymorphism and vitamins

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https://www.readbyqxmd.com/read/29785132/influence-of-fto-rs9939609-polymorphism-on-appetite-ghrelin-leptin-il6-tnf%C3%AE-levels-and-food-intake-of-women-with-morbid-obesity
#1
Fernanda Cristina Carvalho Mattos Magno, Helena Chrispim Guaraná, Ana Carolina Proença Fonseca, Giselda Maria Kalil Cabello, João Régis Ivar Carneiro, Aline Pereira Pedrosa, Ana Carolina Ximenes, Eliane Lopes Rosado
Background: The fat mass and obesity-related ( FTO ) gene has a strong relationship with obesity, extreme obesity and inflammatory state, and may also be associated with food intake regulation. Objective: The aim of the present study was to evaluate the influence of the rs9939609 single-nucleotide polymorphism of the FTO gene on appetite, ghrelin, leptin, interleukin 6 (IL6), tumor necrosis factor α (TNFα) levels and food intake of morbidly obese women. Materials and methods: The study comprised 70 women, aged between 20 and 48 years, from Rio de Janeiro, Brazil...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/29782293/mycosis-fungoides-and-vitamin-d-status-analyses-of-serum-25-hydroxyvitamin-d-levels-and-single-nucleotide-polymorphisms-in-the-vitamin-d-receptor-gene
#2
Pinar Incel Uysal, Nuran Alli, Yildiz Hayran, Tuba Candar
Various types of cancer, including melanoma and non-melanoma skin cancer, are associated with vitamin D receptor (VDR) polymorphisms. However, few studies have addressed VDR polymorphisms in patients with mycosis fungoides (MF), and previous studies have reported conflicting results. Aim of this case-control study was to assess the correlation between VDR single nucleotide polymorphisms (SNPs) Cdx2, Fok1, Apa1, Bsm1, and Taq1 and MF. Venous blood samples were collected from 41 patients with MF and 59 age- and sex-matched healthy controls...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29766002/influence-of-vitamin-d-receptor-gene-polymorphisms-on-response-to-pegylated-interferon-in-chronic-hepatitis-b-egyptian-patients
#3
Gomaa Mostafa-Hedeab, Dina Sabry, Ghada Mostafa Abdelaziz, Manal Ewaiss, Nagla Adli, Wael Fathy
Background: We explored the effect of vitamin D receptor gene ( VDR ) polymorphisms in response to PEG-IFN treatment in Egyptian chronic hepatitis B (CHB) patients. Methods: Two hundred hepatitis B virus (HBV) patients (42.3±10.7 years) on PEG-IFN α-2a (180 µg /kg for 48 weeks) and one hundred control subjects (37.3 ±12 years) were enrolled in the study. Vitamin D levels and hepatitis B surface antigen (HBsAg) expression were assessed by ELISA. VDR polymorphisms FokI T>C (rs 10735810), BsmI A>G (rs 1544410), ApaI (rs7975253), and TaqI C>T (rs 731236), were genotyped using real-time PCR...
April 2018: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29755414/non-synonymous-single-nucleotide-polymorphisms-and-physical-activity-interactions-on-adiposity-parameters-in-malaysian-adolescents
#4
Nur Lisa Zaharan, Nor Hanisah Muhamad, Muhammad Yazid Jalaludin, Tin Tin Su, Zahurin Mohamed, M N A Mohamed, Hazreen A Majid
Background: Several non-synonymous single-nucleotide polymorphisms (nsSNPs) have been shown to be associated with obesity. Little is known about their associations and interactions with physical activity (PA) in relation to adiposity parameters among adolescents in Malaysia. Methods: We examined whether (a) PA and (b) selected nsSNPs are associated with adiposity parameters and whether PA interacts with these nsSNPs on these outcomes in adolescents from the Malaysian Health and Adolescents Longitudinal Research Team study ( n  = 1,151)...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29750155/association-between-subclinical-low-serum-25-oh-d-in-donors-and-fatty-liver-disease-in-recipients-after-living-donor-liver-transplantation
#5
King-Wah Chiu, Toshiaki Nakano, Tsung-Hui Hu, Kuang-Den Chen, Li-Wen Hsu, Hock-Liew Eng, Yu-Fan Cheng, Shigeru Goto, Chao-Long Chen
To explore subclinical fatty liver disease (FLD) in donors as a possible mechanism leading to FLD in recipients of living donor liver transplantation (LDLT), we extracted thirty donor-recipient pairs' serum DNA and explored the presence of CYP2R1 single nucleotide polymorphism (SNP) rs10741657 and vitamin D receptor (VDR) SNP rs2228530 A/G alleles using real-time polymerase chain reaction. We measured the serum 25(OH)D concentrations and investigated the CYP2R1 and VDR genotypes of the donors and recipients before and after LDLT for comparison with the histological findings from the donors on wedge biopsy, the recipients' removed native liver, and selective liver biopsy after LDLT...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29748306/serum-25-hydroxyvitamin-d-levels-and-risk-of-lung-cancer-and-histologic-types-a-mendelian-randomisation-analysis-of-the-hunt-study
#6
Yi-Qian Sun, Ben M Brumpton, Carolina Bonilla, Sarah J Lewis, Stephen Burgess, Frank Skorpen, Yue Chen, Tom Il Nilsen, Pål Richard Romundstad, Xiao-Mei Mai
We aimed to investigate potential causal associations between serum 25-hydroxyvitamin D [25(OH)D] levels and incidence of lung cancer overall and histologic types.We performed a Mendelian randomization (MR) analysis using a prospective cohort study in Norway, including 54 580 individuals and 676 incident lung cancer cases. A 25(OH)D allele score was generated based on vitamin D-increasing alleles of rs2282679, rs12785878 and rs10741657. Hazard ratios (HRs) with 95% confidence intervals (CIs) for incidence of lung cancer and histologic types were estimated in relation to the allele score...
May 10, 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29738868/bsmi-single-nucleotide-polymorphism-in-vitamin-d-receptor-gene-is-associated-with-decreased-circulatory-levels-of-serum-25-hydroxyvitamin-d-among-micro-and-macrovascular-complications-of-type-2-diabetes-mellitus
#7
Krishnamoorthy Ezhilarasi, Umapathy Dhamodharan, Viswanathan Vijay
Vitamin D Receptor (VDR) gene single nucleotide polymorphism (SNP) in the intron 8 is a well characterized SNP which has previously been linked to various diseases including Type 2 Diabetes Mellitus (T2DM). However, the association of this SNP with micro and macrovascular complications of T2DM remains poorly studied. Hence, the present study was designed to investigate the association of VDR gene SNP with complications of T2DM (disease phenotype) and correlated it with the serum levels of (25[OH]D) (intermediate phenotype) along with other clinical risk factors of T2DM...
May 5, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29728923/association-between-polymorphisms-in-vitamin-d-receptor-gene-and-adolescent-idiopathic-scoliosis-a-meta-analysis
#8
Jun Dai, Zheng-Tao Lv, Jun-Ming Huang, Peng Cheng, Huang Fang, An-Min Chen
PURPOSE: This meta-analysis was performed to clarify whether the two single nucleotide polymorphisms (ApaI and BsmI) in vitamin D receptor (VDR) gene conferred susceptibility to adolescent idiopathic scoliosis (AIS). METHODS: A comprehensive literature search in five online databases (PubMed, EMBASE, ISI Web of Science, CNKI, and Wanfang) was performed to identify studies that analyzed the association between VDR gene polymorphisms and risk of AIS. Observational studies met the predetermined inclusion criteria were selected for meta-analysis...
May 4, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29718904/association-of-vitamin-d-with-risk-of-type-2-diabetes-a-mendelian-randomisation-study-in-european-and-chinese-adults
#9
Ling Lu, Derrick A Bennett, Iona Y Millwood, Sarah Parish, Mark I McCarthy, Anubha Mahajan, Xu Lin, Fiona Bragg, Yu Guo, Michael V Holmes, Shoaib Afzal, Børge G Nordestgaard, Zheng Bian, Michael Hill, Robin G Walters, Liming Li, Zhengming Chen, Robert Clarke
BACKGROUND: Observational studies have reported that higher plasma 25-hydroxyvitamin D (25[OH]D) concentrations are associated with lower risks of diabetes, but it is unclear if these associations are causal. The aim of this study was to test the relevance of 25(OH)D for type 2 diabetes using genetically instrumented differences in plasma 25(OH)D concentrations. METHODS AND FINDINGS: Data were available on four 25(OH)D single nucleotide polymorphisms (SNPs; n = 82,464), plasma 25(OH)D concentrations (n = 13,565), and cases with diabetes (n = 5,565) in the China Kadoorie Biobank (CKB)...
May 2018: PLoS Medicine
https://www.readbyqxmd.com/read/29718408/ancient-nuclear-receptor-vdr-with-new-functions-microbiome-and-inflammation
#10
Danika Bakke, Jun Sun
The biological functions of 1α,25-dihydroxyvitamin D3 are regulated by nuclear receptor vitamin D receptor (VDR). The expression level of VDR is high in intestine. VDR is an essential regulator of intestinal cell proliferation, barrier function, and immunity. Vitamin D/VDR plays a protective role in inflammatory bowel diseases (IBDs), both ulcerative colitis and Crohn's disease. Emerging evidence demonstrates low VDR expression and dysfunction of vitamin D/VDR signaling in patients with IBD. Here, we summarize the progress made in vitamin D/VDR signaling in genetic regulation, immunity, and the microbiome in IBD...
April 28, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29688875/decreased-serum-pyridoxal-levels-in-schizophrenia-meta-analysis-and-mendelian-randomization-analysis
#11
Yukiko Tomioka, Shusuke Numata, Makoto Kinoshita, Hidehiro Umehara, Shin-Ya Watanabe, Masahito Nakataki, Yoshimi Iwayama, Tomoko Toyota, Masashi Ikeda, Hidenaga Yamamori, Shinji Shimodera, Atsushi Tajima, Ryota Hashimoto, Nakao Iwata, Takeo Yoshikawa, Tetsuro Ohmori
BACKGROUND: Alterations in one-carbon metabolism have been associated with schizophrenia, and vitamin B6 is one of the key components in this pathway. METHODS: We first conducted a case-control study of serum pyridoxal levels and schizophrenia in a large Japanese cohort ( n = 1276). Subsequently, we conducted a meta-analysis of association studies ( n = 2125). Second, we investigated whether rs4654748, which was identified in a genome-wide association study as a vitamin B6-related single nucleotide polymorphism, was genetically implicated in patients with schizophrenia in the Japanese population ( n = 10 689)...
May 2018: Journal of Psychiatry & Neuroscience: JPN
https://www.readbyqxmd.com/read/29665197/stabilization-of-warfarin-binding-pocket-of-vkorc1-and-vkorl1-by-a-peripheral-region-determines-their-different-sensitivity-to-warfarin-inhibition
#12
G Shen, S Li, W Cui, S Liu, Q Liu, Y Yang, M Gross, W Li
The human genome encodes two paralogs of vitamin-K-epoxide reductase, VKORC1 and VKORL1, that support blood coagulation and other vitamin-K-dependent processes. Warfarin inhibits both enzymes, but VKORL1 is relatively resistant to warfarin OBJECTIVES: To understand the difference between VKORL1 and VKORC1, and the cause of warfarin-resistant (WR) mutations in VKORC1 METHODS: We performed systematic mutagenesis and analyzed warfarin responses with a cell-based activity assay. Mass spectrometry analyses were used to detect cellular redox state RESULTS: VKORC1 and VKORL1 adopt a similar intracellular redox state with four-transmembrane-helix topology...
April 17, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29628049/identification-of-novel-cyp4f2-genetic-variants-exhibiting-decreased-catalytic-activity-in-the-conversion-of-arachidonic-acid-to-20-hydroxyeicosatetraenoic-acid-20-hete
#13
Woo-Young Kim, Su-Jun Lee, Jungki Min, Kyung-Suk Oh, Dong-Hyun Kim, Heui-Soo Kim, Jae-Gook Shin
CYP4F2 is an enzyme involved in the formation of 20-hydroxyeicosatetraenoic acid (20-HETE) from arachidonic acid and metabolizes vitamin K into an inactive form. Our objectives were to identify new CYP4F2 genetic variants and to characterize the functional consequences of the conversion of arachidonic acid into 20-HETE. We used direct DNA sequencing to identify a total of 20 single-nucleotide polymorphisms (SNPs) including four coding variants, A27V, R47C, P85A, and V433M, in 50 randomly selected subjects. Of these, A27V and P85A were new...
April 2018: Prostaglandins, Leukotrienes, and Essential Fatty Acids
https://www.readbyqxmd.com/read/29594051/vitamin-d-in-graves-disease-levels-correlation-with-laboratory-and-clinical-parameters-and-genetics
#14
Tereza Planck, Bushra Shahida, Johan Malm, Jonas Manjer
Objective: The aim was to compare the vitamin D levels in patients with Graves disease (GD) with the general population and to correlate the vitamin D levels with laboratory and clinical parameters in GD. Moreover, we examined the genetic variation in genes involved in the vitamin D metabolism and their association with GD. Methods: The levels of vitamin D were compared in 292 patients with newly diagnosed GD and 2,305 controls. Single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR), vitamin D binding protein (DBP), and 1-α-hydroxylase ( CYP27B1 ) were examined for association with GD and/or Graves ophthalmopathy (GO) in 708 patients and 1,178 controls...
January 2018: European Thyroid Journal
https://www.readbyqxmd.com/read/29593729/genomic-effects-of-the-vitamin-d-receptor-potentially-the-link-between-vitamin-d-immune-cells-and-multiple-sclerosis
#15
REVIEW
Ming Lu, Bruce V Taylor, Heinrich Körner
Vitamin D has a plethora of functions that are important for the maintenance of general health and in particular, the functional integrity of the immune system, such as promoting an anti-inflammatory cytokine profile and reducing the Treg/Th17 ratio. Multiple sclerosis (MS) is a chronic, inflammatory, and neurodegenerative central nervous system (CNS) disorder of probable autoimmune origin. MS is characterized by recurring or progressive demyelination and degeneration of the CNS due in part to a misguided immune response to as yet undefined (CNS) antigens, potentially including myelin basic protein and proteolipid protein...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29593721/vitamin-d-in-human-immunodeficiency-virus-infection-influence-on-immunity-and-disease
#16
REVIEW
María Ángeles Jiménez-Sousa, Isidoro Martínez, Luz María Medrano, Amanda Fernández-Rodríguez, Salvador Resino
People living with human immunodeficiency virus (HIV) infection typically have hypovitaminosis D, which is linked to a large number of pathologies, including immune disorders and infectious diseases. Vitamin D (VitD) is a key regulator of host defense against infections by activating genes and pathways that enhance innate and adaptive immunity. VitD mediates its biological effects by binding to the Vitamin D receptor (VDR), and activating and regulating multiple cellular pathways. Single nucleotide polymorphisms in genes from those pathways have been associated with protection from HIV-1 infection...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29581796/polymorphisms-in-vitamin-d-receptor-genes-in-association-with-childhood-autism-spectrum-disorder
#17
Zengyu Zhang, Sufang Li, Lianfang Yu, Jun Liu
Both genetic and environmental factors have been implicated in the etiology of autism spectrum disorder (ASD). This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. A total of 201 children with ASD and 200 healthy controls from the Han Chinese population were recruited. SNP genotyping was carried out by TaqMan probe-based real-time PCR using genomic DNA extracted from blood cells...
2018: Disease Markers
https://www.readbyqxmd.com/read/29545823/genome-wide-association-study-of-serum-25-hydroxyvitamin-d-in-us-women
#18
Katie M O'Brien, Dale P Sandler, Min Shi, Quaker E Harmon, Jack A Taylor, Clarice R Weinberg
Genetic factors likely influence individuals' concentrations of 25-hydroxyvitamin D [25(OH)D], a biomarker of vitamin D exposure previously linked to reduced risk of several chronic diseases. We conducted a genome-wide association study of serum 25(OH)D (assessed using liquid chromatography-tandem mass spectrometry) and 386,449 single nucleotide polymorphisms (SNPs). Our sample consisted of 1,829 participants randomly selected from the Sister Study, a cohort of women who had a sister with breast cancer but had never had breast cancer themselves...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29529900/association-of-low-penetrance-vitamin-d-receptor-tru9i-rs757343-gene-polymorphism-with-risk-of-premenopausal-breast-cancer
#19
Mehir Un Nisa Iqbal, Syed Amir Maqbool, Taseer Ahmed Khan
Objective The aim of this study was to determine whether a novel polymorphism ( Tru9I) in the low penetrance vitamin D receptor (VDR) gene is associated with risk of premenopausal breast cancer (BC). Methods This case-control study included 228 patients with BC and 503 healthy women living in Pakistan who were analyzed for the VDR Tru9I (rs757343) single nucleotide polymorphism. BC cases were histopathologically confirmed, and all healthy controls were age-matched with patients (age range, 20-45 years). DNA was extracted, and the polymerase chain reaction and restriction fragment length polymorphism assays were performed...
May 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29528271/genetic-polymorphisms-of-vitamin-d3-metabolizing-cyp24a1-and-cyp2r1-enzymes-in-turkish-patients-with-ischemic-stroke
#20
Aysun Türkanoğlu Özçelik, Tuğçe Öner, Birsen Can Demirdöğen, Vedat Semai Bek, Şeref Demirkaya, Orhan Adalı
Objective Vitamin D deficiency is known as an important risk factor in pathogenesis of atherosclerosis, which contributes to stroke development. Genetic variations including single nucleotide polymorphisms (SNPs) in enzymes involved in vitamin D metabolism can affect susceptibility to the development of stroke. Therefore, the objective of this study was to investigate the association between polymorphisms of vitamin D metabolizing enzymes (rs927650 SNP in CYP24A1, and rs10741657 SNP in CYP2R1 genes,) and ischemic stroke risk in Turkish population...
May 2018: Neurological Research
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