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2, 3-diphosphoglycerate mutase: its demonstration by electrophoresis and the detection of a genetic variant.

https://arctichealth.org/en/permalink/ahliterature503
Source
Biochemical Genetics. 5:481-486.
Publication Type
Article
Date
1971
Author
Chen, S.-H.
Anderson, J.E.
Giblett, E.R.
Author Affiliation
King County Central Blood Bank (Seattle)
Source
Biochemical Genetics. 5:481-486.
Date
1971
Language
English
Geographic Location
Canada
Publication Type
Article
Physical Holding
Alaska Medical Library
Keywords
2,3-diphosphoglycerate mutase
Genetic variations
Plasma electrophoresis
Notes
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 1326.
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6-PGD polymorphism: a fast 'Elcho' variant found in Finland.

https://arctichealth.org/en/permalink/ahliterature246786
Source
Hum Genet. 1979 Oct 1;51(2):225-6
Publication Type
Article
Date
Oct-1-1979

164Ile allele in the beta2-Adrenergic receptor gene is associated with risk of elevated blood pressure in women. The Copenhagen City Heart Study.

https://arctichealth.org/en/permalink/ahliterature173671
Source
Pharmacogenet Genomics. 2005 Sep;15(9):633-45
Publication Type
Article
Date
Sep-2005
Author
Amar A Sethi
Anne Tybjaerg-Hansen
Gorm B Jensen
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev University Hospital, Herlev, Denmark.
Source
Pharmacogenet Genomics. 2005 Sep;15(9):633-45
Date
Sep-2005
Language
English
Publication Type
Article
Keywords
Alleles
Arginine - chemistry
Blood pressure
Body mass index
Denmark
Female
Gene Expression Regulation
Gene Frequency
Genetic Variation
Genotype
Glutamic Acid - chemistry
Glutamine - chemistry
Glycine - chemistry
Haplotypes
Heart rate
Heterozygote
Humans
Hypertension - genetics
Isoleucine - chemistry
Linkage Disequilibrium
Male
Receptors, Adrenergic, beta-2 - genetics
Risk
Risk factors
Sequence Analysis, DNA
Sex Factors
Time Factors
Abstract
Since beta2-adrenergic receptors are important regulators of blood pressure, genetic variation in this receptor could explain risk of elevated blood pressure in selected individuals. We tested the hypothesis that Gly16Arg, Gln27Glu, and Thr164Ile in the beta2-adrenergic receptor gene associated with elevated blood pressure.
We genotyped 9185 individuals from the adult Danish general population.
Allele frequencies of 16Arg, 27Glu, and 164Ile were 0.38, 0.44, and 0.01, respectively. Among women never treated with antihypertensive medication those heterozygous for Thr164Ile versus non-carriers had increased diastolic blood pressure (P=0.02). Women heterozygous for Thr164Ile versus non-carriers had an odds ratio for elevated blood pressure of 1.93 (95% CI: 1.30-2.86). Finally, women double heterozygous for Thr164Ile and Gln27Glu or Gly16Arg versus non-carriers at all 3 loci had an odds ratio for elevated blood pressure of 2.49 (1.28-4.85) or 3.19 (1.46-6.97). In men, blood pressure was not influenced by this genetic variation.
In women Thr164Ile heterozygosity is associated with increased diastolic blood pressure, and represent a risk factor for elevated blood pressure in women in the general population. This was most pronounced in those women also heterozygous for Gln27Glu or Gly16Arg.
PubMed ID
16041242 View in PubMed
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The A20210 allele of the prothrombin gene is frequently associated with the factor V Arg 506 to Gln mutation but not with protein S deficiency in thrombophilic families.

https://arctichealth.org/en/permalink/ahliterature206068
Source
Blood. 1998 Mar 15;91(6):2210-1
Publication Type
Article
Date
Mar-15-1998

ABCB4 sequence variations in young adults with cholesterol gallstone disease.

https://arctichealth.org/en/permalink/ahliterature91197
Source
Liver Int. 2009 May;29(5):743-7
Publication Type
Article
Date
May-2009
Author
Nakken Karl Esten
Labori Knut Jørgen
Rødningen Olaug K
Nakken Sigve
Berge Knut E
Eiklid Kristin
Raeder Morten G
Author Affiliation
Institute for Experimental Medical Research, Ullevaal University Hospital, Oslo, Norway. esten.nakken@medisin.uio.no
Source
Liver Int. 2009 May;29(5):743-7
Date
May-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Cholesterol - chemistry
Female
Gallstones - genetics
Genetic Variation
Humans
Male
Mutation - genetics
Norway
P-Glycoproteins - genetics
Abstract
BACKGROUND AND AIMS: Mutations in the gene encoding the ABCB4 [adenosine triphosphate (ATP)-binding cassette, sub-family B (MDR/TAP), member 4] transporter lower phosphatidylcholine output into bile and contribute to cholesterol gallstone formation by decreasing the solubility of cholesterol in bile. Mutations in ABCB4 have been identified in patients with low phospholipid-associated cholelithiasis. The aim of the present study was to determine the types and frequencies of ABCB4 mutations in cholecystectomized patients aged T/p.R1046X). These two mutations are considered detrimental to ABCB4 protein function. In addition, six missense mutations were found in the ABCB4 gene, and three of these were only present in patients. CONCLUSION: In our study,
PubMed ID
19018976 View in PubMed
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The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease.

https://arctichealth.org/en/permalink/ahliterature104661
Source
J Am Coll Cardiol. 2014 May 27;63(20):2121-8
Publication Type
Article
Date
May-27-2014
Author
Stefan Stender
Ruth Frikke-Schmidt
Børge G Nordestgaard
Anne Tybjaerg-Hansen
Author Affiliation
Copenhagen University Hospitals and Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark.
Source
J Am Coll Cardiol. 2014 May 27;63(20):2121-8
Date
May-27-2014
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - blood - genetics
Aged
Denmark - epidemiology
Female
Gallstones - blood - epidemiology - genetics
Genetic Variation
Genotype
Humans
Lipoproteins - blood - genetics
Male
Middle Aged
Myocardial Infarction - blood - epidemiology - genetics
Prevalence
Abstract
The study sought to test the hypothesis that genetic variation in ABCG5/8, the transporter responsible for intestinal and hepatobiliary cholesterol efflux, may simultaneously influence plasma and biliary cholesterol levels, and hence risk of myocardial infarction (MI) and gallstone disease in opposite directions.
High plasma levels of low-density lipoprotein (LDL) cholesterol are a causal risk factor for MI, whereas high levels of biliary cholesterol promote gallstone formation.
A total of 60,239 subjects from Copenhagen were included, including 5,647 with MI and 3,174 with symptomatic gallstone disease. Subjects were genotyped for 6 common, nonsynonymous and functional variants in ABCG5/8, and a combined weighted genotype score was calculated.
Combined, weighted genotype scores were associated with stepwise decreases in LDL cholesterol of up to 5.9% (0.20 mmol/l) for individuals with a score =8.0 (prevalence = 11%) versus
Notes
Comment In: J Am Coll Cardiol. 2014 May 27;63(20):2129-3024657684
PubMed ID
24657701 View in PubMed
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Absence of association between genetic variation of the beta 3-adrenergic receptor and metabolic phenotypes in Oji-Cree.

https://arctichealth.org/en/permalink/ahliterature205667
Source
Diabetes Care. 1998 May;21(5):851-4
Publication Type
Article
Date
May-1998
Author
R A Hegele
S B Harris
A J Hanley
H. Azouz
P W Connelly
B. Zinman
Author Affiliation
Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada. robert.hegele@rri.on.ca
Source
Diabetes Care. 1998 May;21(5):851-4
Date
May-1998
Language
English
Publication Type
Article
Keywords
Adipose Tissue - metabolism
Adult
Alleles
American Native Continental Ancestry Group - genetics
Analysis of Variance
Blood Glucose - metabolism
Body constitution
Body mass index
Diabetes Mellitus, Type 2 - blood - epidemiology - genetics
Female
Gene Frequency
Genetic Variation
Genotype
Humans
Insulin - blood
Male
Middle Aged
Ontario - epidemiology
Phenotype
Receptors, Adrenergic, beta - genetics
Abstract
To assess the association between the common missense variant, Y64R, in the gene encoding the beta 3-adrenergic receptor, ADRB3, and intermediate phenotypes related to obesity and NIDDM in Canadian Oji-Cree.
We determined genotypes of the ADRB3 Y64R polymorphism in 508 clinically and biochemically well-characterized adult Oji-Cree, of whom 115 had NIDDM. We tested for associations with multivariate analysis of variance.
We found the ADRB3 R64 allele frequency to be 0.40 in this population, which is the highest yet observed in a human population. Furthermore, 15% of subjects were R64/R64 homozygotes, compared with a virtual absence of homozygotes in European study samples. However, we found no statistically significant associations of the ADRB3 Y64R genotype either with the presence of NIDDM, with indexes of obesity, or with intermediate quantitative biochemical traits related to NIDDM.
Despite the very high frequency of the ADRB3 R64 allele in this sample of aboriginal people, it was not associated with any metabolic phenotype. This suggests that the ADRB3 R64 allele is probably not a major determinant of obesity or NIDDM in these aboriginal Canadians.
PubMed ID
9589254 View in PubMed
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Acoustic detection and satellite-tracking leads to discovery of rare concentration of endangered North Pacific right whales.

https://arctichealth.org/en/permalink/ahliterature166227
Source
Biol Lett. 2006 Sep 22;2(3):417-9
Publication Type
Article
Date
Sep-22-2006
Author
Paul Wade
Mads Peter Heide-Jørgensen
Kim Shelden
Jay Barlow
James Carretta
John Durban
Rick LeDuc
Lisa Munger
Shannon Rankin
Allan Sauter
Charles Stinchcomb
Author Affiliation
National Oceanic and Atmospheric Administration, National Marine Fisheries Service, Alaska Fisheries Science Center, Seattle WA 98115, USA.
Source
Biol Lett. 2006 Sep 22;2(3):417-9
Date
Sep-22-2006
Language
English
Publication Type
Article
Keywords
Acoustics
Animals
Biopsy
Female
Genetic Variation
Humans
Male
Pacific Ocean
Spatial Behavior - physiology
Species Specificity
Time Factors
Vocalization, Animal - physiology
Whales - genetics
Abstract
The North Pacific right whale, Eubalaena japonica, is one of the most endangered species of whale in the world. On 10 August 2004, two right whales were located in the Bering Sea using headings to right whale calls provided by directional sonobuoys. A satellite-monitored radio tag attached to one of these whales functioned for 40 days. Over the 40-day period, this whale moved throughout a large part of the southeast Bering Sea shelf, including areas of the outer-shelf where right whales have not been seen in decades. In September, multiple right whales were acoustically located and subsequently sighted by another survey vessel approaching a near-real-time position from the tag. An analysis of photographs confirmed at least 17 individual whales (not including the tagged whales). Genetic analysis of biopsy samples identified 17 individuals: 10 males and 7 females. The discovery of seven females was significant, as only one female had been identified in the past. Genetics also confirmed the presence of at least two calves. Although the future of this population is highly uncertain, the discovery of additional females and calves gives some hope that this most critically endangered of all whale populations may still possess the capacity to recover.
Notes
Cites: Mol Ecol. 1999 Oct;8(10):1763-510583845
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PubMed ID
17148419 View in PubMed
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Active and passive surveillance and phylogenetic analysis of Borrelia burgdorferi elucidate the process of Lyme disease risk emergence in Canada.

https://arctichealth.org/en/permalink/ahliterature143987
Source
Environ Health Perspect. 2010 Jul;118(7):909-14
Publication Type
Article
Date
Jul-2010
Author
Nicholas H Ogden
Catherine Bouchard
Klaus Kurtenbach
Gabriele Margos
L Robbin Lindsay
Louise Trudel
Soulyvane Nguon
François Milord
Author Affiliation
Centre for Food-Borne, Environmental and Zoonotic Infectious Diseases, Public Health Agency of Canada, Saint-Hyacinthe, Québec, Canada. nicholas_ogden@phac-aspc.gc.ca
Source
Environ Health Perspect. 2010 Jul;118(7):909-14
Date
Jul-2010
Language
English
Publication Type
Article
Keywords
Animals
Borrelia burgdorferi - classification - genetics
Cluster analysis
Communicable Diseases, Emerging - epidemiology - microbiology
Demography
Genetic Variation
Humans
Ixodes - microbiology
Logistic Models
Lyme Disease - epidemiology - microbiology
Phylogeny
Population Surveillance - methods
Quebec - epidemiology
Rodentia - parasitology
Sequence Analysis, DNA
Tick Infestations - epidemiology - veterinary
Abstract
Northward expansion of the tick Ixodes scapularis is driving Lyme disease (LD) emergence in Canada. Information on mechanisms involved is needed to enhance surveillance and identify where LD risk is emerging.
We used passive and active surveillance and phylogeographic analysis of Borrelia burgdorferi to investigate LD risk emergence in Quebec.
In active surveillance, we collected ticks from the environment and from captured rodents. B. burgdorferi transmission was detected by serological analysis of rodents and by polymerase chain reaction assays of ticks. Spatiotemporal trends in passive surveillance data assisted interpretation of active surveillance. Multilocus sequence typing (MLST) of B. burgdorferi in ticks identified likely source locations of B. burgdorferi.
In active surveillance, we found I. scapularis at 55% of sites, and we were more likely to find them at sites with a warmer climate. B. burgdorferi was identified at 13 I. scapularis-positive sites, but infection prevalence in ticks and animal hosts was low. Low infection prevalence in ticks submitted in passive surveillance after 2004-from the tick-positive regions identified in active surveillance-coincided with an exponential increase in tick submissions during this time. MLST analysis suggested recent introduction of B. burgdorferi from the northeastern United States.
These data are consistent with I. scapularis ticks dispersed from the United States by migratory birds, founding populations where the climate is warmest, and then establishment of B. burgdorferi from the United States several years after I. scapularis have established. These observations provide vital information for public health to minimize the impact of LD in Canada.
Notes
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Comment In: Environ Health Perspect. 2010 Jul;118(7):A30520601318
PubMed ID
20421192 View in PubMed
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1247 records – page 1 of 125.