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56 records – page 1 of 6.

5-alpha-reductase 2 polymorphisms as risk factors in prostate cancer.

https://arctichealth.org/en/permalink/ahliterature19112
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Publication Type
Article
Date
Jun-2002
Author
Söderström T
Wadelius M
Andersson S-O
Johansson J-E
Johansson S
Granath F
Rane A
Author Affiliation
Department of Medical Sciences, Clinical Pharmacology, University Hospital, S-751 85 Uppsala, Sweden. torbjorn.soderstrom@lmk.ck.lul.se
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Date
Jun-2002
Language
English
Publication Type
Article
Keywords
Age Factors
Aged
Alleles
Case-Control Studies
Cell Differentiation
DNA - blood - metabolism
DNA Primers - chemistry
European Continental Ancestry Group
Genotype
Heterozygote
Humans
Male
Middle Aged
Neoplasm Staging
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Prostate-Specific Antigen - metabolism
Prostatic Neoplasms - enzymology - etiology - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Testosterone 5-alpha-Reductase - genetics
Abstract
Prostate cancer is a significant cause of death in Western countries and is under the strong influence of androgens. The steroid 5alpha-reductase 2 catalyzes the metabolism of testosterone into the more potent androgen dihydrotestosterone in the prostate gland. The enzyme is a target in pharmacological treatment of benign prostatic hyperplasia using specific inhibitors such as finasteride. Makridakis et al. have characterized the V89L and A49T polymorphisms in recombinant expression systems. The L allelic variant has a lower Vmax/Km ratio than the V variant. In the A49T polymorphism, the T variant has an increased Vmax/Km ratio. We performed a population-based case-control study of the impact of the SRD5A2 V89L and A49T polymorphisms on the risk of prostate cancer. We also studied the relation between the genotypes and age at diagnosis, tumor, node, metastasis stage, differentiation grade, prostate specific antigen and heredity. The study included 175 prostate cancer patients and 159 healthy controls that were matched for age. There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5.67 (95% CI 1.44-22.30) when adjusted for age, differentiation grade, T-stage and prostate specific antigen. Heterozygous prostate cancer cases that carried the SRD5A2 A49T AT genotype were significantly younger than cases that carried the AA genotype, (mean age 66 years vs 71, P = 0.038). The SRD5A2 V89L and A49T polymorphisms were, however, not associated with altered prostate cancer risk. Further studies of the V89L polymorphism may lead to better understanding of the etiology of prostate cancer metastases.
PubMed ID
12042668 View in PubMed
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Abscess disease, caseous lymphadenitis, and pulmonary adenomatosis in imported sheep.

https://arctichealth.org/en/permalink/ahliterature20491
Source
J Vet Med B Infect Dis Vet Public Health. 2000 Feb;47(1):55-62
Publication Type
Article
Date
Feb-2000
Author
K. Møller
J S Agerholm
P. Ahrens
N E Jensen
T K Nielsen
Author Affiliation
Department of Microbiology, Danish Veterinary Laboratory, Copenhagen, Denmark.
Source
J Vet Med B Infect Dis Vet Public Health. 2000 Feb;47(1):55-62
Date
Feb-2000
Language
English
Publication Type
Article
Keywords
Abscess - epidemiology - microbiology - pathology - veterinary
Adenomatosis, Pulmonary - epidemiology - microbiology - pathology - veterinary
Animals
DNA Primers - chemistry
DNA, Bacterial - chemistry - isolation & purification
DNA, Ribosomal - chemistry - isolation & purification
Denmark - epidemiology
Disease Outbreaks - veterinary
Lymph Nodes - microbiology - pathology
Lymphadenitis - epidemiology - microbiology - pathology - veterinary
Polymerase Chain Reaction - veterinary
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Sheep
Sheep Diseases - epidemiology - microbiology - pathology
Staphylococcal Infections - epidemiology - microbiology - pathology - veterinary
Staphylococcus aureus - genetics - isolation & purification
Abstract
The occurrence of abscess disease, caseous lymphadenitis, and pulmonary adenomatosis in sheep in Denmark is reported for the first time. Subcutaneous abscesses were observed in imported 4- to 5-month-old lambs of the Lacaune breed 10 days after arrival in Denmark. Abscesses were mostly located in the head, neck and shoulder regions close to the regional lymph nodes. Bacteriological examinations revealed growth of Staphylococcus aureus ssp. anaerobius in all animals with subcutaneously located abscesses containing a viscous white-yellow odourless mass. In addition, Corynebacterium pseudotuberculosis was isolated from abscesses in one animal and lesions consistent with pulmonary adenomatosis were found in four animals.
PubMed ID
10780173 View in PubMed
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Analysis of a rape case by direct sequencing of the human immunodeficiency virus type 1 pol and gag genes.

https://arctichealth.org/en/permalink/ahliterature7958
Source
J Virol. 1994 Sep;68(9):5918-24
Publication Type
Article
Date
Sep-1994
Author
J. Albert
J. Wahlberg
T. Leitner
D. Escanilla
M. Uhlén
Author Affiliation
Department of Clinical Virology, Swedish Institute for Infectious Disease Control, Karolinska Institute, Stockholm.
Source
J Virol. 1994 Sep;68(9):5918-24
Date
Sep-1994
Language
English
Publication Type
Article
Keywords
Base Sequence
Comparative Study
DNA Primers - chemistry
Drug Resistance, Microbial
Female
Genes, gag
Genes, pol
HIV-1 - genetics
HIV-1 Reverse Transcriptase
Humans
Male
Molecular Sequence Data
Phylogeny
RNA-Directed DNA Polymerase - chemistry
Rape
Research Support, Non-U.S. Gov't
Sequence Alignment
Sequence Homology, Amino Acid
Zidovudine - pharmacology
Abstract
Transmission of human immunodeficiency virus type 1 (HIV-1) from a male accused of rape and deliberate transmission of HIV-1 was investigated by sequencing of the HIV-1 pol and gag genes from virus obtained from the male and from the female victim. Parts of the reverse transcriptase and p17gag genes were amplified and directly sequenced from uncultured peripheral blood mononuclear cells. The sequences were compared with sequences from 21 unrelated HIV-1-infected controls from the same geographic area (Stockholm, Sweden). Bootstrap analysis of phylogenetic trees demonstrated that the sequences from the female were significantly more closely related to the sequences from the male than to sequences from the controls. Furthermore, we found that the male and female shared two distinct genetic variants of HIV-1. In p17gag the major variant had an unusual, out-of-frame deletion of 3 nucleotides which the minor variant lacked. These results indicated that the male had transmitted more than one infectious unit to the female. From this study we concluded that it was highly likely that the HIV-1 strains carried by the male and female were closely epidemiologically linked.
PubMed ID
7520096 View in PubMed
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Angiotensin converting enzyme gene insertion/deletion polymorphism, angiotensinogen gene polymorphisms, family history of hypertension, and childhood blood pressure.

https://arctichealth.org/en/permalink/ahliterature33126
Source
Am J Hypertens. 1999 Sep;12(9 Pt 1):858-66
Publication Type
Article
Date
Sep-1999
Author
L. Taittonen
M. Uhari
K. Kontula
K. Kainulainen
H. Miettinen
J. Turtinen
M. Nuutinen
Author Affiliation
Department of Pediatrics, University of Oulu, Finland.
Source
Am J Hypertens. 1999 Sep;12(9 Pt 1):858-66
Date
Sep-1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Angiotensinogen - genetics
Blood Pressure - genetics
Child
Child, Preschool
Comparative Study
DNA - analysis
DNA Primers - chemistry
DNA Transposable Elements - genetics
Female
Follow-Up Studies
Gene Deletion
Genetic Code
Genetic markers
Genetic Predisposition to Disease
Genotype
Humans
Hypertension - blood - genetics
Male
Minisatellite Repeats
Peptidyl-Dipeptidase A - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Retrospective Studies
Abstract
Earlier epidemiologic studies have yielded inconsistent results on the extent and timing of the blood pressure (BP) increase in offspring of hypertensive parents. We hypothesized that a familial influence on the BP of the offspring exists from birth on, but becomes significant only later in childhood. We studied the influence of familial occurrence of hypertension on the BP of 3596 children aged 6 to 18 years during a 6-year follow-up. In addition, we examined the possible associations of BP variations with polymorphisms of two candidate genes for hypertension, ie, those coding for the angiotensin converting enzyme (ACE) and those coding for angiotensinogen. A positive family history of hypertension was reflected as the occurrence of higher systolic BP values from the age of 9 years and upward among the females and from the age of 12 years and upward among the males. The mean differences in BP varied from 3.2 to 5.8 mm Hg (systolic) and 2.1 to 5.9 mm Hg (diastolic) between the female offspring of normotensive and hypertensive parents and grandparents. The systolic BP values were significantly higher among females with a hypertensive history in two generations in comparison with females from normotensive families. Among the male offspring of hypertensive and normotensive families, the BP differences were inconsistent. The deletion/deletion males had higher systolic BP values than those with other ACE genotypes. In contrast, variation at the angiotensinogen gene locus was not significantly associated with BP. We conclude that parental history of hypertension is a risk factor for high blood pressure among the offspring from the ages of 9 to 12 years and upward, and hypertension within two generations may enhance this effect. Although the common genetic variation of ACE may influence blood pressure in male children and adolescents, our data do not suggest a role for the common variation of the angiotensinogen gene as a BP regulator during childhood.
PubMed ID
10509542 View in PubMed
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Association of FXIII Val34Leu with decreased risk of myocardial infarction in Finnish males.

https://arctichealth.org/en/permalink/ahliterature203068
Source
Atherosclerosis. 1999 Feb;142(2):295-300
Publication Type
Article
Date
Feb-1999
Author
U. Wartiovaara
M. Perola
H. Mikkola
K. Tötterman
V. Savolainen
A. Penttilä
P J Grant
M J Tikkanen
E. Vartiainen
P J Karhunen
L. Peltonen
A. Palotie
Author Affiliation
Department of Clinical Chemistry and Biomedicine, Helsinki University Central Hospital, Finland.
Source
Atherosclerosis. 1999 Feb;142(2):295-300
Date
Feb-1999
Language
English
Publication Type
Article
Keywords
Alleles
DNA - analysis
DNA Primers - chemistry
Factor XIII - genetics
Fibrinolysis - genetics
Finland - epidemiology
Genetic markers
Genotype
Humans
Incidence
Male
Middle Aged
Myocardial Infarction - epidemiology - genetics
Plasminogen Activator Inhibitor 1 - genetics
Polymorphism, Genetic
Prevalence
Risk factors
Abstract
Factor XIII is a transglutaminase that crosslinks fibrin in the last steps of the coagulation process. A few polymorphic sites have been identified in this gene, one of them being a point mutation (FXIII Val34Leu), leading to an amino acid change of valine to leucine. Recently, in British patients, FXIII 34Leu allele was suggested to be associated with a decreased incidence of myocardial infarction (MI). PAI-1 4G/4G genotype seemed to lessen the beneficial effect of FXIII 34Leu allele. The aim of our study was to further investigate the possible protective role of the FXIII 34Leu allele against MI and its suggested interaction with the PAI-1 4G/5G polymorphism. We carried out genotype analyses for FXIII Val34Leu using solid-phase minisequencing in two independent Finnish study groups. In our study, the FXIII 34Leu allele was associated with a lower risk of MI (P = 0.009), however, the PAI-1 4G allele showed no interaction with this polymorphism. To establish the population frequency of the FXIII 34Leu allele and to study the possible variations in Finland four DNA pools from different geographical areas of Finland were genotyped. No significant differences in the allele frequencies were observed (21-28%) except in the Eastern Kainuu area (13%), an area with an increased risk of mortality from coronary artery disease (CAD), supporting the results presented above. The association of FXIII 34Leu variant with a lower incidence of myocardial infarction suggests a new role for FXIII in a polygenic thrombotic disease.
PubMed ID
10030380 View in PubMed
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The beta cell glucokinase promoter variant is an unlikely risk factor for diabetes mellitus. Diabetes Incidence Study in Sweden (DISS).

https://arctichealth.org/en/permalink/ahliterature48155
Source
Diabetologia. 1997 Aug;40(8):959-62
Publication Type
Article
Date
Aug-1997
Author
K. Lotfi
G. Sund
R. Lowe
J. Graham
M. Landin-Olsson
I. Kockum
S. Deeb
A. Lernmark
Author Affiliation
Department of Medicine, University of Washington, Seattle 98195, USA.
Source
Diabetologia. 1997 Aug;40(8):959-62
Date
Aug-1997
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Base Sequence
Comparative Study
DNA Primers - chemistry
Diabetes Mellitus - classification - enzymology - genetics
Diabetes Mellitus, Type 1 - enzymology - genetics
Diabetes Mellitus, Type 2 - enzymology - genetics
Gene Frequency - genetics
Glucokinase - genetics
Humans
Islets of Langerhans - chemistry - enzymology
Logistic Models
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Promoter Regions (Genetics) - genetics
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Risk factors
Sex Characteristics
Sweden
Abstract
Glucokinase plays an important role in the regulation of insulin secretion and is therefore an attractive candidate gene for both insulin dependent (IDDM) and non-insulin-dependent (NIDDM) diabetes mellitus. A single G-A nucleotide polymorphism at the -30 position of the beta-cell specific promoter region of the glucokinase gene was previously associated with reduced beta-cell function. In the present study we analysed 268 consecutive newly diagnosed Swedish patients classified with either IDDM (n = 205), NIDDM (n = 31) or unclassifiable (n = 32) diabetes between the ages of 15 and 35 years along with a group of 158 age- and sex-matched control subjects. The beta-cell promoter region was amplified by the polymerase chain reaction and the G-A variant identified by single strand conformational polymorphism. There was no significant difference in allele frequencies of G and A between any of the subject groups and likewise, no significant difference in the frequencies of the G/G, G/A, or A/A genotypes. Eight subjects were homozygous for the less common A allele, five had IDDM and three were control subjects. Our results suggest that the -30 beta-cell glucokinase promoter variant is not associated with IDDM.
PubMed ID
9267992 View in PubMed
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Characterisation of streptomycin resistance determinants in Danish isolates of Salmonella Typhimurium.

https://arctichealth.org/en/permalink/ahliterature10433
Source
Vet Microbiol. 2000 Jul 3;75(1):73-82
Publication Type
Article
Date
Jul-3-2000
Author
L. Madsen
F M Aarestrup
J E Olsen
Author Affiliation
Department of Veterinary Microbiology, The Royal Veterinary and Agricultural University, Stigboejlen 4, DK 1870 C, Frederiksberg, Denmark.
Source
Vet Microbiol. 2000 Jul 3;75(1):73-82
Date
Jul-3-2000
Language
English
Publication Type
Article
Keywords
Animals
Blotting, Southern - veterinary
Cattle
Cattle Diseases - drug therapy - microbiology
Colony Count, Microbial
Conjugation, Genetic - genetics
DNA Primers - chemistry
DNA, Bacterial - chemistry - isolation & purification
Denmark
Drug Resistance, Microbial - genetics
Electrophoresis, Agar Gel - veterinary
Humans
Nucleotidyltransferases - chemistry - genetics
Phosphotransferases (Alcohol Group Acceptor) - chemistry - genetics
Polymerase Chain Reaction - veterinary
Research Support, Non-U.S. Gov't
Salmonella Infections, Animal - drug therapy
Salmonella typhimurium - chemistry - drug effects - genetics
Sequence Analysis, DNA
Streptomycin - pharmacology
Swine
Swine Diseases - drug therapy - microbiology
Variation (Genetics) - genetics
Abstract
Fifty six Danish streptomycin (Sm) resistant isolates of Salmonella enterica serotype Typhimurium from pigs (n=34), calves (n=3) and humans (n=19) were characterised with respect to co-resistances (14 drugs), transferability of Sm-resistance by conjugation, genetic determinants encoding Sm-resistance and diversity with respect to localisation of genes in the genome and DNA-sequences. Forty-six strains carried resistance(s) other than Sm-resistance. Nineteen different co-resistance patterns were observed and tetracycline was the most commonly observed resistance in these patterns. In 22 of the strains, Sm-resistance was transferred by conjugation. Eleven strains contained the gene aadA only, six strains contained aadA+strA+strB, and 35 strains contained strA+strB. Partial sequences of aadA were obtained from four strains. Three strains showed identical sequences to a published aadA sequence from the transposon Tn7, and in one strain the sequence showed one synonymous substitution compared to this sequence. Partial sequences were obtained of strA and strB in seven strains. The sequence of strB was identical to the published sequence of the plasmid RSF1010 in all strains. All seven sequences of strA were identical and differed from the sequence of strA in RSF1010 by two non-synonymous substitutions.
PubMed ID
10865153 View in PubMed
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Chemokine receptor CCR2b 64I polymorphism and its relation to CD4 T-cell counts and disease progression in a Danish cohort of HIV-infected individuals. Copenhagen AIDS cohort.

https://arctichealth.org/en/permalink/ahliterature7667
Source
J Acquir Immune Defic Syndr Hum Retrovirol. 1998 Jun 1;18(2):110-6
Publication Type
Article
Date
Jun-1-1998
Author
J. Eugen-Olsen
A K Iversen
T L Benfield
U. Koppelhus
P. Garred
Author Affiliation
Department of Infectious Diseases, Copenhagen University Hospitals, Hvidovre, Denmark. jeo@biobase.dk
Source
J Acquir Immune Defic Syndr Hum Retrovirol. 1998 Jun 1;18(2):110-6
Date
Jun-1-1998
Language
English
Publication Type
Article
Keywords
Alleles
CD4 Lymphocyte Count
CD4-Positive T-Lymphocytes - immunology
Cohort Studies
DNA Primers - chemistry
Denmark
Disease Progression
Gene Frequency
HIV Infections - genetics - immunology - mortality
HIV-1
Humans
Male
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Receptors, CCR5 - genetics
Receptors, CXCR4 - genetics
Receptors, Chemokine
Receptors, Cytokine - genetics
Research Support, Non-U.S. Gov't
Survival Rate
Abstract
We have investigated the role of the recently described mutation in CCR2b named 64I in relation to HIV resistance, CD4 T-cell counts, and disease progression in Danish individuals by polymerase chain reaction (PCR)-based methods as well as sequenced full-length CXCR4 and CCR5 genes from HIV-infected long-term nonprogressors for possible mutations. In total, 215 Danish individuals were analyzed for 64I allele frequency; disease progression was followed in 105 HIV-1-positive homosexual Danish men from their first known positive HIV-1 test result and up to 11 years. In 87 individuals, the CD4 T-cell count was monitored closely. We found no significant difference in 64I allele frequency between HIV-1-seropositive persons (0.08), high-risk HIV-1-seronegative persons (0.11), and blood donors (0.06). No significant difference was observed in annual CD4 T-cell decline, CD4 T-cell counts at the time of AIDS, in AIDS-free survival as well as survival with AIDS, between 64I allele carriers and wild-type individuals. Among 9 long-term nonprogressors, 2 carried the 64I allele, while none of 9 fast progressors carried the 64I allele. However, this was not significantly different (p=.47). Long-term nonprogression could not be explained by CXCR4 polymorphism or other polymorphisms in the CCR5 gene than the CCR5delta32 allele. Furthermore, we were not able to detect any significant independent effect of the 64I allele on development to AIDS, overall survival, and annual CD4 T-cell decline in this cohort.
PubMed ID
9637575 View in PubMed
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Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog.

https://arctichealth.org/en/permalink/ahliterature5368
Source
Mol Vis. 2002 Mar 22;8:79-84
Publication Type
Article
Date
Mar-22-2002
Author
Novrouz B Akhmedov
Victoria J Baldwin
Barbara Zangerl
James W Kijas
Linda Hunter
Katayoun D Minoofar
Cathryn Mellersh
Elaine A Ostrander
Gregory M Acland
Debora B Farber
Gustavo D Aguirre
Author Affiliation
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA..
Source
Mol Vis. 2002 Mar 22;8:79-84
Date
Mar-22-2002
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Animals
Cattle
Chromosomes - genetics
Cloning, Molecular
Comparative Study
DNA Primers - chemistry
DNA, Complementary - analysis
Dogs - genetics
Exons
Gene Library
Homeodomain Proteins - genetics - metabolism
Humans
Introns
Linkage (Genetics)
Mice
Molecular Sequence Data
Open Reading Frames - genetics
Photoreceptors, Vertebrate - metabolism
Radiation Hybrid Mapping
Rats
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Retinal Degeneration - genetics - metabolism
Sequence Homology, Amino Acid
Trans-Activators - genetics - metabolism
Abstract
PURPOSE: The cone-rod homeobox protein (CRX) is a member of the homeodomain-containing protein family expressed in the retinal photoreceptors and pinealocytes; it is involved in the regulation of the coordinate expression of multiple photoreceptor specific genes during retinal development. Mutations in the CRX gene are causally associated with retinal degeneration phenotypes in man. To clone the full length cDNA, characterize the genomic organization of canine CRX, map the gene in a radiation hybrid (RH) panel, and evaluate it as a candidate for canine inherited retinal degenerations. METHODS: cDNA representational difference analysis (RDA) was done using normal and cone degeneration (cd) affected retinas. Exonic primers designed from consensus sequences of mammalian CRX cDNA were used to amplify and sequence dog genomic DNA. Canine specific primers were used for RH mapping of CRX on the RH3000 cell line. Linkage, sequencing and/or mapping the disease locus was used to evaluate CRX as a disease associated candidate gene. RESULTS: The gene comprises three exons and two introns and codes for a transcript with a 900 bp open reading frame (ORF). In agreement with human map data, RH mapping placed canine CRX on the proximal end of CFA1, in a region of synteny with HSA19q13-q13.3. Based on RH mapping, meiotic linkage or sequencing data, we excluded CRX as the cause of canine early onset photoreceptor degenerations affecting Alaskan malamutes (cd), collies (rod-cone dysplasia 2, rcd2), American Staffordshire terriers, and Tibetan terriers. CONCLUSIONS: Canine CRX has a high level of nucleotide and amino acid sequence identity with orthologous sequences reported for other species. The gene is excluded from causal association with 4 early onset photoreceptor diseases affecting cones (cd) or rods and cones (rcd2, PRA in American Staffordshire terriers, and Tibetan terriers).
PubMed ID
11951083 View in PubMed
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56 records – page 1 of 6.