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109 records – page 1 of 11.

The -629C>A polymorphism in the CETP gene does not explain the association of TaqIB polymorphism with risk and age of myocardial infarction in Icelandic men.

https://arctichealth.org/en/permalink/ahliterature53840
Source
Atherosclerosis. 2001 Nov;159(1):187-92
Publication Type
Article
Date
Nov-2001
Author
G. Eiriksdottir
M K Bolla
B. Thorsson
G. Sigurdsson
S E Humphries
V. Gudnason
Author Affiliation
Molecular Genetics Laboratory, Hjartavernd, Icelandic Heart Association, Lagmuli 9, 108, Reykjavik, Iceland. gudny@hjarta.is
Source
Atherosclerosis. 2001 Nov;159(1):187-92
Date
Nov-2001
Language
English
Publication Type
Article
Keywords
Aged
Carrier Proteins - genetics
Gene Frequency
Genotype
Glycoproteins
Homozygote
Humans
Iceland
Linkage Disequilibrium
Lipids - blood
Lipoproteins, HDL Cholesterol - blood
Male
Myocardial Infarction - blood - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Promoter Regions (Genetics) - genetics
Prospective Studies
Research Support, Non-U.S. Gov't
Risk factors
Abstract
The aim of this study was to examine whether the well-established effect of the common TaqIB polymorphism in intron 1 of the gene for cholesterol ester transfer protein (CETP) on high density lipoprotein cholesterol (HDL-C) concentration and increased risk of myocardial infarction (MI), could be explained by the recently identified -629C>A functional polymorphism in the promoter. Non-fatal MI cases (388 male) and a control group of 794 healthy men were recruited from the 30 year long prospective Reykjavik Study. In the healthy men the frequency of the TaqIB B2 allele was 0.47 (95% CI: 0.44-0.50) and there was a strong allelic association with the -629A allele (D=-0.21, P
PubMed ID
11689220 View in PubMed
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Acquired macrolide resistance genes in pathogenic Neisseria spp. isolated between 1940 and 1987.

https://arctichealth.org/en/permalink/ahliterature182672
Source
Antimicrob Agents Chemother. 2003 Dec;47(12):3877-80
Publication Type
Article
Date
Dec-2003
Author
Sydney Cousin
William L H Whittington
Marilyn C Roberts
Author Affiliation
Department of Pathobiology, University of Washington, Seattle, Washington 98195, USA.
Source
Antimicrob Agents Chemother. 2003 Dec;47(12):3877-80
Date
Dec-2003
Language
English
Publication Type
Article
Keywords
Anti-Bacterial Agents - pharmacology
Conjugation, Genetic
Denmark - epidemiology
Drug Resistance, Bacterial
Genes, Bacterial - genetics
Genotype
Gonorrhea - epidemiology - microbiology
Humans
In Situ Hybridization
Meningococcal Infections - epidemiology - microbiology
Methyltransferases - genetics
Neisseria gonorrhoeae - drug effects - genetics
Neisseria meningitidis - drug effects - genetics
Promoter Regions, Genetic - genetics
Reverse Transcriptase Polymerase Chain Reaction
Time Factors
Abstract
Seventy-six Neisseria gonorrhoeae isolates, isolated between 1940 and 1987, and seven Neisseria meningitidis isolates, isolated between 1963 and 1987, were screened for the presence of acquired mef(A), erm(B), erm(C), and erm(F) genes by using DNA-DNA hybridization, PCR analysis, and sequencing. The mef(A), erm(B), and erm(F) genes were all identified in a 1955 N. gonorrhoeae isolate, while the erm(C) gene was identified in a 1963 N. gonorrhoeae isolate. Similarly, both the mef(A) and erm(F) genes were identified in a 1963 N. meningitidis isolate. All four acquired genes were found in later isolates of both species. The mef(A) gene from a 1975 N. gonorrhoeae isolate was sequenced and had 100% DNA and amino acid identity with the mef(A) gene from a 1990s Streptococcus pneumoniae isolate. Selected early isolates were able to transfer their acquired genes to an Enterococcus faecalis recipient, suggesting that these genes are associated with conjugative transposons. These isolates are the oldest of any species to carry the mef(A) gene and among the oldest to carry these erm genes.
Notes
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PubMed ID
14638497 View in PubMed
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Adolescent girls and criminal activity: role of MAOA-LPR genotype and psychosocial factors.

https://arctichealth.org/en/permalink/ahliterature167096
Source
Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):159-64
Publication Type
Article
Date
Mar-5-2007
Author
Rickard L Sjöberg
Kent W Nilsson
Hanna-Linn Wargelius
Jerzy Leppert
Leif Lindström
Lars Oreland
Author Affiliation
Centre for Clinical Research, Uppsala University, Central Hospital Västerås, Västerås, Sweden. rickard.sjoberg@ltv.se
Source
Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):159-64
Date
Mar-5-2007
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Antisocial Personality Disorder - enzymology - epidemiology - psychology
Female
Genotype
Housing
Humans
Monoamine Oxidase - genetics
Promoter Regions, Genetic - genetics
Questionnaires
Risk factors
Sex Offenses
Sweden - epidemiology
Abstract
Recent findings among boys show that interactions between a polymorphism in the monoamine oxidase A gene promoter region (MAOA-LPR) and psychosocial factors predict criminal activity. The objective of this study was to investigate whether this finding could be extended to adolescent girls. One hundred nineteen female adolescents were recruited among respondents to a cross-sectional study of the total population of 16- and 19-year old girls. These girls constituted a randomly selected sub-sample from groups representing different degrees of risk behavior. The subjects filled in a questionnaire and were interviewed and genotyped with regard to MAOA-LPR. The results indicate that the long, (4-repeat) allele confer an increased risk for criminal behavior in the presence of psychosocial risk. Among girls without social risk, MAOA-LPR genotype was of no importance for criminal behavior. The present results suggest that previous observations on adolescent males, which demonstrate that the short MAOA-LPR genotype and psychosocial adversity interact to predict criminal activity, may not be applicable to females.
PubMed ID
17034017 View in PubMed
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Altered DNA methylation profile in Norwegian patients with Autoimmune Addison's Disease.

https://arctichealth.org/en/permalink/ahliterature104635
Source
Mol Immunol. 2014 Jun;59(2):208-16
Publication Type
Article
Date
Jun-2014
Author
Trine E Bjanesoy
Bettina Kulle Andreassen
Eirik Bratland
Andrew Reiner
Shahinul Islam
Eystein S Husebye
Marit Bakke
Author Affiliation
Department of Biomedicine, University of Bergen, Jonas Lies vei 91, 5009 Bergen, Norway.
Source
Mol Immunol. 2014 Jun;59(2):208-16
Date
Jun-2014
Language
English
Publication Type
Article
Keywords
Addison Disease - genetics - immunology
Adrenal Cortex - cytology - immunology
Adult
Autoimmunity - immunology
CD4-Positive T-Lymphocytes - cytology
DNA Methylation
Female
Genetic Predisposition to Disease
Humans
Middle Aged
Norway
Promoter Regions, Genetic - genetics
Young Adult
Abstract
Autoimmune Addison's Disease (AAD) is an endocrine and immunological disease of uncertain pathogenesis resulting from the immune system's destruction of the hormone producing cells of the adrenal cortex. The underlying molecular mechanisms are largely unknown, but it is commonly accepted that a combination of genetic susceptibility and environmental impact is critical. In the present study, we identified multiple hypomethylated gene promoter regions in patients with isolated AAD using DNA isolated from CD4+ T cells. The identified differentially methylated regions were distributed evenly across the 10.5-kb-promoter regions covered by the array, and a substantial number localized to promoters of genes involved in immune regulation and autoimmunity. This study reveals a hypomethylated status in CD4+ T cells from AAD patients and indicates differential methylation of promoters of key genes involved in immune responses.
PubMed ID
24667071 View in PubMed
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Analysis of 5-hydroxytryptamine 2c receptor gene promoter variants as alcohol-dependence risk factors.

https://arctichealth.org/en/permalink/ahliterature9417
Source
Alcohol Alcohol. 2004 Sep-Oct;39(5):380-5
Publication Type
Article
Author
Salim Mottagui-Tabar
Shane McCarthy
Jana Reinemund
Björn Andersson
Claes Wahlestedt
Markus Heilig
Author Affiliation
Center for Genomics and Bioinformatics, Karolinska Institutet, Stockholm, Sweden.
Source
Alcohol Alcohol. 2004 Sep-Oct;39(5):380-5
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alcoholism - diagnosis - ethnology - genetics
DNA - blood
DNA Primers - genetics
Diagnostic and Statistical Manual of Mental Disorders
Female
Gene Frequency - genetics
Genotype
Haplotypes - genetics
Humans
Male
Middle Aged
Minisatellite Repeats - genetics
Polymorphism, Genetic - genetics
Promoter Regions (Genetics) - genetics
Receptor, Serotonin, 5-HT2C - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sex Distribution
Abstract
AIMS: To examine whether polymorphic variants of the HTR2C gene are associated with diagnosis of alcohol dependence. METHODS: We compared allele frequencies of five HTR2C promoter polymorphisms in a Nordic population of alcohol dependent individuals (Males: n = 309; Females: n = 127) and ethnically matched controls (Males: n = 83; Females: n = 190) in whom alcohol dependence was established, or any diagnosis of substance disorder was excluded, respectively. Patients were further subtyped into Type I (late onset) and Type II (early onset) alcoholics. RESULTS: None of the individual polymorphisms indicated significant association with alcohol dependence. A common promoter haplotype (GAGG) exhibited different distribution frequencies between males and females (Type I), however on Bonferroni's multiple-testing correction, this observation proved to be insignificant. CONCLUSIONS: Although we report a lack of association between alcohol dependence and five common promoter polymorphisms, and the constituted haplotypes, the analysis tends to indicate gender and sub-type differences. We suggest that a follow up study with larger sample numbers should be performed to improve the power to detect the genetic influences of HTR2C in alcohol dependence.
PubMed ID
15304380 View in PubMed
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Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation.

https://arctichealth.org/en/permalink/ahliterature19019
Source
Genes Chromosomes Cancer. 2002 Aug;34(4):384-9
Publication Type
Article
Date
Aug-2002
Author
Minna Allinen
Liisa Peri
Sonja Kujala
Jaana Lahti-Domenici
Kati Outila
Sanna-Maria Karppinen
Virpi Launonen
Robert Winqvist
Author Affiliation
Department of Clinical Genetics, University Hospital, University of Oulu, FIN-90029 OYS, Oulu, Finland.
Source
Genes Chromosomes Cancer. 2002 Aug;34(4):384-9
Date
Aug-2002
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
Cell Cycle Proteins
Chromosomes, Human, Pair 11 - genetics
CpG Islands - genetics
DNA Methylation
DNA Mutational Analysis - methods
DNA-Binding Proteins - genetics
Female
Genes, Tumor Suppressor
Humans
Immunoglobulins
Loss of Heterozygosity - genetics
Membrane Proteins
Neoplasm Proteins - genetics
Promoter Regions (Genetics) - genetics
Protein Kinases - genetics
Protein-Serine-Threonine Kinases - genetics
Proteins - genetics
Research Support, Non-U.S. Gov't
Tumor Suppressor Proteins
Abstract
Loss of heterozygosity (LOH) at the distal half of chromosome arm 11q is frequent in a variety of human tumors, including breast cancer, and is often associated with poor prognosis. In an ongoing attempt to locate and characterize the main target genes within this chromosome region, we first looked for aberrations in known genes either suggested to be involved in tumorigenesis or shown to suppress tumor formation. We examined 31 primary breast tumors showing LOH in 11q21-24 for mutations in the MRE11A, CHK1, PPP2R1B, and TSLC1 genes. The absence of intragenic alterations related to cancer led us next to evaluate possible gene silencing resulting from promoter region CpG hypermethylation, using the bisulfite sequencing technique. In addition to the four genes mentioned above, we also analyzed the ATM gene, which had been investigated for certain germline mutations in an earlier study. Only the TSLC1 promoter region exhibited aberrant methylation patterns, and altogether 33% (10/30) of the successfully analyzed tumors showed evidence of elevated levels of TSLC1 CpG methylation. Ten percent (3/30) of the tumors showed significantly increased methylation. Thus, as has been shown in lung and some other forms of cancer, hypermethylation of the TSLC1 promoter region is also frequently a second hit along with LOH in breast cancer.
PubMed ID
12112527 View in PubMed
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Analysis of monoamine oxidase A (MAOA) promoter polymorphism in Finnish male alcoholics.

https://arctichealth.org/en/permalink/ahliterature190759
Source
Psychiatry Res. 2002 Mar 15;109(2):113-9
Publication Type
Article
Date
Mar-15-2002
Author
Takuya Saito
Herbert M Lachman
Libna Diaz
Tero Hallikainen
Jussi Kauhanen
Jukka T Salonen
Olli-Pekka Ryynänen
Matti K Karvonen
Erkka Syvälahti
Tiina Pohjalainen
Jarmo Hietala
Jari Tiihonen
Author Affiliation
Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.
Source
Psychiatry Res. 2002 Mar 15;109(2):113-9
Date
Mar-15-2002
Language
English
Publication Type
Article
Keywords
Adult
Alcoholism - classification - genetics
Alleles
Aneuploidy
Antisocial Personality Disorder - genetics
Finland
Genetic Linkage - genetics
Heterozygote Detection
Humans
Klinefelter Syndrome - genetics
Male
Middle Aged
Monoamine Oxidase - genetics
Polymorphism, Genetic - genetics
Promoter Regions, Genetic - genetics
X Chromosome
Abstract
Alterations in monoamine oxidase A (MAOA) expression and enzyme activity may be associated with alcoholism and impulsive behavior. Therefore, functional polymorphisms in the MAOA gene would be good candidates to consider in the interindividual differences that exist in the susceptibility to alcoholism. One variant that has been considered as a candidate in alcoholism is a repeat polymorphism in the MAOA gene promoter. We analyzed a cohort of Finnish males with either type 1 or type 2 alcoholism, as well as controls, for differences in the distribution of MAOA promoter alleles. Based on other studies, we postulated that type 2 alcoholism, which is associated with antisocial behavior, but not type 1 alcoholism, would be correlated with the inheritance of the low promoter activity allele. However, we failed to find a difference in allele distribution in type 1 and type 2 alcoholics. In addition, there was no difference in the allele distribution when each group of alcoholics was compared with controls. However, when both groups of alcoholics were pooled and compared with controls, the difference in allele distribution reached a trend towards significance. Our results suggest a minimal association between the MAOA low activity promoter alleles and alcoholism, regardless of the presence or absence of antisocial behavior. Interestingly, approximately 3% of type 2 alcoholics were found to be heterozygous for the MAOA promoter polymorphism. Since MAOA is X-linked, the heterozygotes are probable cases of Klinefelter's syndrome (47,XXY) suggesting that X-chromosome aneuploidy may increase the risk for developing type 2 alcoholism.
PubMed ID
11927135 View in PubMed
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[Analysis of polymorphism of the interleukin-4 gene of healthy and HIV-infected persons]

https://arctichealth.org/en/permalink/ahliterature7401
Source
Zh Mikrobiol Epidemiol Immunobiol. 2001 Nov-Dec;(6):28-32
Publication Type
Article
Author
V I Konenkov
M V Smol'nikova
V A Kozlov
S V Sennikov
L P Siziakina
E. Taleb
Author Affiliation
Institute of Clinical Immunology, Siberian Branch, Russian Academy of Medical Sciences, Novosibirsk, Russia.
Source
Zh Mikrobiol Epidemiol Immunobiol. 2001 Nov-Dec;(6):28-32
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Cells, Cultured
Comparative Study
Concanavalin A - pharmacology
English Abstract
European Continental Ancestry Group
HIV Infections - genetics - immunology
Homozygote
Humans
Interleukin-4 - biosynthesis - genetics
Leukocytes, Mononuclear - drug effects - immunology
Male
Middle Aged
Polymorphism, Genetic
Promoter Regions (Genetics) - genetics
Sex Factors
Statistics, nonparametric
Abstract
The distribution of the allel variants of the promoter area (C = 590T) of the interleukin-4 (IL-4) gene in HIV-infected and relatively healthy representatives of the Caucasoid population has been studied. The relationship between the genotypes of this polymorphism and the production of IL-4 by mononuclear cells of peripheral blood as well as distribution of IL-4 genotypes among males and females is analyzed. The occurrence of the homozygous combination of the allel variant C/C of the promoter of IL-4 has been shown to prevail almost twofold over the occurrence of the variant C/T among healthy donors and HIV-infected patients. Sexual differences play an essential role in the character of inheriting the allel variants of the genes of IL-4, the presence of the homozygous variant C/C or T/T being a risk factor of HIV infection in males. As revealed in this study, in the peripheral blood of healthy donors mononuclear cells having genotype C/C differ from cells with the heterozygous variant C/T in higher spontaneous production of IL-4 and, simultaneously, in lower capacity for the activation of its production in response to stimulation with mitogen. In HIV-infected patients mononuclear cells differ in higher spontaneous production of IL-4 in comparison with controls. We may thus infer that the human genotype controlling the initial level of the production of IL-4 by lymphocytes Th2 may influence the intensity of antibody production in the process of infection.
PubMed ID
11881490 View in PubMed
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Apolipoprotein M promoter polymorphisms alter promoter activity and confer the susceptibility to the development of type 1 diabetes.

https://arctichealth.org/en/permalink/ahliterature91270
Source
Clin Biochem. 2009 Jan;42(1-2):17-21
Publication Type
Article
Date
Jan-2009
Author
Wu Xiaopan
Niu Nifang
Brismar Kerstin
Zhu Xilin
Wang Xin
Efendic Suad
Du Te
Liu Yang
Gu Harvest F
Liu Ying
Author Affiliation
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China. wuxiaopan1984@tom.com
Source
Clin Biochem. 2009 Jan;42(1-2):17-21
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Apolipoproteins - genetics - physiology
Asian Continental Ancestry Group
Cell Line
China
Diabetes Mellitus, Type 1 - epidemiology - genetics
European Continental Ancestry Group
Genetic Predisposition to Disease
Genotype
Humans
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length - genetics
Polymorphism, Single Nucleotide - genetics - physiology
Promoter Regions, Genetic - genetics
Abstract
OBJECTIVES: Apolipoprotein M plays an important role in the formation of prebeta-HDL and cholesterol efflux to HDL. In the present study, we investigate the potential association between the ApoM promoter polymorphisms and type 1 diabetes. DESIGN AND METHODS: The study was conducted in Peking Union Medical College, Beijing, China and Karolinska Institutet, Stockholm, Sweden. Two populations, including 493 Han Chinese subjects (177 T1D patients/316 controls) and 225 Swedish (124/101), are enrolled in the present study. Three single nucleotide polymorphisms (SNP) C-1065A, T-855C and T-778C in the promoter region of the ApoM gene are genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) protocol. Promoter activity was measured by reporter gene assay. RESULTS: SNP T-778C was strongly associated with T1D in both Han Chinese (p=0.002, OR=2.188, CI 95%=1.338-3.581) and Swedish (p=0.021, OR=2.865, CI 95%=1.128-7.278) populations. The luciferase activity of -778C promoter was 1.41 times as high as that of -778T promoter (9.90+/-1.92 vs. 7.04+/-0.76, p=0.001). CONCLUSIONS: Allele C of SNP T-778C may increase promoter activity and confer the risk susceptibility to the development of T1D.
PubMed ID
19007767 View in PubMed
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[Associating of polymorphism in the promoter regions of genes of metalloproteinase (MMP2, MMP3, MMP9) with options of the clinical course of breast cancer in Russian women].

https://arctichealth.org/en/permalink/ahliterature262219
Source
Vopr Onkol. 2014;60(5):630-5
Publication Type
Article
Date
2014
Author
A V Shevchenko
V I Konenkov
E Iu Garbukov
M N Stakheeva
Source
Vopr Onkol. 2014;60(5):630-5
Date
2014
Language
Russian
Publication Type
Article
Keywords
Adult
Aged
Breast Neoplasms - enzymology - genetics - pathology
Female
Genetic Predisposition to Disease
Genotype
Humans
Matrix Metalloproteinase 2 - genetics
Matrix Metalloproteinase 3 - genetics
Matrix Metalloproteinase 9 - genetics
Middle Aged
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Promoter Regions, Genetic - genetics
Risk factors
Russia
Abstract
There were analyzed associating of functional polymorphism of the promoter regions of genes MMP2 C--1306T, MMP 9 C--1562 T, MMP3 5A--1171 6A in a group of healthy women and breast cancer patients in order to identify informative markers associated with the risk of developing the disease. The study included 395 DNA samples from women with breast cancer and 329 healthy women. Genotyping of polymorphisms was carried out by restriction analysis of amplification products (RFLP-analysis). Among female patients there was revealed significantly seldom a carrier of 6A6A MMP3-1117 and MMP 9-1562TT genotypes and also significantly increased the frequency of MMP3 5A6A genotype. The risk of lymph node metastasis reduced in patients with MMP9-1562CC genotype. Conversely heterozygosis at this position could be regarded as risk factor for metastasis. It was revealed associating of MMP3 5A6A genotype with the degree of malignancy.
PubMed ID
25816670 View in PubMed
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109 records – page 1 of 11.