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ß2-adrenergic receptor Thr164Ile polymorphism, obesity, and diabetes: comparison with FTO, MC4R, and TMEM18 polymorphisms in more than 64,000 individuals.

https://arctichealth.org/en/permalink/ahliterature125626
Source
J Clin Endocrinol Metab. 2012 Jun;97(6):E1074-9
Publication Type
Article
Date
Jun-2012
Author
Mette Thomsen
Morten Dahl
Anne Tybjærg-Hansen
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
Source
J Clin Endocrinol Metab. 2012 Jun;97(6):E1074-9
Date
Jun-2012
Language
English
Publication Type
Article
Keywords
Adult
Body mass index
Cohort Studies
Denmark - epidemiology
Diabetes Mellitus - epidemiology - genetics
Female
Genetic Predisposition to Disease - epidemiology - genetics
Genotype
Humans
Male
Membrane Proteins - genetics
Obesity - epidemiology - genetics
Polymorphism, Single Nucleotide - genetics
Proteins - genetics
Receptor, Melanocortin, Type 4 - genetics
Receptors, Adrenergic, beta-2 - genetics
Risk factors
Abstract
The ß(2)-adrenergic receptor (ADRB2) influences regulation of energy balance by stimulating catecholamine-induced lipolysis in adipose tissue. The rare functional ADRB2rs1800888(Thr164Ile) polymorphism could therefore influence risk of obesity and subsequently diabetes.
We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obesity and diabetes and compared effect sizes with those of FTO(rs9939609), MC4R(rs17782313), and TMEM18(rs6548238).
We conducted a population-based cohort study in Copenhagen, Denmark.
We genotyped more than 64,000 individuals from the Danish general population.
We evaluated body mass index (BMI), obesity (BMI =30 kg/m(2)), and diabetes.
Rare allele frequencies were 0.02 for T for ADRB2rs1800888(Thr164Ile), 0.40 for A for FTOrs9939609, 0.25 for C for MC4Rrs17782313, and 0.20 for T for TMEM18rs6548238. For rare vs. common homozygotes, odds ratio for obesity was 3.32 (95% confidence interval = 1.08-10.19) for ADRB2rs1800888(Thr164Ile), 1.42 (1.35-1.52) for FTOrs9939609, 1.18 (1.06-1.30) for MC4Rrs17782313, and 1.28 (1.10-1.50) for TMEM18rs6548238 (common vs. rare). Corresponding odds ratios for diabetes were 1.85 (0.24-14.29), 1.22 (1.07-1.39), 0.96 (0.80-1.16), and 1.61 (1.17-2.22), respectively. After adjustment for BMI, only TMEM18rs6548238 remained associated with diabetes. BMI was increased in rare vs. common homozygotes in FTOrs9939609, MC4Rrs17782313, and TMEM18rs6548238 (common vs. rare) but not in ADRB2rs1800888(Thr164Ile).
Our results suggest that ADRB2rs1800888(Thr164Ile) rare vs. common homozygotes are not significantly associated with an increase in BMI measured continuously but may be associated with an increased risk of obesity. Also, TMEM18rs6548238 associated with risk of diabetes after adjustment for BMI. These findings need confirmation in other studies.
PubMed ID
22466342 View in PubMed
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3'-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity.

https://arctichealth.org/en/permalink/ahliterature273744
Source
Fam Cancer. 2015 Sep;14(3):449-53
Publication Type
Article
Date
Sep-2015
Author
Johanna Kondelin
Sari Tuupanen
Alexandra E Gylfe
Mervi Aavikko
Laura Renkonen-Sinisalo
Heikki Järvinen
Jan Böhm
Jukka-Pekka Mecklin
Claus L Andersen
Pia Vahteristo
Esa Pitkänen
Lauri A Aaltonen
Source
Fam Cancer. 2015 Sep;14(3):449-53
Date
Sep-2015
Language
English
Publication Type
Article
Keywords
3' Untranslated Regions
Calmodulin-Binding Proteins - genetics
Colorectal Neoplasms - genetics
Denmark
Finland
Humans
Microsatellite Instability
Polyribonucleotides - genetics
RNA-Binding Proteins - genetics
Repetitive Sequences, Nucleic Acid
Abstract
Approximately 15% of colorectal cancers exhibit instability of short nucleotide repeat regions, microsatellites. These tumors display a unique clinicopathologic profile and the microsatellite instability status is increasingly used to guide clinical management as it is known to predict better prognosis as well as resistance to certain chemotherapeutics. A panel of five repeats determined by the National Cancer Institute, the Bethesda panel, is currently the standard for determining the microsatellite instability status in colorectal cancer. Recently, a quasimonomorphic mononucleotide repeat 16T/U at the 3' untranslated region of the Ewing sarcoma breakpoint region 1 gene was reported to show perfect sensitivity and specificity in detecting mismatch repair deficient colorectal, endometrial, and gastric cancers in two independent populations. To confirm this finding, we replicated the analysis in 213 microsatellite unstable colorectal cancers from two independent populations, 148 microsatellite stable colorectal cancers, and the respective normal samples by PCR and fragment analysis. The repeat showed nearly perfect sensitivity for microsatellite unstable colorectal cancer as it was altered in 212 of the 213 microsatellite unstable (99.5%) and none of the microsatellite stable colorectal tumors. This repeat thus represents the first potential single marker for detecting microsatellite instability.
PubMed ID
25930744 View in PubMed
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A 30-year history of MPAN case from Russia.

https://arctichealth.org/en/permalink/ahliterature290990
Source
Clin Neurol Neurosurg. 2017 Aug; 159:111-113
Publication Type
Case Reports
Journal Article
Date
Aug-2017
Author
M Selikhova
E Fedotova
S Wiethoff
L V Schottlaender
S Klyushnikov
S N Illarioshkin
H Houlden
Author Affiliation
Reta Lila Weston Institute of Neurological Studies, UCL,1 Wakefield Street, London WC1N 1PJ, United Kingdom. Electronic address: m.selikhova@talk21.com.
Source
Clin Neurol Neurosurg. 2017 Aug; 159:111-113
Date
Aug-2017
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Adult
Female
Humans
Intellectual Disability - diagnostic imaging - genetics
Mitochondrial Membrane Transport Proteins - genetics
Mitochondrial Proteins - genetics
Muscle Spasticity - diagnostic imaging - genetics
Optic Atrophy - diagnostic imaging - genetics
Russia
Spinocerebellar Ataxias - diagnostic imaging - genetics
Time Factors
Abstract
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
PubMed ID
28641177 View in PubMed
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450K epigenome-wide scan identifies differential DNA methylation in newborns related to maternal smoking during pregnancy.

https://arctichealth.org/en/permalink/ahliterature122072
Source
Environ Health Perspect. 2012 Oct;120(10):1425-31
Publication Type
Article
Date
Oct-2012
Author
Bonnie R Joubert
Siri E Håberg
Roy M Nilsen
Xuting Wang
Stein E Vollset
Susan K Murphy
Zhiqing Huang
Cathrine Hoyo
Øivind Midttun
Lea A Cupul-Uicab
Per M Ueland
Michael C Wu
Wenche Nystad
Douglas A Bell
Shyamal D Peddada
Stephanie J London
Author Affiliation
Division of Intramural Research, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina 27709, USA.
Source
Environ Health Perspect. 2012 Oct;120(10):1425-31
Date
Oct-2012
Language
English
Publication Type
Article
Keywords
Adult
Basic Helix-Loop-Helix Transcription Factors - genetics - metabolism
Biological Markers - blood
Chromatography, Liquid
Cohort Studies
Cotinine - blood
Cytochrome P-450 CYP1A1 - genetics - metabolism
DNA Methylation
DNA-Binding Proteins - genetics - metabolism
Epigenesis, Genetic
Female
Fetal Blood
Genome-Wide Association Study
Humans
Infant, Newborn
Male
Maternal Exposure
Norway - epidemiology
Pregnancy
Prenatal Exposure Delayed Effects - chemically induced - epidemiology - genetics
Repressor Proteins - genetics - metabolism
Tandem Mass Spectrometry
Tobacco Smoke Pollution - adverse effects
Transcription Factors - genetics - metabolism
United States - epidemiology
Abstract
Epigenetic modifications, such as DNA methylation, due to in utero exposures may play a critical role in early programming for childhood and adult illness. Maternal smoking is a major risk factor for multiple adverse health outcomes in children, but the underlying mechanisms are unclear.
We investigated epigenome-wide methylation in cord blood of newborns in relation to maternal smoking during pregnancy.
We examined maternal plasma cotinine (an objective biomarker of smoking) measured during pregnancy in relation to DNA methylation at 473,844 CpG sites (CpGs) in 1,062 newborn cord blood samples from the Norwegian Mother and Child Cohort Study (MoBa) using the Infinium HumanMethylation450 BeadChip (450K).
We found differential DNA methylation at epigenome-wide statistical significance (p-value
Notes
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Erratum In: Environ Health Perspect. 2012 Dec;120(12):A455
PubMed ID
22851337 View in PubMed
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The -629C>A polymorphism in the CETP gene does not explain the association of TaqIB polymorphism with risk and age of myocardial infarction in Icelandic men.

https://arctichealth.org/en/permalink/ahliterature53840
Source
Atherosclerosis. 2001 Nov;159(1):187-92
Publication Type
Article
Date
Nov-2001
Author
G. Eiriksdottir
M K Bolla
B. Thorsson
G. Sigurdsson
S E Humphries
V. Gudnason
Author Affiliation
Molecular Genetics Laboratory, Hjartavernd, Icelandic Heart Association, Lagmuli 9, 108, Reykjavik, Iceland. gudny@hjarta.is
Source
Atherosclerosis. 2001 Nov;159(1):187-92
Date
Nov-2001
Language
English
Publication Type
Article
Keywords
Aged
Carrier Proteins - genetics
Gene Frequency
Genotype
Glycoproteins
Homozygote
Humans
Iceland
Linkage Disequilibrium
Lipids - blood
Lipoproteins, HDL Cholesterol - blood
Male
Myocardial Infarction - blood - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Promoter Regions (Genetics) - genetics
Prospective Studies
Research Support, Non-U.S. Gov't
Risk factors
Abstract
The aim of this study was to examine whether the well-established effect of the common TaqIB polymorphism in intron 1 of the gene for cholesterol ester transfer protein (CETP) on high density lipoprotein cholesterol (HDL-C) concentration and increased risk of myocardial infarction (MI), could be explained by the recently identified -629C>A functional polymorphism in the promoter. Non-fatal MI cases (388 male) and a control group of 794 healthy men were recruited from the 30 year long prospective Reykjavik Study. In the healthy men the frequency of the TaqIB B2 allele was 0.47 (95% CI: 0.44-0.50) and there was a strong allelic association with the -629A allele (D=-0.21, P
PubMed ID
11689220 View in PubMed
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The A1 allele of the D2 dopamine receptor gene is associated with high dopamine transporter density in detoxified alcoholics.

https://arctichealth.org/en/permalink/ahliterature46100
Source
Alcohol Alcohol. 2001 May-Jun;36(3):262-5
Publication Type
Article
Author
T P Laine
A. Ahonen
P. Räsänen
T. Pohjalainen
J. Tiihonen
J. Hietala
Author Affiliation
Department of Psychiatry, University of Oulu, FIN-90220 Oulu, Finland.
Source
Alcohol Alcohol. 2001 May-Jun;36(3):262-5
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alcoholism - genetics - metabolism - psychology
Alleles
Carrier Proteins - genetics
DNA - genetics - isolation & purification
Depression - psychology
Dopamine Plasma Membrane Transport Proteins
Female
Genotype
Humans
Male
Membrane Glycoproteins
Membrane Transport Proteins
Middle Aged
Nerve Tissue Proteins
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Receptors, Dopamine D2 - genetics
Research Support, Non-U.S. Gov't
Taq Polymerase
Abstract
The A1 allele of TaqI A restriction fragment length polymorphism (RFLP) in the D2 receptor (DRD2) gene locus has been suggested to be associated with low D2 receptor density in man. Striatal dopamine transporter (DAT) densities were studied with [(123)I]2-beta-carbometoxy-3beta(4-iodophenyl)tropane and single-photon emission tomography in 29 detoxified alcoholics, who were also genotyped for the two alleles of TaqI A RFLP at the DRD2 receptor gene locus. Alcoholics with the A1/A2 genotypes (n = 10) had statistically significantly higher DAT densities than subjects with the A2/A2 genotypes [n = 19; 8.0 +/- 1.2 (mean +/- SD) vs 6.9 +/- 1.1, P = 0.035]. We suggest that the TaqI A RFLP is in linkage disequilibrium with a gene variant modifying DAT density in alcoholics.
PubMed ID
11373265 View in PubMed
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The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

https://arctichealth.org/en/permalink/ahliterature165637
Source
Bone. 2007 Apr;40(4):1006-12
Publication Type
Article
Date
Apr-2007
Author
Anne Saarinen
Ville-Valtteri Välimäki
Matti J Välimäki
Eliisa Löyttyniemi
Kirsi Auro
Piia Uusen
Mairi Kuris
Anna-Elina Lehesjoki
Outi Mäkitie
Author Affiliation
Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Source
Bone. 2007 Apr;40(4):1006-12
Date
Apr-2007
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Bone Density - genetics
Calcifediol - blood
Finland
Fractures, Bone - etiology - genetics
Gene Frequency
Humans
LDL-Receptor Related Proteins - genetics
Low Density Lipoprotein Receptor-Related Protein-5
Male
Military Personnel
Osteoporosis - etiology - genetics
Parathyroid Hormone - blood
Polymorphism, Single Nucleotide
Risk factors
Abstract
Polymorphisms in the gene coding for low-density lipoprotein receptor-related protein 5 (LRP5) contribute to variation in bone mass in the general population. Whether this is due to influence on bone mass acquisition or on bone loss thereafter has not been established.
We studied the association of LRP5 polymorphisms with peak bone mass in young men. The study included 235 Finnish men, aged 18.3 to 20.6 years. Lifestyle factors and fracture history were recorded. Bone mineral content (BMC), density (BMD) and scan area were measured for the lumbar spine and proximal femur by dual energy X-ray absorptiometry (DXA). Blood and urine were collected for determination of bone turnover markers, serum 25-OHD and PTH. Genomic DNA was extracted from peripheral blood for genetic analysis of LRP5. Ten single nucleotide polymorphisms in LRP5 were analyzed and correlated with bone parameters.
Only the A1330V polymorphism of LRP5 significantly associated with bone parameters. In comparison with subjects with the AlaAla genotype (n=215), those with AlaVal genotype (n=20) had lower femoral neck BMC (P=0.029) and BMD (P=0.012), trochanter BMC (P=0.0067) and BMD (P=0.015), and total hip BMC (P=0.0044) and BMD (P=0.0089). Fracture history was similar for the genotypes.
The polymorphic valine variant at position 1330 of LRP5 was significantly associated with reduced BMC and BMD values in healthy young Finnish men. The results provide evidence for the crucial role of LRP5 in peak bone mass acquisition.
PubMed ID
17223614 View in PubMed
Less detail

ABCG2 polymorphism markedly affects the pharmacokinetics of atorvastatin and rosuvastatin.

https://arctichealth.org/en/permalink/ahliterature150732
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Publication Type
Article
Date
Aug-2009
Author
J E Keskitalo
O. Zolk
M F Fromm
K J Kurkinen
P J Neuvonen
M. Niemi
Author Affiliation
Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Date
Aug-2009
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adult
Anticholesteremic Agents - pharmacokinetics
Area Under Curve
Cross-Over Studies
Drug Resistance, Multiple
European Continental Ancestry Group - genetics
Female
Finland
Fluorobenzenes - administration & dosage - blood - pharmacokinetics - urine
Genotype
Heptanoic Acids - administration & dosage - blood - pharmacokinetics - urine
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacokinetics
Linear Models
Male
Neoplasm Proteins - genetics
Polymorphism, Single Nucleotide
Pyrimidines - administration & dosage - blood - pharmacokinetics - urine
Pyrroles - administration & dosage - blood - pharmacokinetics - urine
Reference Values
Sulfonamides - administration & dosage - blood - pharmacokinetics - urine
Abstract
The ABCG2 c.421C>A single-nucleotide polymorphism (SNP) was determined in 660 healthy Finnish volunteers, of whom 32 participated in a pharmacokinetic crossover study involving the administration of 20 mg atorvastatin and rosuvastatin. The frequency of the c.421A variant allele was 9.5% (95% confidence interval 8.1-11.3%). Subjects with the c.421AA genotype (n = 4) had a 72% larger mean area under the plasma atorvastatin concentration-time curve from time 0 to infinity (AUC(0-infinity)) than individuals with the c.421CC genotype had (n = 16; P = 0.049). In participants with the c.421AA genotype, the rosuvastatin AUC(0-infinity) was 100% greater than in those with c.421CA (n = 12) and 144% greater than in those with the c.421CC genotype. Also, those with the c.421AA genotype showed peak plasma rosuvastatin concentrations 108% higher than those in the c.421CA genotype group and 131% higher than those in the c.421CC genotype group (P
PubMed ID
19474787 View in PubMed
Less detail

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.

https://arctichealth.org/en/permalink/ahliterature260948
Source
Epilepsia. 2014 Dec;55(12):2017-27
Publication Type
Article
Date
Dec-2014
Author
Sanne S Kaalund
Morten T Venø
Mads Bak
Rikke S Møller
Henning Laursen
Flemming Madsen
Helle Broholm
Bjørn Quistorff
Peter Uldall
Niels Tommerup
Sakari Kauppinen
Anne Sabers
Kees Fluiter
Lisbeth B Møller
Anne Y Nossent
Asli Silahtaroglu
Jørgen Kjems
Eleonora Aronica
Zeynep Tümer
Source
Epilepsia. 2014 Dec;55(12):2017-27
Date
Dec-2014
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Animals
Cohort Studies
Denmark
Embryo, Mammalian
Epilepsy, Temporal Lobe - complications - metabolism - pathology
Female
Gene Expression Profiling
Gene Expression Regulation - physiology
Glutamate Plasma Membrane Transport Proteins - genetics - metabolism
Hippocampus - metabolism
Humans
Male
MicroRNAs - metabolism
Middle Aged
Nerve Tissue Proteins - metabolism
Netherlands
Pyramidal Cells - metabolism - pathology
Receptors, Metabotropic Glutamate - metabolism
Reproducibility of Results
Sclerosis - etiology - pathology
Sequence Analysis, RNA
Swine
Young Adult
Abstract
Mesial temporal lobe epilepsy (MTLE) is one of the most common types of the intractable epilepsies and is most often associated with hippocampal sclerosis (HS), which is characterized by pronounced loss of hippocampal pyramidal neurons. microRNAs (miRNAs) have been shown to be dysregulated in epilepsy and neurodegenerative diseases, and we hypothesized that miRNAs could be involved in the pathogenesis of MTLE and HS.
miRNA expression was quantified in hippocampal specimens from human patients using miRNA microarray and quantitative real-time polymerase chain reaction RT-PCR, and by RNA-seq on fetal brain specimens from domestic pigs. In situ hybridization was used to show the spatial distribution of miRNAs in the human hippocampus. The potential effect of miRNAs on targets genes was investigated using the dual luciferase reporter gene assay.
miRNA expression profiling showed that 25 miRNAs were up-regulated and 5 were down-regulated in hippocampus biopsies of MTLE/HS patients compared to controls. We showed that miR-204 and miR-218 were significantly down-regulated in MTLE and HS, and both were expressed in neurons in all subfields of normal hippocampus. Moreover, miR-204 and miR-218 showed strong changes in expression during fetal development of the hippocampus in pigs, and we identified four target genes, involved in axonal guidance and synaptic plasticity, ROBO1, GRM1, SLC1A2, and GNAI2, as bona fide targets of miR-218. GRM1 was also shown to be a direct target of miR-204.
miR-204 and miR-218 are developmentally regulated in the hippocampus and may contribute to the molecular mechanisms underlying the pathogenesis of MTLE and HS.
PubMed ID
25410734 View in PubMed
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Absence of association between the INSIG2 gene polymorphism (rs7566605) and obesity in the European Youth Heart Study (EYHS).

https://arctichealth.org/en/permalink/ahliterature95295
Source
Obesity (Silver Spring). 2009 Jul;17(7):1453-7
Publication Type
Article
Date
Jul-2009
Author
Vimaleswaran Karani S
Franks Paul W
Brage Soren
Sardinha Luis B
Andersen Lars B
Wareham Nicholas J
Ekelund Ulf
Loos Ruth J F
Author Affiliation
MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge, UK.
Source
Obesity (Silver Spring). 2009 Jul;17(7):1453-7
Date
Jul-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Cross-Sectional Studies
Denmark
Estonia
Europe
Female
Genetic Predisposition to Disease - genetics
Genotype
Humans
Intracellular Signaling Peptides and Proteins - genetics
Lipids - blood
Male
Membrane Proteins - genetics
Obesity - blood - ethnology - genetics
Polymorphism, Single Nucleotide - genetics
Waist Circumference - genetics
Abstract
The first genome-wide association study for BMI identified a polymorphism, rs7566605, 10 kb upstream of the insulin-induced gene 2 (INSIG2) transcription start site, as the most significantly associated variant in children and adults. Subsequent studies, however, showed inconsistent association of this polymorphism with obesity traits. This polymorphism has been hypothesized to alter INSIG2 expression leading to inhibition of fatty acid and cholesterol synthesis. Hence, we investigated the association of the INSIG2 rs7566605 polymorphism with obesity- and lipid-related traits in Danish and Estonian children (930 boys and 1,073 girls) from the European Youth Heart Study (EYHS), a school-based, cross-sectional study of pre- and early pubertal children. The association between the polymorphism and obesity traits was tested using additive and recessive models adjusted for age, age-group, gender, maturity and country. Interactions were tested by including the interaction terms in the model. Despite having sufficient power (98%) to detect the previously reported effect size for association with BMI, we did not find significant effects of rs7566605 on BMI (additive, P = 0.68; recessive, P = 0.24). Accordingly, the polymorphism was not associated with overweight (P = 0.87) or obesity (P = 0.34). We also did not find association with waist circumference (WC), sum of four skinfolds, or with total cholesterol, triglycerides, low-density lipoprotein, or high-density lipoprotein. There were no gender-specific (P = 0.55), age-group-specific (P = 0.63) or country-specific (P = 0.56) effects. There was also no evidence of interaction between genotype and physical activity (P = 0.95). Despite an adequately powered study, our findings suggest that rs7566605 is not associated with obesity-related traits and lipids in the EYHS.
PubMed ID
19197262 View in PubMed
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2396 records – page 1 of 240.