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A < 1.7 cM interval is responsible for Dmo1 obesity phenotypes in OLETF rats.

https://arctichealth.org/en/permalink/ahliterature47295
Source
Clin Exp Pharmacol Physiol. 2004 Jan-Feb;31(1-2):110-2
Publication Type
Article
Author
Takeshi K Watanabe
Shiro Okuno
Yuki Yamasaki
Toshihide Ono
Keiko Oga
Ayako Mizoguchi-Miyakita
Hideo Miyao
Mikio Suzuki
Hiroshi Momota
Yoshihiro Goto
Hiroichi Shinomiya
Haretsugu Hishigaki
Isamu Hayashi
Toshihiro Asai
Shigeyuki Wakitani
Toshihisa Takagi
Yusuke Nakamura
Akira Tanigami
Author Affiliation
Otsuka GEN Research Institute, Otsuka Pharmaceutical Co. Ltd., 463-10 Kagasuno, Kawauchi-cho, Tokushima 771-0192, Japan. tkw_watanabe@research.otsuka.co.jp
Source
Clin Exp Pharmacol Physiol. 2004 Jan-Feb;31(1-2):110-2
Language
English
Publication Type
Article
Keywords
Animals
Animals, Congenic
Body Weight - genetics
Crosses, Genetic
Diabetes Mellitus - genetics
Female
Hyperglycemia - genetics
Hyperlipidemia - blood - genetics
Male
Obesity
Phenotype
Rats
Rats, Inbred BN
Rats, Inbred OLETF
Research Support, Non-U.S. Gov't
Abstract
1. Dmo1 (Diabetes Mellitus OLETF type I) is a major quantitative trait locus for dyslipidaemia, obesity and diabetes phenotypes of male Otsuka Long Evans Tokushima Fatty (OLETF) rats. 2. Our congenic lines, produced by transferring Dmo1 chromosomal segments from the non-diabetic Brown Norway (BN) rat into the OLETF strain, have confirmed the strong, wide-range therapeutic effects of Dmo1 on dyslipidaemia, obesity and diabetes in the fourth (BC4) and fifth (BC5) generations of congenic animals. Analysis of a relatively small number of BC5 rats (n = 71) suggested that the critical Dmo1 interval lies within a
PubMed ID
14756694 View in PubMed
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The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

https://arctichealth.org/en/permalink/ahliterature206213
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Publication Type
Article
Date
Mar-1998
Author
P. Scott
D. Ouimet
Y. Proulx
M L Trouvé
G. Guay
B. Gagnon
L. Valiquette
A. Bonnardeaux
Author Affiliation
Service de Néphrologie, Hôpital Maisonneuve-Rosemont, Montreal, Quebec, Canada.
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Date
Mar-1998
Language
English
Publication Type
Article
Keywords
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics - metabolism
Adult
Calcium - urine
Canada
European Continental Ancestry Group - genetics
Family Health
Female
France - ethnology
Genetic Linkage
Genetic Markers - genetics
Humans
Kidney Calculi - enzymology - genetics
Male
Middle Aged
Nuclear Family
Pedigree
Phenotype
Vitamin D - blood
Abstract
Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
PubMed ID
9513904 View in PubMed
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The -1C to T polymorphism in the annexin A5 gene is not associated with the risk of acute myocardial infarction or sudden cardiac death in middle-aged Finnish males.

https://arctichealth.org/en/permalink/ahliterature53135
Source
Scand J Clin Lab Invest. 2005;65(2):133-40
Publication Type
Article
Date
2005
Author
K S Kaikkonen
S. Kakko
M L Kortelainen
J M Tapanainen
M J Savolainen
Y. Antero Kesäniemi
H V Huikuri
E R Savolainen
Author Affiliation
Division of Cardiology, Department of Internal Medicine, University of Oulu, Finland.
Source
Scand J Clin Lab Invest. 2005;65(2):133-40
Date
2005
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adult
Aged
Annexin A5 - genetics
Death, Sudden, Cardiac - epidemiology - etiology
Finland - epidemiology
Genetic markers
Genetic Predisposition to Disease
Genetic Screening
Humans
Male
Middle Aged
Myocardial Infarction - epidemiology - genetics
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Risk factors
Abstract
OBJECTIVE: A common polymorphism (-1C to T) in the translation initiation sequence of annexin A5 (ANV) gene has recently been associated with a decreased risk of acute myocardial infarction (AMI). The aim of the present study was to analyze the association between the ANV genepolymorphism and the risk of AMI and ischemic sudden cardiac death (SCD) in middle-aged Finnish males. MATERIAL AND METHODS: A case-control study involving three distinct groups of subjects was carried out: (1) victims of SCD (n=98), (2) survivors of AMI (n=212), and (3) randomly selected control subjects without any history of coronary heart disease (n=243). The ANV polymorphism was genotyped in each study group. RESULTS: Among the control group of healthy Finnish males the prevalence rates of the CC, CT, and TT genotypes were 83.1%, 15.2%, and 1.6%, respectively. Among the survivors of AMI, the prevalence rates of CC, CT, and TT were 79.7%, 20.3%, and 0%, respectively, and among the victims of SCD 83.7%, 16.3%, and 0%, respectively. No significant differences in the genotype or allele distributions were observed between the study groups. CONCLUSION: The -1C to T polymorphism in the ANV gene is not associated with the risk of AMI or SCD in middle-aged Finnish males.
PubMed ID
16025836 View in PubMed
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A 1-Year Quantitative Survey of Noro-, Adeno-, Human Boca-, and Hepatitis E Viruses in Raw and Secondarily Treated Sewage from Two Plants in Norway.

https://arctichealth.org/en/permalink/ahliterature272273
Source
Food Environ Virol. 2015 Sep;7(3):213-23
Publication Type
Article
Date
Sep-2015
Author
M. Myrmel
H. Lange
E. Rimstad
Source
Food Environ Virol. 2015 Sep;7(3):213-23
Date
Sep-2015
Language
English
Publication Type
Article
Keywords
Adenoviridae - classification - genetics - isolation & purification
Environmental monitoring
Genotype
Hepatitis E virus - classification - genetics - isolation & purification
Human bocavirus - classification - genetics - isolation & purification
Humans
Molecular Sequence Data
Norovirus - classification - genetics - isolation & purification
Norway
Phylogeny
Seasons
Sewage - virology
Water Pollution
Water Purification - instrumentation
Abstract
A study of enteric viruses in raw and treated sewage from two secondary treatment plants, which received sewage from Oslo city (plant A) and small municipalities in Hedmark county in Norway (plant B), showed high levels of noro-, adeno-, and bocavirus throughout the year. A seasonal variation was observed for adeno- and GII norovirus with higher levels during winter and bocavirus that had more positive samples during winter. The virus concentrations in raw sewage were comparable in the two plants, with medians (log10 genome copies per liter) of 6.1, 6.3, 6.0, and 4.5 for noro GI, noro GII, adeno-, and bocavirus, respectively. The level of hepatitis E virus was not determined as it was below the limit of quantification. The mean log10 virus reduction was 0.55 (plant A) and 1.44 (plant B) with the highest reduction found in the plant with longer hydraulic retention time. The adenoviruses were dominantly serotype 41, while serotype 12 appeared sporadically. Of the 102 raw and treated sewage samples that were tested, eight were positive for hepatitis E virus of which four were from treated sewage. Two of the four obtained gene sequences from hepatitis E virus originated from the rural sewage samples and showed high similarity with a genotype 3 strain of hepatitis E virus detected in local piglets. Two other hepatitis E virus sequences obtained from urban sewage samples showed high similarities with genotype 3 strains isolated from urban sewage in Spain and a human genotype 1 isolate from India. The study gives information on the levels of noroviruses in raw and treated sewage, which is valuable to risk assessment, information indicating that some infections with hepatitis E viruses in Norway have a regional origin and that human bocavirus 2 and 3 are prevalent in the Norwegian population.
PubMed ID
26003323 View in PubMed
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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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2,8-dihydroxyadeninuria: are there no cases in Scandinavia?

https://arctichealth.org/en/permalink/ahliterature175743
Source
Scand J Urol Nephrol. 2005;39(1):82-6
Publication Type
Article
Date
2005
Author
Margret Arnadottir
Thröstur Laxdal
Bergljot Halldorsdottir
Author Affiliation
Department of Internal Medicine, Landspitali University Hospital Hringbraut, Reykjavik, Iceland. margarn@landspitali.is
Source
Scand J Urol Nephrol. 2005;39(1):82-6
Date
2005
Language
English
Publication Type
Article
Keywords
Adenine - analogs & derivatives - metabolism - urine
Adenine Phosphoribosyltransferase - deficiency - genetics
Heterozygote
Homozygote
Humans
Mutation
Renal Insufficiency - etiology
Scandinavia - epidemiology
Urinary Calculi - etiology - urine
Abstract
Homozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there may be minimal consequences, there may be infiltration of the tubulointerstitial tissue with acute or chronic damage or there may be stone formation in the urinary tract. Effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis. Treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. Urinary 2,8-dihydroxyadenine crystals are easily recognized under a microscope. The diagnosis of 2,8-dihydroxyadeninuria can be confirmed by estimation of adenine phosphoribosyltransferase activity in erythrocyte lysates. More than 300 cases of 2,8-dihydroxyadeninuria have been diagnosed worldwide, most of them in Japan, France and Iceland. One case has been reported in Finland but there have been no reports from the Scandinavian peninsula or from Denmark. The relevant mutations may be very rare in these countries but underdiagnosis is also possible.
PubMed ID
15764278 View in PubMed
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ß2-adrenergic receptor polymorphisms, asthma and COPD: two large population-based studies.

https://arctichealth.org/en/permalink/ahliterature129736
Source
Eur Respir J. 2012 Mar;39(3):558-66
Publication Type
Article
Date
Mar-2012
Author
M. Thomsen
B G Nordestgaard
A A Sethi
A. Tybjærg-Hansen
M. Dahl
Author Affiliation
Dept of Clinical Biochemistry, Herlev Hospital, Herlev, Denmark.
Source
Eur Respir J. 2012 Mar;39(3):558-66
Date
Mar-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Asthma - epidemiology - genetics
Denmark - epidemiology
Female
Gene Frequency
Humans
Incidence
Lung - physiopathology
Male
Middle Aged
Polymorphism, Genetic
Prevalence
Pulmonary Disease, Chronic Obstructive - epidemiology - genetics
Receptors, Adrenergic, beta-2 - genetics
Young Adult
Abstract
The ß(2)-adrenergic receptor (ADRB2) is an important regulator of airway smooth muscle tone. We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg and Gln27Glu) are associated with reduced lung function, asthma or chronic obstructive pulmonary disease (COPD). We first genotyped 8,971 individuals from the Copenhagen City Heart Study for all three polymorphisms. To validate our findings, we genotyped an additional 53,777 individuals from the Copenhagen General Population Study for the Thr164Ile polymorphism. We identified 60,910 Thr164Ile noncarriers, 1,822 heterozygotes and 16 homozygotes. In the Copenhagen City Heart Study, the Thr164Ile genotype was associated with reduced forced expiratory volume in 1 s (FEV(1)) % predicted (trend p = 0.01) and FEV(1)/forced vital capacity (FVC) (p = 0.001): Thr164Ile heterozygotes had 3% and 2% reduced FEV(1) % pred and FEV(1)/FVC, respectively, compared with noncarriers. The odds ratio for COPD in Thr164Ile heterozygotes was 1.46 (95% CI 1.05-2.02). In the Copenhagen General Population Study, the Thr164 genotype associated with reduced FEV(1) % pred (p = 0.04) and FEV(1)/FVC (p
PubMed ID
22075484 View in PubMed
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ß2 -adrenergic receptor Thr164IIe polymorphism, blood pressure and ischaemic heart disease in 66?750 individuals.

https://arctichealth.org/en/permalink/ahliterature131722
Source
J Intern Med. 2012 Mar;271(3):305-14
Publication Type
Article
Date
Mar-2012
Author
M. Thomsen
M. Dahl
A. Tybjaerg-Hansen
B G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Source
J Intern Med. 2012 Mar;271(3):305-14
Date
Mar-2012
Language
English
Publication Type
Article
Keywords
Aged
Blood Pressure - genetics
Cross-Sectional Studies
Denmark
Female
Genetic Predisposition to Disease - genetics
Genotype
Humans
Hypertension - genetics
Male
Middle Aged
Muscle, Skeletal
Myocardial Ischemia - genetics
Myocytes, Smooth Muscle
Polymorphism, Single Nucleotide
Prospective Studies
Questionnaires
Receptors, Adrenergic, beta-2 - genetics
Sex Factors
Abstract
The ß(2) -adrenergic receptor (ADRB2) is located on smooth muscle cells and is an important regulator of smooth muscle tone. The Thr164Ile polymorphism (rs1800888) in the ADRB2 gene is rare but has profound functional consequences on receptor function and could cause lifelong elevated smooth muscle tone. We tested the hypothesis that Thr164Ile is associated with increased blood pressure, increased frequency of hypertension and increased risk of cardiovascular disease (CVD).
A total of 66 750 individuals from two large Danish general population studies were genotyped, and 1943 Thr164Ile heterozygotes and 16 homozygotes were identified.
Thr164Ile genotype was associated with increased systolic and diastolic blood pressure in women (trend: P = 0.04 and 0.02): systolic and diastolic blood pressure increased by 5% and 2%, respectively, in female homozygotes compared with female noncarriers. All female Thr164Ile homozygotes had hypertension compared with 58% of female heterozygotes and 54% of female noncarriers (chi-square: P = 0.001). Female Thr164Ile homozygotes and heterozygotes had odds ratios for ischaemic heart disease (IHD) of 2.93 (0.56-15.5) and 1.28 (1.03-1.61), respectively, compared with female noncarriers (trend: P = 0.007). These differences were not observed in men. Furthermore, Gly16Arg (rs1042713) and Gln27Glu (rs1042714) in the ADRB2 gene were not associated with blood pressure, hypertension or CVD either in the population overall or in women and men separately.
ADRB2 Thr164Ile is associated with increased blood pressure, increased frequency of hypertension and increased risk of IHD amongst women in the general population. These findings, particularly for homozygotes, are novel.
PubMed ID
21883537 View in PubMed
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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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2B or not to be--the 45-year saga of the Montreal Platelet Syndrome.

https://arctichealth.org/en/permalink/ahliterature140851
Source
Thromb Haemost. 2010 Nov;104(5):903-10
Publication Type
Article
Date
Nov-2010
Author
Man-Chiu Poon
Margaret L Rand
Shannon C Jackson
Author Affiliation
Division of Hematology and Hematologic Malignancies, Department of Medicine, University of Calgary, Calgary, Alberta, Canada. mcpoon@ucalgary.ca
Source
Thromb Haemost. 2010 Nov;104(5):903-10
Date
Nov-2010
Language
English
Publication Type
Article
Keywords
Blood Coagulation - genetics
Blood Coagulation Tests - history
Blood Platelet Disorders - blood - genetics - history
Blood Platelets - metabolism - pathology
Canada
Genetic Predisposition to Disease
History, 20th Century
Humans
Mutation
Pedigree
Phenotype
Platelet Function Tests - history
Syndrome
von Willebrand Disease, Type 2 - blood - genetics - history
von Willebrand Factor - genetics - history
Abstract
Over 45 years ago, Montreal Platelet Syndrome was first described as a rare inherited platelet disorder characterised by macrothrombocytopenia with spontaneous platelet clumping, abnormal platelet shape change upon stimulation and a defect in platelet calpain. This syndrome has now been reclassified as type 2B von Willebrand disease with the V1316M VWF mutation in the only kindred ever reported. We herein revisit the historical platelet characteristics originally described in Montreal Platelet Syndrome in light of the new diagnosis. This paper will review the 45-year saga of Montreal Platelet Syndrome, a story that highlights the value of revisiting a rare diagnosis to look for a more common explanation.
PubMed ID
20838735 View in PubMed
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22016 records – page 1 of 2202.