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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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Cholesteryl ester transfer protein gene polymorphisms are associated with carotid atherosclerosis in men.

https://arctichealth.org/en/permalink/ahliterature10550
Source
Eur J Clin Invest. 2000 Jan;30(1):18-25
Publication Type
Article
Date
Jan-2000
Author
S. Kakko
M. Tamminen
M. Päivänsalo
H. Kauma
A O Rantala
M. Lilja
A. Reunanen
Y A Kesäniemi
M J Savolainen
Author Affiliation
University of Oulu, Oulu, Finland. sakari.kakko@oulu.fi
Source
Eur J Clin Invest. 2000 Jan;30(1):18-25
Date
Jan-2000
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Carotid Artery Diseases - genetics
Carrier Proteins - genetics
Female
Genotype
Glycoproteins
Humans
Linkage Disequilibrium
Lipoproteins, HDL Cholesterol - blood
Male
Middle Aged
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Tunica Intima - pathology
Abstract
BACKGROUND: The cholesteryl ester transfer protein (CETP) is involved in the reverse cholesterol transport and is therefore a candidate gene for atherosclerosis. DESIGN: The prevalences of the I405V and the R451Q polymorphisms were studied in a population sample of 515 men and women. Genotypes were determined by PCR and carotid atherosclerosis by ultrasonography as the mean intima-media thickness (IMT) of the carotid arteries. RESULTS: The Q451 allele was associated with significantly lower intima media thickness in men (P = 0.001). The Q451 allele was, in our earlier study, associated with high plasma CETP activity in men. The VV405 genotype was associated with lower plasma CETP activity compared with the II405 genotype (P
PubMed ID
10619997 View in PubMed
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A polymorphic site in the 3' untranslated region of the cholesteryl ester transfer protein (CETP) gene is associated with low CETP activity.

https://arctichealth.org/en/permalink/ahliterature54626
Source
Atherosclerosis. 1996 Aug 2;124(2):237-47
Publication Type
Article
Date
Aug-2-1996
Author
M. Tamminen
S. Kakko
Y A Kesäniemi
M J Savolainen
Author Affiliation
Department of Internal Medicine, University of Oulu, Finland.
Source
Atherosclerosis. 1996 Aug 2;124(2):237-47
Date
Aug-2-1996
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Analysis of Variance
Carrier Proteins - blood - genetics
Cholesterol - blood
Comparative Study
Coronary Disease - blood - genetics
DNA - analysis
Electrophoresis, Polyacrylamide Gel
Exons
Female
Genotype
Glycoproteins
Humans
Lipoproteins - blood
Male
Middle Aged
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Random Allocation
Research Support, Non-U.S. Gov't
Abstract
The exon 16 of the cholesteryl ester transfer protein (CETP) gene was screened for possible mutations in patients with low plasma high-density lipoprotein cholesterol (HDL-C) levels and established coronary heart disease. 115 men who had undergone coronary bypass surgery were compared with a random population sample of 515 subjects. A single G to A substitution at base pair 1696 was found in the 3' untranslated region of the CETP gene. Among the patients with low HDL-C, the plasma CETP activity was 29% lower (P = 0.002) in the subjects homozygous for the mutation than in those with other genotypes. The same effect was observed in the random population sample (P = 0.02). The mutation did not affect the plasma lipid or lipoprotein values, although the mean HDL-C tended to be slightly higher and the ratio of cholesterol content in the apo B-containing lipoproteins to HDL-C slightly lower in the homozygotes compared with the other genotypes. In conclusion, we describe a prevalent mutation at the CETP gene locus associated with low plasma CETP activity. Our results support previous findings suggesting that the genes in chromosome 16 may be important in the regulation of reverse cholesterol transport and in protection against coronary heart disease.
PubMed ID
8830936 View in PubMed
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Polymorphisms of genes affecting thrombosis and risk of myocardial infarction.

https://arctichealth.org/en/permalink/ahliterature53627
Source
Eur J Clin Invest. 2002 Sep;32(9):643-8
Publication Type
Article
Date
Sep-2002
Author
S. Kakko
T. Elo
J M Tapanainen
H V Huikuri
M J Savolainen
Author Affiliation
Department of Internal Medicine, University of Oulu, PO Box 5000, FIN-90014, Oulu, Finland. sakari.kakko@oulu.fi
Source
Eur J Clin Invest. 2002 Sep;32(9):643-8
Date
Sep-2002
Language
English
Publication Type
Article
Keywords
Blood Coagulation Factors - genetics
Case-Control Studies
Coronary Thrombosis - genetics
Factor VII - genetics
Factor XIIIa - genetics
Female
Gene Frequency
Genotype
Humans
Integrin alpha2 - genetics
Logistic Models
Male
Middle Aged
Myocardial Infarction - genetics
Odds Ratio
Polymorphism, Genetic
Prospective Studies
Research Support, Non-U.S. Gov't
Risk
Smoking
Abstract
BACKGROUND: As thrombosis is an essential factor in the pathogenesis of acute myocardial infarction (AMI), the genes of proteins affecting haemostasis are good candidate genes for AMI. DESIGN: Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagulation factor XIII (FXIII) gene (V34L) and the glycoprotein Ia (Gp1a) gene (C807T) with the occurrence of AMI were studied in 142 AMI survivors and 142 age- and sex-matched control subjects. RESULTS: Among those who smoked, the L34 allele of the amino acid FXIII polymorphism was less common in the AMI patients (16%) than in the controls (27%) (P = 0.06), suggesting a possible interaction of AMI risk between the FXIII genotype and smoking status. No differences in the allele or genotype frequencies of the studied polymorphisms were seen between the whole study groups. Logistic regression analysis showed the carriers of the L34 allele of the FXIII amino acid polymorphism to have a significantly (P = 0.03) lower AMI risk compared with those homozygous for the V34 allele (odds ratio = 0.54, 95% confidence interval 0.31-0.93). CONCLUSION: The L34 allele of the amino acid polymorphism of the FXIII gene is associated with a decreased risk of AMI, and this protecting association seems to be more pronounced in smokers.
Notes
Comment In: Eur J Clin Invest. 2002 Sep;32(9):637-912486860
PubMed ID
12486862 View in PubMed
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R451Q mutation in the cholesteryl ester transfer protein (CETP) gene is associated with high plasma CETP activity.

https://arctichealth.org/en/permalink/ahliterature10890
Source
Atherosclerosis. 1998 Feb;136(2):233-40
Publication Type
Article
Date
Feb-1998
Author
S. Kakko
M. Tamminen
Y A Kesäniemi
M J Savolainen
Author Affiliation
Department of Internal Medicine and Biocenter Oulu, University of Oulu, Finland.
Source
Atherosclerosis. 1998 Feb;136(2):233-40
Date
Feb-1998
Language
English
Publication Type
Article
Keywords
Adult
Alcohol Drinking
Alleles
Base Sequence
Carrier Proteins - blood - genetics
Cholesterol - blood
Coronary Disease - blood
Female
Gene Frequency
Genotype
Glycoproteins
Heterozygote
Humans
Lipoproteins, HDL Cholesterol - blood
Male
Middle Aged
Point Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
Research Support, Non-U.S. Gov't
Abstract
Cholesteryl ester transfer protein (CETP), as a candidate gene for dyslipoproteinemia and coronary heart disease, was studied in 105 men with low plasma concentrations of high density lipoprotein cholesterol (HDL-C) and established coronary heart disease as well as in 515 randomly selected men and women. A one-nucleotide substitution (G to A) in exon 15, which changes arginine (451) to glutamine in CETP protein, was detected by PCR-SSCP and direct sequencing and screened in the population sample by a simple PCR-based restriction assay. In the random population sample the allele frequency of the R451Q mutation was 1.9%. Men heterozygous for the R451Q mutation (n = 7) had 27% higher CETP activity than age-, body mass index-, smoking- and alcohol consumption-matched controls with normal genotype (n = 21; P = 0.003). Women heterozygous for the R451Q mutation (n = 7) had 16% lower total cholesterol compared to matched controls (n = 21; P = 0.07), but no such difference was detected in men. In the random population sample the correlation between plasma total cholesterol level and CETP activity was 0.19 (P = 0.044), both in men and women. When women with total cholesterol over 5.2 mmol/l were excluded from analysis, heterozygotes (n = 4) had plasma CETP activity of 113 nmol/h/ml plasma, whereas those of normal genotype (n = 12) had 103 nmol/h/ml plasma, but this difference was not statistically significant. Women heterozygous for the R451Q mutation and consuming less than 10 g alcohol a week had 23% lower HDL-C compared to women with the normal genotype (P = 0.032). In conclusion, we describe a mutation in the CETP gene associated with high plasma CETP activity in men and with low total cholesterol in women. Further studies are needed to evaluate the effect of mutation on the risk of coronary heart disease.
PubMed ID
9543093 View in PubMed
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Two functional variants of the superoxide dismutase genes in Finnish families with asthma.

https://arctichealth.org/en/permalink/ahliterature15201
Source
Thorax. 2004 Feb;59(2):116-9
Publication Type
Article
Date
Feb-2004
Author
V L Kinnula
S. Lehtonen
P. Koistinen
S. Kakko
M. Savolainen
J. Kere
V. Ollikainen
T. Laitinen
Author Affiliation
Department of Internal Medicine, University of Oulu and Oulu University Hospital, Finland. vuokko.kinnula@helsinki.fi
Source
Thorax. 2004 Feb;59(2):116-9
Date
Feb-2004
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Asthma - enzymology - genetics
Child
Child, Preschool
Female
Finland
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Infant
Male
Middle Aged
Mutation, Missense - genetics
Pedigree
Polymorphism, Genetic - genetics
Research Support, Non-U.S. Gov't
Superoxide Dismutase - genetics
Abstract
BACKGROUND: Functional polymorphisms in the genes encoding superoxide dismutases (SOD)-that is, superoxide scavenging antioxidant enzymes-may play an important role in the development of inflammatory airway diseases such as asthma. METHODS: The allele frequencies of two missense polymorphisms of SOD genes (Ala16Val in MnSOD (SOD2) and Arg213Gly in ECSOD (SOD3)) were investigated in Finnish patients with asthma and compared with family based controls. Both variants have been shown to be functionally interesting in the lung. The polymorphism at the exon-intron 3 boundary of a third SOD, CuZnSOD (SOD1), was also included in the analysis. RESULTS: None of the SOD genetic variants studied appeared to be major genetic regulators in the development of asthma. We could exclude all models of inheritance that increased the risk of asthma more than 1.2 fold for MnSOD*Val (frequency of allele 0.74 in the population) and more than 6.6 fold for ECSOD*Gly213 (frequency of allele 0.03 in the population) compared with non-carriers. For the intronic polymorphism in CuZnSOD, a relative risk of more than 3.3 (frequency of allele 0.10 in the population) could be excluded. CONCLUSIONS: It is highly unlikely that the functionally important genetic variants Ala16Val and Arg213Gly of SODs play a major role in the genetic susceptibility of asthma.
PubMed ID
14760150 View in PubMed
Less detail

Up-regulation of thioredoxin and thioredoxin reductase in human malignant pleural mesothelioma.

https://arctichealth.org/en/permalink/ahliterature19871
Source
Int J Cancer. 2001 May 20;95(3):198-204
Publication Type
Article
Date
May-20-2001
Author
K. Kahlos
Y. Soini
M. Säily
P. Koistinen
S. Kakko
P. Pääkkö
A. Holmgren
V L Kinnula
Author Affiliation
Department of Internal Medicine, University of Oulu, Kajaanintie 50, FIN-90220, Oulu, Finland.
Source
Int J Cancer. 2001 May 20;95(3):198-204
Date
May-20-2001
Language
English
Publication Type
Article
Keywords
Adult
Aged
Female
Humans
Immunohistochemistry
Male
Mesothelioma - enzymology - pathology
Middle Aged
Pleura - enzymology
Pleural Neoplasms - enzymology - pathology
Research Support, Non-U.S. Gov't
Thioredoxin - metabolism
Thioredoxin Reductase (NADPH) - metabolism
Tumor Cells, Cultured
Up-Regulation
Abstract
Thioredoxin (Trx) with a redoxactive dithiol together with NADPH and thioredoxin reductase (TrxR) is a major disulfide reductase regulating cellular redox state and cell proliferation and possibly contributing to the drug resistance of malignant cells. We assessed the Trx system in malignant pleural mesothelioma cell lines, in nonmalignant pleural mesothelium and in biopsies of malignant pleural mesothelioma. The mRNA and immunoreactive proteins of Trx and cytosolic and mitochondrial TrxR were positive in all four human mesothelioma cell lines investigated. Six cases of nonmalignant, histologically healthy pleural mesothelium showed no Trx or TrxR immunoreactivity, whereas immunohistochemistry on 26 biopsies of human malignant pleural mesothelioma showed positive Trx in all cases and positive TrxR in 23 (88%) of the cases. Moderate or strong immunoreactivity for Trx or TrxR was detected in 85% (22 cases) and 61% (14 cases) of the mesothelioma cases, respectively. Both Trx and TrxR staining patterns were mainly diffuse and cytoplasmic, but in 39% of the mesothelioma cases prominent nuclear staining could also be detected. Although staining for Trx and TrxR was seen in tumor cells, no significant association could be demonstrated between Trx or TrxR expression and tumor cell proliferation or apoptosis in the biopsies of mesothelioma. There was no significant association between the intensity of Trx or TrxR immunoreactivity and patient survival, which may possibly be related to moderate or intense Trx and TrxR reactivity in most of the cases. Although the Trx system may have an important role in the drug resistance of malignant mesothelioma, these studies also suggest that multiple factors contribute to the promotion, cell proliferation and apoptosis of malignant mesothelioma cells in vivo.
PubMed ID
11307155 View in PubMed
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7 records – page 1 of 1.