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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
Cites: Hum Mol Genet. 2012 Jul 1;21(13):3073-8222492999
Cites: Epigenetics. 2011 Nov;6(11):1284-9421937876
Cites: Mol Cell Biol. 2004 Oct;24(20):8803-1215456856
Cites: Genome Biol. 2004;5(10):R8015461798
Cites: Mol Cell Biol. 2005 Dec;25(23):10338-5116287849
Cites: Biochem Pharmacol. 2006 Jul 28;72(3):267-7916488401
Cites: Eur J Epidemiol. 2006;21(8):619-2517031521
Cites: Int J Epidemiol. 2006 Oct;35(5):1146-5016926217
Cites: Nature. 2007 May 24;447(7143):425-3217522676
Cites: Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):13056-6117670942
Cites: Arch Biochem Biophys. 2007 Aug 15;464(2):207-1217481570
Cites: Chem Res Toxicol. 2008 Jan;21(1):102-1618076143
Cites: Pediatr Res. 2008 Jun;63(6):593-818317238
Cites: Cancer Epidemiol Biomarkers Prev. 2008 Sep;17(9):2306-1018768498
Cites: J Clin Invest. 2008 Oct;118(10):3462-918802477
Cites: J Pediatr. 2009 Jan;154(1):17-918990410
Cites: Rapid Commun Mass Spectrom. 2009 May;23(9):1371-919337982
Cites: Genome Res. 2009 Jul;19(7):1165-7419494038
Cites: Am J Respir Crit Care Med. 2009 Sep 1;180(5):462-719498054
Cites: J Cell Physiol. 2010 Feb;222(2):282-519847803
Cites: Virchows Arch. 2010 Jan;456(1):13-2119844740
Cites: Science. 2010 Sep 10;329(5997):1345-820688981
Cites: J Allergy Clin Immunol. 2011 Jan;127(1):262-4, 264.e121094522
Cites: Am J Epidemiol. 2011 Feb 1;173(3):355-921178103
Cites: BMC Public Health. 2011;11(1):4621255390
Cites: Am J Hum Genet. 2011 Apr 8;88(4):450-721457905
Cites: Blood. 2011 Apr 14;117(15):e142-5021343615
Cites: Epigenetics. 2011 Jun;6(6):692-70221593595
Cites: Stem Cells. 2011 Feb;29(2):376-8521732494
Cites: Nat Rev Genet. 2011 Aug;12(8):529-4121747404
Cites: Genomics. 2011 Oct;98(4):288-9521839163
Cites: Semin Immunol. 2011 Oct;23(5):368-7821920773
Cites: J Biol Chem. 2011 Dec 16;286(50):43214-2821984831
Cites: Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):141-5122232023
Cites: Nat Immunol. 2012 Feb;13(2):117-922261961
Cites: Gene. 2012 Feb 15;494(1):36-4322202639
Cites: Environ Health Perspect. 2012 Feb;120(2):296-30222005006
Cites: Environ Health Perspect. 2012 Mar;120(3):355-6022128036
Comment In: Environ Health Perspect. 2012 Oct;120(10):a40223026408
Erratum In: Environ Health Perspect. 2012 Dec;120(12):A455
PubMed ID
22851337 View in PubMed
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A common variant upstream of the PAX6 gene influences islet function in man.

https://arctichealth.org/en/permalink/ahliterature131235
Source
Diabetologia. 2012 Jan;55(1):94-104
Publication Type
Article
Date
Jan-2012
Author
Ahlqvist E
Turrini F
Lang ST
Taneera J
Zhou Y
Almgren P
Hansson O
Isomaa B
Tuomi T
Eriksson K
Eriksson JG
Lyssenko V
Groop L
Author Affiliation
Department of Clinical Sciences, Diabetes and Endocrinology, Lund University, CRC at Skåne University Hospital, 205 02 Malmö, Sweden. Emma.Ahlqvist@med.lu.se
Source
Diabetologia. 2012 Jan;55(1):94-104
Date
Jan-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Cohort Studies
Diabetes Mellitus, Type 2 - genetics - metabolism - physiopathology
Down-Regulation
Eye Proteins - genetics - metabolism
Female
Finland
Genetic Association Studies
Homeodomain Proteins - genetics - metabolism
Humans
Insulin Resistance
Islets of Langerhans - metabolism - physiopathology
Linkage Disequilibrium
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Paired Box Transcription Factors - genetics - metabolism
Polymorphism, Single Nucleotide
Proprotein Convertase 1 - genetics - metabolism
RNA, Messenger - metabolism
Repressor Proteins - genetics - metabolism
Tissue Culture Techniques
Young Adult
Abstract
Impaired glucose tolerance and impaired insulin secretion have been reported in families with PAX6 mutations and it is suggested that they result from defective proinsulin processing due to lack of prohormone convertase 1/3, encoded by PCSK1. We investigated whether a common PAX6 variant would mimic these findings and explored in detail its effect on islet function in man.
A PAX6 candidate single nucleotide polymorphism (rs685428) was associated with fasting insulin levels in the Diabetes Genetics Initiative genome-wide association study. We explored its potential association with glucose tolerance and insulin processing and secretion in three Scandinavian cohorts (N?=?8,897 individuals). In addition, insulin secretion and the expression of PAX6 and transcriptional target genes were studied in human pancreatic islets.
rs685428 G allele carriers had lower islet mRNA expression of PAX6 (p?=?0.01) and PCSK1 (p?=?0.001) than AA homozygotes. The G allele was associated with increased fasting insulin (p (replication)?=?0.02, p (all)?=?0.0008) and HOMA-insulin resistance (p (replication)?=?0.02, p (all)?=?0.001) as well as a lower fasting proinsulin/insulin ratio (p (all)?=?0.008) and lower fasting glucagon (p?=?0.04) and gastric inhibitory peptide (GIP) (p?=?0.05) concentrations. Arginine-stimulated (p?=?0.02) insulin secretion was reduced in vivo, which was further reflected by a reduction of glucose- and potassium-stimulated insulin secretion (p?=?0.002 and p?=?0.04, respectively) in human islets in vitro.
A common variant in PAX6 is associated with reduced PAX6 and PCSK1 expression in human islets and reduced insulin response, as well as decreased glucagon and GIP concentrations and decreased insulin sensitivity. These findings emphasise the central role of PAX6 in the regulation of islet function and glucose metabolism in man.
PubMed ID
21922321 View in PubMed
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Modifying effect of the AR gene trinucleotide repeats and SNPs in the AHR and AHRR genes on the association between persistent organohalogen pollutant exposure and human sperm Y:X ratio.

https://arctichealth.org/en/permalink/ahliterature165504
Source
Mol Hum Reprod. 2007 Apr;13(4):223-9
Publication Type
Article
Date
Apr-2007
Author
T. Tiido
A. Rignell-Hydbom
B A G Jönsson
L. Rylander
A. Giwercman
Y Lundberg Giwercman
Author Affiliation
Department of Clinical Sciences, Molecular Reproductive Medicine Research Unit, Malmö University Hospital, Sweden. tarmo.tiido@med.lu.se
Source
Mol Hum Reprod. 2007 Apr;13(4):223-9
Date
Apr-2007
Language
English
Publication Type
Article
Keywords
Basic Helix-Loop-Helix Transcription Factors
Chromosomes, Human, X - drug effects
Chromosomes, Human, Y - drug effects
Cohort Studies
Dichlorodiphenyl Dichloroethylene - toxicity
Environmental Exposure
Environmental Pollutants - blood - toxicity
Genotype
Humans
Hydrocarbons, Chlorinated - blood - toxicity
In Situ Hybridization, Fluorescence
Male
Polychlorinated Biphenyls - toxicity
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Receptors, Androgen - genetics - metabolism
Receptors, Aryl Hydrocarbon - genetics - metabolism
Repressor Proteins - genetics - metabolism
Spermatogenesis - drug effects
Spermatozoa - drug effects - metabolism
Sweden
Trinucleotide Repeats
Abstract
Persistent organohalogen pollutants (POPs) have been suggested to be involved in changing the proportion of ejaculated Y-bearing sperm. The androgen receptor (AR), aryl hydrocarbon receptor (AHR) and aryl hydrocarbon receptor repressor (AHRR) may modulate the effect of POPs with regard to previously observed sperm Y:X ratio changes. The objective of this study was to investigate whether sperm Y:X ratio changes in subjects exposed to 2,2'4,4'5,5'-hexachlorobiphenyl (CB-153) and dichlorodiphenyl dichloroethene (p,p'-DDE) were modified by polymorphisms in the AR, AHR and AHRR genes. Semen for analysis of Y- and X-bearing sperm by two-colour fluorescence in situ hybridization and blood for leukocyte DNA genotyping and analysis of CB-153 and p,p'-DDE concentrations were obtained from 195 Swedish fishermen. The polymorphic CAG and GGN repeats in the AR and the R554K and P185A single-nucleotide polymorphisms in the AHR and AHRR genes, respectively, were determined by direct sequencing and allele-specific PCR. The effect of p,p'-DDE was modified by CAG or GGN repeat category in relation to the proportion of Y-bearing sperm (P = 0.005 and 0.02 for CAG and GGN, respectively). Moreover, p,p'-DDE, but not CB-153, levels were associated with Y-sperm proportion in men with CAG or = 22 (P = 0.73). This association was even more pronounced in subjects carrying a short CAG repeat in combination with an AHRR G-allele. The association in regard to p,p'-DDE was found for GGN = 23 but not for the GGN 23 subgroups (P = 0.01, 0.44 and 0.99, respectively). In conclusion The endocrine-disrupting action of POPs, in relation to the observed changes in sperm Y:X ratio, may be modulated by the genes involved in sex steroid and dioxin-mediated pathways.
PubMed ID
17244640 View in PubMed
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Tetracycline resistance of Neisseria gonorrhoeae in Russia, 2015-2017.

https://arctichealth.org/en/permalink/ahliterature300951
Source
Infect Genet Evol. 2018 09; 63:236-242
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
09-2018
Author
Boris Shaskolskiy
Ekaterina Dementieva
Arvo Leinsoo
Natalia Petrova
Alexander Chestkov
Alexey Kubanov
Dmitry Deryabin
Dmitry Gryadunov
Author Affiliation
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia. Electronic address: b.shaskolskiy@biochip.ru.
Source
Infect Genet Evol. 2018 09; 63:236-242
Date
09-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Anti-Bacterial Agents - pharmacology
Bacterial Proteins - genetics - metabolism
Gene Expression
Gonorrhea - drug therapy - epidemiology - microbiology
Humans
Microbial Sensitivity Tests
Mutation
Neisseria gonorrhoeae - classification - drug effects - genetics - isolation & purification
Phylogeny
Plasmids - chemistry - metabolism
Porins - genetics - metabolism
Repressor Proteins - genetics - metabolism
Ribosomal Proteins - genetics - metabolism
Russia - epidemiology
Tetracycline - pharmacology
Tetracycline Resistance - genetics
Abstract
The objective of this study was to estimate the tetracycline resistance level in the modern population of Neisseria gonorrhoeae in the Russian Federation, where this drug was removed from the treatment regimen for gonococcal infections in 2003. A total of 401 isolates collected between 2015 and 2017 were analyzed for genetic markers (chromosomal porB, rpsJ and mtrR gene mutations and the plasmid-located tetM gene) involved in tetracycline resistance. Antibiotic susceptibility testing revealed that 19% of the strains were tetracycline resistant (MIC?>?1?mg/L) and that 10% of the strains had intermediate susceptibility (0.5??8?mg/L). One N. gonorrhoeae isolate was found to carry a defective tetM gene with an AG deletion at position 1239-1240, ? new stop codon was introduced that caused a defect in TetM protein synthesis and decrease in the tetracycline resistance. Phylogenetic trees constructed using N. gonorrhoeae NG-MAST and tetM loci were compared. Complex relationship was observed between the N. gonorrhoeae sequence type and the tetM plasmid type. Partial recovery of N. gonorrhoeae tetracycline susceptibility was observed relative to the proportion of isolates with resistance detected ten years ago (75%). However, the current levels of tetracycline resistance still preclude the renewed use of these drugs for gonococcal infection therapy.
PubMed ID
29883770 View in PubMed
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