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FTO genotype and weight gain in obese and normal weight adults from a Norwegian population based cohort (the HUNT study).

https://arctichealth.org/en/permalink/ahliterature144391
Source
Exp Clin Endocrinol Diabetes. 2010 Oct;118(9):649-52
Publication Type
Article
Date
Oct-2010
Author
T. Wangensteen
T. Egeland
H. Akselsen
J. Holmen
D. Undlien
L. Retterstøl
Author Affiliation
Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway. teresia.wangensteen@medisin.uio.no
Source
Exp Clin Endocrinol Diabetes. 2010 Oct;118(9):649-52
Date
Oct-2010
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Case-Control Studies
Cohort Studies
Female
Follow-Up Studies
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genetics, Population
Genotype
Humans
Ideal Body Weight - genetics
Male
Middle Aged
Norway
Obesity - genetics
Polymorphism, Single Nucleotide
Proteins - genetics
Weight Gain - genetics
Abstract
The fat mass and obesity associated gene ( FTO) is associated with bodyweight and obesity. The aim of this study was to investigate if FTO genotype affects weight gain in adulthood. We investigated the weight development over a period of 11 years in a case-control study, consisting of 1,632 cases (BMI=35 kg/m (2)) and 3,379 normal weight controls (BMI 20-24.9 kg/m (2)) from a Norwegian population based cohort, the HUNT study. Subjects were aged 20-80 at baseline, 25% men and 75% women. FTO genotype was assessed by genotyping of the SNP rs1421085. A strong association between FTO and obesity was found, consistent with an additive gene effect. Cases had an average weight gain of 11.1 kg, whereas controls had an average weight gain of 1.4 kg. Genotype was neither associated with weight gain in obese, nor controls. Cases had an average weight gain of 10.7 kg for individuals with zero risk alleles, 11.3 for one risk allele and 11.1 kg for two risk alleles. Controls had an average weight gain of 1.4 kg, 1.4 and 1.3 for the respective genotypes. In conclusion, FTO was associated with obesity, but not with weight gain in adults during 11 years of follow-up.
PubMed ID
20373279 View in PubMed
Less detail

ARNTL (BMAL1) and NPAS2 gene variants contribute to fertility and seasonality.

https://arctichealth.org/en/permalink/ahliterature144427
Source
PLoS One. 2010;5(4):e10007
Publication Type
Article
Date
2010
Author
Leena Kovanen
Sirkku T Saarikoski
Arpo Aromaa
Jouko Lönnqvist
Timo Partonen
Author Affiliation
Department of Mental Health and Substance Abuse Services, National Institute for Health and Welfare, Helsinki, Finland.
Source
PLoS One. 2010;5(4):e10007
Date
2010
Language
English
Publication Type
Article
Keywords
ARNTL Transcription Factors - genetics
Basic Helix-Loop-Helix Transcription Factors - genetics
Circadian Rhythm
Energy Metabolism
Female
Fertility - genetics
Finland
Genotype
Humans
Male
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide
Reproduction - genetics
Seasons
Abstract
Circadian clocks guide the metabolic, cell-division, sleep-wake, circadian and seasonal cycles. Abnormalities in these clocks may be a health hazard. Circadian clock gene polymorphisms have been linked to sleep, mood and metabolic disorders. Our study aimed to examine polymorphisms in four key circadian clock genes in relation to seasonal variation, reproduction and well-being in a sample that was representative of the general population, aged 30 and over, living in Finland.
Single-nucleotide polymorphisms in the ARNTL, ARNTL2, CLOCK and NPAS2 genes were genotyped in 511 individuals. 19 variants were analyzed in relation to 31 phenotypes that were assessed in a health interview and examination study. With respect to reproduction, women with ARNTL rs2278749 TT genotype had more miscarriages and pregnancies, while NPAS2 rs11673746 T carriers had fewer miscarriages. NPAS2 rs2305160 A allele carriers had lower Global Seasonality Scores, a sum score of six items i.e. seasonal variation of sleep length, social activity, mood, weight, appetite and energy level. Furthermore, carriers of A allele at NPAS2 rs6725296 had greater loadings on the metabolic factor (weight and appetite) of the global seasonality score, whereas individuals with ARNTL rs6290035 TT genotype experienced less seasonal variation of energy level.
ARNTL and NPAS2 gene variants were associated with reproduction and with seasonal variation. Earlier findings have linked ARNTL to infertility in mice, but this is the first time when any polymorphism of these genes is linked to fertility in humans.
Notes
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PubMed ID
20368993 View in PubMed
Less detail

The rs1800629 polymorphism in the TNF gene interacts with physical activity on the changes in C-reactive protein levels in the Finnish Diabetes Prevention Study.

https://arctichealth.org/en/permalink/ahliterature144516
Source
Exp Clin Endocrinol Diabetes. 2010 Nov;118(10):757-9
Publication Type
Article
Date
Nov-2010
Author
T O Kilpeläinen
D E Laaksonen
T A Lakka
C. Herder
W. Koenig
J. Lindström
J G Eriksson
M. Uusitupa
H. Kolb
M. Laakso
J. Tuomilehto
Author Affiliation
Institute of Biomedicine, Physiology, University of Kuopio, Kuopio, Finland. tuomas.kilpelainen@mrc-epid.cam.ac.uk
Source
Exp Clin Endocrinol Diabetes. 2010 Nov;118(10):757-9
Date
Nov-2010
Language
English
Publication Type
Article
Keywords
C-Reactive Protein - analysis
Diabetes Mellitus, Type 2 - prevention & control
Female
Finland
Genetic Association Studies
Glucose Intolerance
Humans
Interleukin-6 - genetics
Male
Motor Activity - physiology
Overweight - blood - therapy
Polymorphism, Single Nucleotide
Promoter Regions, Genetic - genetics
Time Factors
Tumor Necrosis Factor-alpha - genetics
Abstract
Physical activity exerts anti-inflammatory effects, but genetic variation may modify its influence. In particular, the rs1800629 single-nucleotide polymorphism (SNP) in the tumor necrosis factor ( TNF) gene and the rs1800795 SNP in the interleukin-6 ( IL6) gene have been found to modify the effect of exercise training on circulating levels of C-reactive protein (CRP) and IL-6, respectively. We assessed whether rs1800629 and rs1800795 modified the effect of moderate-to-vigorous physical activity on changes in serum levels of high-sensitivity CRP and IL-6 in the Finnish Diabetes Prevention Study (DPS). Genotype and 1-year data on changes in physical activity, serum CRP and IL-6 were available for 390 overweight subjects with impaired glucose tolerance. The rs1800629 SNP in TNF interacted with the 1-year change in moderate-to-vigorous physical activity on changes in CRP among those who had high (=3 mg/L) baseline CRP levels ( P = 0.034 for interaction). Carriers of the GG genotype showed a greater decrease in CRP with increasing physical activity than the individuals with the A allele. No interaction between the rs1800795 SNP in IL6 and changes in moderate-to-vigorous physical activity on the 1-year change in serum IL-6 was found. In conclusion, the rs1800629 SNP in the TNF gene may modify the effect of moderate-to-vigorous physical activity on serum levels of CRP.
PubMed ID
20361391 View in PubMed
Less detail

Interleukin 18 receptor 1 expression distinguishes patients with multiple sclerosis.

https://arctichealth.org/en/permalink/ahliterature144570
Source
Mult Scler. 2010 Sep;16(9):1056-65
Publication Type
Article
Date
Sep-2010
Author
Alan Gillett
Melanie Thessen Hedreul
Mohsen Khademi
Alexander Espinosa
Amennai D Beyeen
Maja Jagodic
Ingrid Kockum
Robert A Harris
Tomas Olsson
Author Affiliation
Department of Clinical Neuroscience, Neuroimmunology Unit, Center for Molecular Medicine, Karolinska Institutet, Solna, Sweden. alan.gillett@ki.se
Source
Mult Scler. 2010 Sep;16(9):1056-65
Date
Sep-2010
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Case-Control Studies
Female
Genetic Association Studies
Haplotypes
Humans
Interleukin-18 Receptor alpha Subunit - genetics
Linkage Disequilibrium
Male
Middle Aged
Multiple Sclerosis, Chronic Progressive - genetics - immunology
Multiple Sclerosis, Relapsing-Remitting - genetics - immunology
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
RNA, Messenger - blood - cerebrospinal fluid
Sweden
Up-Regulation
Young Adult
Abstract
Definition of dysregulated immune components in multiple sclerosis may help in the identification of new therapeutic targets. Deviation of the interleukin 18 receptor 1 (IL18R1) is of particular interest since the receptor is critical for experimental neuroinflammation. The objective of this study was to determine whether expression of IL18R1 varies between multiple sclerosis patients and controls, and to test genetic association of IL18R1 with multiple sclerosis. We used quantitative real-time PCR to assess mRNA levels of IL18R1 in cerebrospinal fluid and peripheral blood mononuclear cells of 191 patients with multiple sclerosis, 61 patients with clinically isolated syndrome and 168 controls having other neurological disorders. Association was tested in 2153 patients with multiple sclerosis and 1733 controls using 13 tagging single nucleotide polymorphisms within the IL18R1 gene. We found that patients with multiple sclerosis had increased IL18R1 mRNA expression in both cerebrospinal fluid cells (p
PubMed ID
20354066 View in PubMed
Less detail

Newborn serum retinoic acid level is associated with variants of genes in the retinol metabolism pathway.

https://arctichealth.org/en/permalink/ahliterature144723
Source
Pediatr Res. 2010 Jun;67(6):598-602
Publication Type
Article
Date
Jun-2010
Author
Daniel C Manolescu
Reyhan El-Kares
Lajmi Lakhal-Chaieb
Alexandre Montpetit
Pangala V Bhat
Paul Goodyer
Author Affiliation
Department of Medicine, University of Montreal, and Department of Pediatrics, Montreal Children's Hospital Research Institute, Montreal, Quebec H3Z 2Z3, Canada.
Source
Pediatr Res. 2010 Jun;67(6):598-602
Date
Jun-2010
Language
English
Publication Type
Article
Keywords
Chi-Square Distribution
European Continental Ancestry Group - genetics
Female
Fetal Blood - metabolism
Gene Frequency
Genotype
Homozygote
Humans
Infant, Newborn
Male
Phenotype
Polymorphism, Single Nucleotide
Quebec
Receptors, Retinoic Acid - genetics - metabolism
Retinal Dehydrogenase - genetics - metabolism
Tretinoin - blood
Vitamin A - blood
Abstract
Retinoic acid (RA) is a critical regulator of gene expression during embryonic development. In rodents, moderate maternal vitamin A deficiency leads to subtle morphogenetic defects and inactivation of RA pathway genes causes major disturbances of embryogenesis. In this study, we quantified RA in umbilical cord blood of 145 healthy full-term Caucasian infants from Montreal. Sixty seven percent of values were
PubMed ID
20308937 View in PubMed
Less detail

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

https://arctichealth.org/en/permalink/ahliterature144728
Source
J Clin Oncol. 2010 Apr 20;28(12):1995-2001
Publication Type
Article
Date
Apr-20-2010
Author
Uri Tabori
Adam Shlien
Berivan Baskin
Sarah Levitt
Peter Ray
Noa Alon
Cynthia Hawkins
Eric Bouffet
Malgorzata Pienkowska
Lucie Lafay-Cousin
Alexa Gozali
Nataliya Zhukova
Lisa Shane
Ignacio Gonzalez
Jonathan Finlay
David Malkin
Author Affiliation
The Hospital for Sick Children, Division of Hematology/Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada.
Source
J Clin Oncol. 2010 Apr 20;28(12):1995-2001
Date
Apr-20-2010
Language
English
Publication Type
Article
Keywords
Carcinoma - chemistry - genetics - mortality - therapy
Chi-Square Distribution
Child
Child, Preschool
Choroid Plexus Neoplasms - chemistry - genetics - mortality - therapy
Databases as Topic
Disease-Free Survival
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Immunohistochemistry
Kaplan-Meier Estimate
Oligonucleotide Array Sequence Analysis
Ontario - epidemiology
Papilloma, Choroid Plexus - chemistry - genetics - mortality - therapy
Phenotype
Polymorphism, Single Nucleotide
Time Factors
Treatment Outcome
Tumor Suppressor Protein p53 - analysis - genetics
United States - epidemiology
Abstract
PURPOSE Choroid plexus carcinomas are pediatric tumors with poor survival rates and a strong, but poorly understood, association with Li-Fraumeni syndrome (LFS). Currently, with lack of biologic predictors, most children are treated with aggressive chemoradiation protocols. PATIENTS AND METHODS We established a multi-institutional tissue and clinical database, which enabled the analysis of specific alterations of the TP53 tumor suppressor and its modifiers in choroid plexus tumors (CPTs). We conducted high-resolution copy-number analysis to correlate these genetic parameters with family history and outcome. Results We studied 64 patients with CPTs. All individuals with germline TP53 mutations fulfilled LFS criteria, whereas all patients not meeting these criteria harbored wild-type TP53 (P
PubMed ID
20308654 View in PubMed
Less detail

A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.

https://arctichealth.org/en/permalink/ahliterature144763
Source
J Gerontol A Biol Sci Med Sci. 2010 May;65(5):478-87
Publication Type
Article
Date
May-2010
Author
Anne B Newman
Stefan Walter
Kathryn L Lunetta
Melissa E Garcia
P Eline Slagboom
Kaare Christensen
Alice M Arnold
Thor Aspelund
Yurii S Aulchenko
Emelia J Benjamin
Lene Christiansen
Ralph B D'Agostino
Annette L Fitzpatrick
Nora Franceschini
Nicole L Glazer
Vilmundur Gudnason
Albert Hofman
Robert Kaplan
David Karasik
Margaret Kelly-Hayes
Douglas P Kiel
Lenore J Launer
Kristin D Marciante
Joseph M Massaro
Iva Miljkovic
Michael A Nalls
Dena Hernandez
Bruce M Psaty
Fernando Rivadeneira
Jerome Rotter
Sudha Seshadri
Albert V Smith
Kent D Taylor
Henning Tiemeier
Hae-Won Uh
André G Uitterlinden
James W Vaupel
Jeremy Walston
Rudi G J Westendorp
Tamara B Harris
Thomas Lumley
Cornelia M van Duijn
Joanne M Murabito
Author Affiliation
Department of Epidemiology, Graduate School of Public Health, 130 North Bellefield Avenue, Suite 500, University of Pittsburgh, Pittsburgh, PA 15213, USA. newmana@edc.pitt.edu
Source
J Gerontol A Biol Sci Med Sci. 2010 May;65(5):478-87
Date
May-2010
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aged
Aged, 80 and over
Alleles
Cohort Studies
Confidence Intervals
Female
Genome-Wide Association Study
Genotype
Humans
Longevity - genetics
Male
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide - genetics
Abstract
Genome-wide association studies (GWAS) may yield insights into longevity.
We performed a meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955). In a second discovery stage, additional genotyping was conducted in the Leiden Longevity Study cohort and the Danish 1905 cohort.
There were 273 single-nucleotide polymorphism (SNP) associations with p
Notes
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PubMed ID
20304771 View in PubMed
Less detail

Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.

https://arctichealth.org/en/permalink/ahliterature144779
Source
BMC Med Genomics. 2010;3:9
Publication Type
Article
Date
2010
Author
Margarethe Biong
Inger T Gram
Ilene Brill
Fredrik Johansen
Hiroko K Solvang
Grethe I G Alnaes
Toril Fagerheim
Yngve Bremnes
Stephen J Chanock
Laurie Burdett
Meredith Yeager
Giske Ursin
Vessela N Kristensen
Author Affiliation
Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Montebello 0310, Oslo, Norway.
Source
BMC Med Genomics. 2010;3:9
Date
2010
Language
English
Publication Type
Article
Keywords
Aged
Body mass index
Breast Neoplasms - blood - diagnosis - genetics
Carrier Proteins - blood - genetics
Female
Genotype
Glycoproteins - blood - genetics
Haplotypes
Humans
Insulin-Like Growth Factor Binding Protein 3
Insulin-Like Growth Factor Binding Proteins - blood - genetics
Insulin-Like Growth Factor I - analysis - genetics
Insulin-Like Growth Factor II - analysis - genetics
Mammography
Middle Aged
Polymorphism, Single Nucleotide
Receptor, IGF Type 1 - blood - genetics
Receptor, IGF Type 2 - blood - genetics
Tumor Markers, Biological - blood - genetics
Abstract
Increased mammographic density is one of the strongest independent risk factors for breast cancer. It is believed that one third of breast cancers are derived from breasts with more than 50% density. Mammographic density is affected by age, BMI, parity, and genetic predisposition. It is also greatly influenced by hormonal and growth factor changes in a woman's life cycle, spanning from puberty through adult to menopause. Genetic variations in genes coding for hormones and growth factors involved in development of the breast are therefore of great interest. The associations between genetic polymorphisms in genes from the IGF pathway on mammographic density and circulating levels of IGF1, its binding protein IGFBP3, and their ratio in postmenopausal women are reported here.
Samples from 964 postmenopausal Norwegian women aged 55-71 years were collected as a part of the Tromsø Mammography and Breast Cancer Study. All samples were genotyped for 25 SNPs in IGF1, IGF2, IGF1R, IGF2R, IGFALS and IGFBP3 using Taqman (ABI). The main statistical analyses were conducted with the PROC HAPLOTYPE procedure within SAS/GENETICS (SAS 9.1.3).
The haplotype analysis revealed six haploblocks within the studied genes. Of those, four had significant associations with circulating levels of IGF1 or IGFBP3 and/or mammographic density. One haplotype variant in the IGF1 gene was found to be associated with mammographic density. Within the IGF2 gene one haplotype variant was associated with levels of both IGF1 and IGFBP3. Two haplotype variants in the IGF2R were associated with the level of IGF1. Both variants of the IGFBP3 haplotype were associated with the IGFBP3 level and indicate regulation in cis.
Polymorphisms within the IGF1 gene and related genes were associated with plasma levels of IGF1, IGFBP3 and mammographic density in this study of postmenopausal women.
Notes
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PubMed ID
20302654 View in PubMed
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Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

https://arctichealth.org/en/permalink/ahliterature144822
Source
Clin Genet. 2010 Oct;78(4):388-97
Publication Type
Article
Date
Oct-2010
Author
S. Dad
E. Østergaard
T. Thykjaer
A. Albrectsen
K. Ravn
T. Rosenberg
L B Møller
Author Affiliation
Kennedy Center, Gl. Landevej 7, Glostrup, Denmark.
Source
Clin Genet. 2010 Oct;78(4):388-97
Date
Oct-2010
Language
English
Publication Type
Article
Keywords
Base Sequence
Cataract - congenital - embryology - genetics
Chromosome Mapping
Chromosomes, Human, Pair 15 - genetics
Consanguinity
DNA Mutational Analysis
Denmark
Female
Genetic Linkage
Genetic Loci
Genotype
Humans
Lod Score
Male
Mutation
Netherlands
Pedigree
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Retinitis Pigmentosa - genetics
Sequence Analysis, DNA
Usher Syndromes - genetics
Abstract
Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic deafness locus DFNB48.
PubMed ID
20236115 View in PubMed
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Susceptibility loci reported in genome-wide association studies are associated with Crohn's disease in Canadian children.

https://arctichealth.org/en/permalink/ahliterature144925
Source
Aliment Pharmacol Ther. 2010 Jun;31(11):1186-91
Publication Type
Article
Date
Jun-2010
Author
D K Amre
D R Mack
K. Morgan
D. Israel
C. Deslandres
E G Seidman
P. Lambrette
I. Costea
A. Krupoves
H. Fegury
J. Dong
G. Grimard
E. Levy
Author Affiliation
Department of Pediatrics, University of Montreal, QC, Canada. devendra.amre@umontreal.ca
Source
Aliment Pharmacol Ther. 2010 Jun;31(11):1186-91
Date
Jun-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Age of Onset
Canada - epidemiology
Case-Control Studies
Child
Child, Preschool
Crohn Disease - epidemiology - genetics
Female
Genetic Loci - genetics
Genetic Predisposition to Disease - epidemiology
Genome
Genome-Wide Association Study
Genotype
Humans
Male
Polymorphism, Single Nucleotide
Risk factors
Abstract
Recent genome-wide association studies based on adult and paediatric populations have implicated >30 genes/loci as susceptibility loci for Crohn's disease (CD).
To investigate whether reported genes/loci were also associated with CD in Canadian children.
A case-control design was implemented at three paediatric gastroenterology clinics in Canada. Children
PubMed ID
20222910 View in PubMed
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