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Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes.

https://arctichealth.org/en/permalink/ahliterature47171
Source
Diabetes. 2004 Oct;53(10):2709-12
Publication Type
Article
Date
Oct-2004
Author
Sergey Nejentsev
Jason D Cooper
Lisa Godfrey
Joanna M M Howson
Helen Rance
Sarah Nutland
Neil M Walker
Cristian Guja
Constantin Ionescu-Tirgoviste
David A Savage
Dag E Undlien
Kjersti S Rønningen
Eva Tuomilehto-Wolf
Jaakko Tuomilehto
Kathleen M Gillespie
Susan M Ring
David P Strachan
Barry Widmer
David Dunger
John A Todd
Author Affiliation
Juvenile Diabetes Research Foundation/Wellcome Trust DiabetesInflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, WT/MRC building, Addenbrooke's Hospital, Cambridge, CB2 2XY, UK. sergey.nejentsev@cimr.cam.ac.uk
Source
Diabetes. 2004 Oct;53(10):2709-12
Date
Oct-2004
Language
English
Publication Type
Article
Keywords
Diabetes Mellitus, Type 1 - genetics
Great Britain
Humans
Polymorphism, Single Nucleotide - genetics
Receptors, Calcitriol - genetics
Research Support, Non-U.S. Gov't
Variation (Genetics) - genetics
Abstract
Vitamin D is known to modulate the immune system, and its administration has been associated with reduced risk of type 1 diabetes. Vitamin D acts via its receptor (VDR). Four single nucleotide polymorphisms (SNPs) of the VDR gene have been commonly studied, and evidence of association with type 1 diabetes has been reported previously. We sequenced the VDR gene region and developed its SNP map. Here we analyzed association of the 98 VDR SNPs in up to 3,763 type 1 diabetic families. First, we genotyped all 98 SNPs in a minimum of 458 U.K. families with two affected offspring. We further tested eight SNPs, including four SNPs associated with P
PubMed ID
15448105 View in PubMed
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Association of breast cancer progression with a vitamin D receptor gene polymorphism. South-East Sweden Breast Cancer Group.

https://arctichealth.org/en/permalink/ahliterature21019
Source
Cancer Res. 1999 May 15;59(10):2332-4
Publication Type
Article
Date
May-15-1999
Author
A C Lundin
P. Söderkvist
B. Eriksson
M. Bergman-Jungeström
S. Wingren
Author Affiliation
Department of Biomedicine and Surgery, Faculty of Health Sciences, Linköping, Sweden.
Source
Cancer Res. 1999 May 15;59(10):2332-4
Date
May-15-1999
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Antineoplastic Agents, Hormonal - pharmacology - therapeutic use
Breast Neoplasms - drug therapy - genetics - mortality - pathology
Deoxyribonucleases, Type II Site-Specific
Disease Progression
Estrogen Antagonists - pharmacology - therapeutic use
Female
Genotype
Humans
Incidence
Lymphatic Metastasis - genetics
Middle Aged
Neoplasm Proteins - genetics
Neoplasms, Hormone-Dependent - chemistry - drug therapy - mortality - pathology
Polymorphism, Restriction Fragment Length
Receptors, Calcitriol - genetics
Receptors, Estrogen - analysis
Research Support, Non-U.S. Gov't
Risk
Tamoxifen - pharmacology - therapeutic use
Abstract
The vitamin D3 receptor gene (VDR) contains a TaqI RFLP that is associated with increased VDR mRNA stability, increased serum levels of 1alpha,25-dihydroxyvitamin D3 (1,25-D3), and decreased risk for prostate cancer. Determination of the TaqI genotype, in a group of young women with breast cancer (n = 111; age,
PubMed ID
10344739 View in PubMed
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Association of vitamin D receptor gene polymorphisms with childhood and adult asthma.

https://arctichealth.org/en/permalink/ahliterature179042
Source
Am J Respir Crit Care Med. 2004 Nov 15;170(10):1057-65
Publication Type
Article
Date
Nov-15-2004
Author
Benjamin A Raby
Ross Lazarus
Edwin K Silverman
Steven Lake
Christoph Lange
Mathias Wjst
Scott T Weiss
Author Affiliation
Channing Laboratory, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. benjamin.raby@channing.harvard.edu
Source
Am J Respir Crit Care Med. 2004 Nov 15;170(10):1057-65
Date
Nov-15-2004
Language
English
Publication Type
Article
Keywords
Asthma - diagnosis - epidemiology - genetics
Case-Control Studies
Child
Child, Preschool
Female
Gene Expression Regulation
Genetic Linkage
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Hypersensitivity, Immediate - epidemiology - genetics
Incidence
Male
Polymorphism, Genetic
Probability
Quebec - epidemiology
Receptors, Calcitriol - genetics
Reference Values
Severity of Illness Index
Abstract
Vitamin D receptor (VDR) polymorphisms have been associated with several immune-related diseases, and VDR and vitamin D itself modulate T cell differentiation. VDR maps to chromosome 12q, near a region commonly linked to asthma. We evaluated VDR as part of a 12q positional candidate survey, and in response to observations of VDR polymorphism associations with asthma and atopy in a founder population of Quebec. Twenty-eight loci in 7 positional candidates (7 in VDR) were genotyped in 582 families. Whereas other candidates demonstrated no association, the VDR ApaI polymorphism demonstrated significant transmission distortion, with undertransmission of the C allele in a ratio of 4:5 (p = 0.01). This association was most prominent in girls, in whom distortion was more marked (p = 0.009). Sex-specific associations between multiple VDR polymorphisms and immunoglobulin E levels were also observed (p = 0.006-0.01). Asthma associations were replicated in a second cohort (517 females with asthma and 519 matched control subjects): 4 of 6 VDR variants demonstrated significant association (p = 0.02-0.04). The direction of association in this second cohort was opposite to the effects seen in the trios, but similar to findings in the Quebec study. These results suggest that VDR influences asthma and allergy susceptibility in a complex manner.
PubMed ID
15282200 View in PubMed
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Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy.

https://arctichealth.org/en/permalink/ahliterature179043
Source
Am J Respir Crit Care Med. 2004 Nov 1;170(9):967-73
Publication Type
Article
Date
Nov-1-2004
Author
Audrey H Poon
Catherine Laprise
Mathieu Lemire
Alexandre Montpetit
Donna Sinnett
Erwin Schurr
Thomas J Hudson
Author Affiliation
McGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Source
Am J Respir Crit Care Med. 2004 Nov 1;170(9):967-73
Date
Nov-1-2004
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Distribution
Asthma - diagnosis - epidemiology - genetics
Case-Control Studies
Child
Child, Preschool
Female
Genetic Predisposition to Disease - epidemiology
Genetic Variation
Genotype
Humans
Hypersensitivity - diagnosis - epidemiology - genetics
Male
Middle Aged
Pedigree
Prevalence
Quebec - epidemiology
Receptors, Calcitriol - genetics
Sex Distribution
Abstract
Genome scans for asthma have identified suggestive or significant linkages on 17 different chromosomes, including chromosome 12, region q13-23, housing the vitamin D receptor (VDR) gene. Through interaction with VDR, 1,25-dihydroxyvitamin D3 mediates numerous biological activities, such as regulation of helper T-cell development and subsequent cytokine secretion profiles. Variants of the VDR have been found to be associated with immune-mediated diseases that are characterized by an imbalance in helper T-cell development, such as Crohn's disease and tuberculosis. The VDR, hence, is a good candidate to be investigated for association with asthma, which is characterized by enhanced helper T-cell type 2 activity. Here, we examined VDR genetic variants in an asthma family-based cohort from Quebec. We report six variants to be strongly associated with asthma and four with atopy (0.0005
PubMed ID
15282199 View in PubMed
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Associations between androgen and Vitamin D receptor microsatellites and postmenopausal breast cancer.

https://arctichealth.org/en/permalink/ahliterature84903
Source
Cancer Epidemiol Biomarkers Prev. 2007 Sep;16(9):1775-83
Publication Type
Article
Date
Sep-2007
Author
Wedrén Sara
Magnusson Cecilia
Humphreys Keith
Melhus Håkan
Kindmark Andreas
Stiger Fredrik
Branting Maria
Persson Ingemar
Baron John
Weiderpass Elisabete
Author Affiliation
Department of Etiological Research, The Cancer Registry of Norway, 0310 Oslo, Norway.
Source
Cancer Epidemiol Biomarkers Prev. 2007 Sep;16(9):1775-83
Date
Sep-2007
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Breast Neoplasms - epidemiology - genetics
Case-Control Studies
Female
Genetic Predisposition to Disease
Humans
Microsatellite Repeats - genetics
Middle Aged
Polymorphism, Single Nucleotide
Postmenopause
Receptors, Androgen - genetics
Receptors, Calcitriol - genetics
Risk
Risk factors
Sweden
Abstract
We investigated the association between polymorphism in the androgen receptor (AR) and vitamin D receptor (VDR) genes and breast cancer risk in a large population-based case-control study of genetically homogenous Swedish women. We successfully determined both AR CAG(n) and VDR A(n) genotype in 1,502 women with invasive breast cancer and in 1,510 control women. We did not find any associations between AR or VDR microsatellite lengths and breast cancer when we used a priori determined cutoffs (/=22 repeats for AR and /=19 for VDR) to define long and short alleles. There was statistically significant interaction between VDR genotype and parity, such that women with two short alleles had a halved risk for breast cancer, irrespective of parity, compared with nulliparous women with two long alleles. Homozygosity for the long VDR allele was associated with a more advanced clinical stage at diagnosis. In exploratory analyses, we determined cutoffs based on visual inspection of distributions of allele lengths among cases and controls and found that women carrying two alleles with /=20 repeats. Women carrying two VDR alleles with
PubMed ID
17855696 View in PubMed
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Associations between polymorphisms related to calcium metabolism and human height: the Tromsø Study.

https://arctichealth.org/en/permalink/ahliterature126446
Source
Ann Hum Genet. 2012 May;76(3):200-10
Publication Type
Article
Date
May-2012
Author
Rolf Jorde
Johan Svartberg
Ragnar Martin Joakimsen
Guri Grimnes
Author Affiliation
Tromsø Endocrine Research Group, Department of Clinical Medicine, University of Tromsø, Norway. rolf.jorde@unn.no
Source
Ann Hum Genet. 2012 May;76(3):200-10
Date
May-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Body Height - genetics
Calcium - blood - metabolism
Female
Humans
Male
Middle Aged
Parathyroid Hormone - blood
Phosphates - blood
Polymorphism, Single Nucleotide
Receptors, Calcitriol - genetics
Vitamin D - analogs & derivatives - blood
Abstract
A number of single nucleotide polymorphisms (SNPs) related to height have been detected. Calcium metabolism is important for the skeleton and accordingly also for adult height. Therefore, in the present study, nine SNPs related to the vitamin D receptor (VDR) gene and serum levels of 25-hydroxyvitamin D (25(OH)D), calcium, phosphate and parathyroid hormone (PTH) were related to height in 9471 subjects. Relation with height was evaluated with linear regression for trend across SNP genotypes with age and gender as covariates. After correcting for multiple testing, significant associations with height were found for two SNPs related to the VDR gene (rs1544410 (Bsml) and rs7975232 (Apal)), one SNP related to serum 25(OH)D (rs3829251 at the DHCR7/NADSYN1 gene), one SNP related to serum calcium (rs1459015 at the PTH gene) and one SNP related to serum phosphate (rs1697421 at the ALPL gene). For rs3829251, the mean differences in height between major and minor homozygotes were 1.5-2.0 cm (P
PubMed ID
22390397 View in PubMed
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[Breast density: a biomarker to better understand and prevent breast cancer].

https://arctichealth.org/en/permalink/ahliterature167463
Source
Bull Cancer. 2006 Sep;93(9):847-55
Publication Type
Article
Date
Sep-2006
Author
Jacques Brisson
Sylvie Bérubé
Caroline Diorio
Author Affiliation
Unité de recherche en santé des populations (URESP), Centre hospitalier affilié universitaire de Québec, 1050 chemin Sainte-Foy, Québec, Qc, Canada G1S 4L8. jacques.brisson@uresp.ulaval.ca
Source
Bull Cancer. 2006 Sep;93(9):847-55
Date
Sep-2006
Language
French
Publication Type
Article
Keywords
25-Hydroxyvitamin D 2 - blood
Antineoplastic Agents, Hormonal - therapeutic use
Breast - drug effects - pathology
Breast Neoplasms - blood - pathology - prevention & control
Calcium, Dietary - administration & dosage - blood
Female
Humans
Mammography
Polymorphism, Genetic
Premenopause
Quebec
Receptors, Calcitriol - genetics
Risk assessment
Somatomedins - genetics - metabolism
Tamoxifen - therapeutic use
Tumor Markers, Biological - blood
Vitamin D - administration & dosage - analogs & derivatives - blood
Abstract
In Quebec, cancer is the principal cause of mortality. This epidemiologic research program includes two components. The first component takes place at the "Institut national de santé publique du Québec" and involves surveillance and evaluation of practices in oncology with the aim of providing the Quebec Ministry of Health with some of the evidence needed to determine its policies in cancer control. The second component takes place at the "Unité de recherche en santé des populations (URESP)" of Laval University and is devoted to studying the etiology and prevention of breast cancer. This paper focuses on this second research component which uses mammographic breast density as an intermediate biomarker to study the causes of breast cancer and strategies to prevent it. Breast cancer risk is much higher among women with very dense breasts than among those with little or no breast density. Recently, we were among the first to show that women with high vitamin D or calcium intakes have less breast density than those with low intakes, especially among premenopausal women. Furthermore, we have confirmed that breast density was increased among premenopausal women with high levels of IGF-I and low levels of IGFBP3 which is consistent with the observed effect of these molecules on breast cancer risk. Studies are now being conducted to assess whether breast density varies according to blood levels of vitamin D and of additional growth factors, as well as to genetic polymorphisms involved in the pathways of vitamin D, calcium and growth factors. The increase in vitamin D and calcium intakes may prove to be a safe and inexpensive approach to breast cancer prevention; this possibility should be carefully examined as quickly as possible.
PubMed ID
16980227 View in PubMed
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Common genetic variants are associated with lower serum 25-hydroxyvitamin D concentrations across the year among children at northern latitudes.

https://arctichealth.org/en/permalink/ahliterature284117
Source
Br J Nutr. 2017 Mar;117(6):829-838
Publication Type
Article
Date
Mar-2017
Author
Rikke A Petersen
Lesli H Larsen
Camilla T Damsgaard
Louise B Sørensen
Mads F Hjorth
Rikke Andersen
Inge Tetens
Henrik Krarup
Christian Ritz
Arne Astrup
Kim F Michaelsen
Christian Mølgaard
Source
Br J Nutr. 2017 Mar;117(6):829-838
Date
Mar-2017
Language
English
Publication Type
Article
Keywords
Alleles
Child
Cholestanetriol 26-Monooxygenase - genetics
Cytochrome P450 Family 2 - genetics
Denmark
Female
Genetic Predisposition to Disease
Genotype
Humans
Male
Oxidoreductases Acting on CH-CH Group Donors - genetics
Polymorphism, Single Nucleotide
Receptors, Calcitriol - genetics
Schools
Seasons
Ultraviolet Rays
Vitamin D - analogs & derivatives - blood
Vitamin D Deficiency - blood - genetics
Vitamin D-Binding Protein - genetics
Abstract
In a longitudinal study including 642 healthy 8-11-year-old Danish children, we investigated associations between vitamin D dependent SNP and serum 25-hydroxyvitamin D (25(OH)D) concentrations across a school year (August-June). Serum 25(OH)D was measured three times for every child, which approximated measurements in three seasons (autumn, winter, spring). Dietary and supplement intake, physical activity, BMI and parathyroid hormone were likewise measured at each time point. In all, eleven SNP in four vitamin D-related genes: Cytochrome P450 subfamily IIR1 (CYP2R1); 7-dehydrocholesterol reductase/nicotinamide adenine dinucleotide synthetase-1(DHCR7/NADSYN1); group-specific complement (GC); and vitamin D receptor were genotyped. We found minor alleles of CYP2R1 rs10500804, and of GC rs4588 and rs7041 to be associated with lower serum 25(OH)D concentrations across the three seasons (all P
PubMed ID
28382877 View in PubMed
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Determinants of peak bone mass: clinical and genetic analyses in a young female Canadian cohort.

https://arctichealth.org/en/permalink/ahliterature202198
Source
J Bone Miner Res. 1999 Apr;14(4):633-43
Publication Type
Article
Date
Apr-1999
Author
L A Rubin
G A Hawker
V D Peltekova
L J Fielding
R. Ridout
D E Cole
Author Affiliation
Division of Rheumatology, Sunnybrook and Women's College Health Sciences Centre, Toronto, Ontario, Canada.
Source
J Bone Miner Res. 1999 Apr;14(4):633-43
Date
Apr-1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Bone Density - genetics - physiology
Canada
Cohort Studies
Female
Genotype
Haplotypes
Hip
Humans
Multivariate Analysis
Osteoporosis - etiology - genetics - physiopathology
Receptors, Calcitriol - genetics
Risk factors
Spine
Abstract
Peak bone mass has been shown to be a significant predictor of risk for osteoporosis. Previous studies have demonstrated that skeletal mass accumulation is under strong genetic control, and efforts have been made to identify candidate loci. Determinants of peak bone mass also include diet, physical activity, hormonal status, and other clinical factors. The overall contribution of these factors, genetic and nongenetic, and their interaction in determining peak bone density status have not been delineated. Six hundred and seventy-seven healthy unrelated Caucasian women ages 18-35 years were assessed. A detailed, standardized interview was conducted to evaluate lifestyle factors, menstrual and reproductive history, medical conditions, medication use, and family history of osteoporosis. Bone mineral density (BMD) was measured at the lumbar spine (L2-L4) and the femoral neck (hip) using dual-energy X-ray absorptiometry. Genotyping of the vitamin D receptor (VDR) locus at three polymorphic sites (BsmI, ApaI, and TaqI) was performed. In bivariate analyses, BMD at the lumbar spine and hip was positively correlated with weight, height, body mass index (BMI), and level of physical activity, both now and during adolescence, but negatively correlated with a family history of osteoporosis. Hip, but not spine BMD, correlated positively with dietary intake of calcium, and negatively with amenorrhea of more than 3 months, with caffeine intake, and with age. Spine, but not hip BMD, correlated positively with age and with number of pregnancies. VDR haplotype demonstrated significant associations with BMD at the hip, level of physical activity currently, and BMI. In multivariate analysis, independent predictors of greater BMD (at the hip or spine) were: age (younger for the hip, older for the spine), greater body weight, greater height (hip only), higher level of physical activity now and during adolescence, no family history of osteoporosis, and VDR genotype (hip only). Weight, age, level of physical activity, and family history are independent predictors of peak BMD. Of these factors, weight accounts for over half the explained variability in BMD. VDR alleles are significant independent predictors of peak femoral neck, but not lumbar spine BMD, even after adjusting for family history of osteoporosis, weight, age, and exercise. However, the overall contribution of this genetic determinant is modest. Taken together, these factors explained approximately 17% and 21% of the variability in peak spine and hip BMD, respectively, in our cohort. Future research should be aimed at further evaluation of genetic determinants of BMD. Most importantly, understanding the critical interactive nature between genes and the environment will facilitate development of targeted strategies directed at modifying lifestyle factors as well as earlier intervention in the most susceptible individuals.
PubMed ID
10234586 View in PubMed
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The distribution of two different vitamin D receptor polymorphisms (BsmI and start codon) in primary hyperparathyroidism.

https://arctichealth.org/en/permalink/ahliterature199531
Source
J Intern Med. 2000 Jan;247(1):124-30
Publication Type
Article
Date
Jan-2000
Author
M. Sosa
A. Torres
N. Martín
E. Salido
J M Limiñana
Y. Barrios
E. De Miguel
P. Betancor
Author Affiliation
Department of Medicine, University Hospital Insular, Bone Metabolic Unit, University of Las Palmas de Gran Canaria, Las Palmas, Canary Islands, Spain. msosa@cicei.ulpgc.es
Source
J Intern Med. 2000 Jan;247(1):124-30
Date
Jan-2000
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Bone Density
Case-Control Studies
DNA Primers
Deoxyribonucleases, Type II Site-Specific - genetics
Female
Genotype
Germany
Humans
Hyperparathyroidism - genetics - metabolism
Middle Aged
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Postmenopause
Receptors, Calcitriol - genetics
Sweden
Abstract
The bb genotype of the BsmI polymorphism of the vitamin D receptor (VDR) is more common in primary hyperparathyroidism (HPT) than in the general population in Swedish and German women. However, little is known about the association of HPT with the start codon polymorphism of the VDR (defined by FokI).
To study the distribution of the VDR genotypes in a group of women with HPT compared with a control group. The bone mineral density (BMD) of different genotypes was also investigated.
VDR alleles were typed by polymerase chain reaction (PCR) assay around the polymorphic BsmI or FokI restriction sites in 67 control women (48.5 +/- 10 years) and 53 women with HPT (61.4 +/- 11 years). They were all Caucasian and born in the Canary Islands. Lumbar and proximal femur BMDs were measured by dual X-ray absorptiometry (DXA) and quantitative computed tomography (QCT).
The 'bb' genotype was equally frequent in controls and HPT subjects (46.3 and 45.3%, respectively). There was a trend towards a lower prevalence of the FF genotype amongst women with HPT as compared with controls (41.5 vs. 57.1%; P = 0.09). BMD was lower in patients with HPT compared with controls in the lumbar spine and the proximal femur.
The association of the BsmI polymorphism of the VDR gene with HPT is not applicable to all geographical areas. In Canarian postmenopausal women suffering from HPT, VDR genotype distribution is similar to that found in controls. A possible association of HPT with the FokI polymorphism deserves further investigation.
PubMed ID
10672140 View in PubMed
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41 records – page 1 of 5.