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ABCG2 polymorphism markedly affects the pharmacokinetics of atorvastatin and rosuvastatin.

https://arctichealth.org/en/permalink/ahliterature150732
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Publication Type
Article
Date
Aug-2009
Author
J E Keskitalo
O. Zolk
M F Fromm
K J Kurkinen
P J Neuvonen
M. Niemi
Author Affiliation
Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Date
Aug-2009
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adult
Anticholesteremic Agents - pharmacokinetics
Area Under Curve
Cross-Over Studies
Drug Resistance, Multiple
European Continental Ancestry Group - genetics
Female
Finland
Fluorobenzenes - administration & dosage - blood - pharmacokinetics - urine
Genotype
Heptanoic Acids - administration & dosage - blood - pharmacokinetics - urine
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacokinetics
Linear Models
Male
Neoplasm Proteins - genetics
Polymorphism, Single Nucleotide
Pyrimidines - administration & dosage - blood - pharmacokinetics - urine
Pyrroles - administration & dosage - blood - pharmacokinetics - urine
Reference Values
Sulfonamides - administration & dosage - blood - pharmacokinetics - urine
Abstract
The ABCG2 c.421C>A single-nucleotide polymorphism (SNP) was determined in 660 healthy Finnish volunteers, of whom 32 participated in a pharmacokinetic crossover study involving the administration of 20 mg atorvastatin and rosuvastatin. The frequency of the c.421A variant allele was 9.5% (95% confidence interval 8.1-11.3%). Subjects with the c.421AA genotype (n = 4) had a 72% larger mean area under the plasma atorvastatin concentration-time curve from time 0 to infinity (AUC(0-infinity)) than individuals with the c.421CC genotype had (n = 16; P = 0.049). In participants with the c.421AA genotype, the rosuvastatin AUC(0-infinity) was 100% greater than in those with c.421CA (n = 12) and 144% greater than in those with the c.421CC genotype. Also, those with the c.421AA genotype showed peak plasma rosuvastatin concentrations 108% higher than those in the c.421CA genotype group and 131% higher than those in the c.421CC genotype group (P
PubMed ID
19474787 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 Swedish male breast cancer family data: a simple way to incorporate a common sibling effect.

https://arctichealth.org/en/permalink/ahliterature21693
Source
Genet Epidemiol. 1998;15(2):201-12
Publication Type
Article
Date
1998
Author
P M Karunaratne
R C Elston
N. Loman
H. Olsson
J. Ranstam
Author Affiliation
Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, Case Western Reserve University, Cleveland, Ohio 44109, USA.
Source
Genet Epidemiol. 1998;15(2):201-12
Date
1998
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
BRCA2 Protein
Breast Neoplasms - epidemiology - genetics
Breast Neoplasms, Male - epidemiology - genetics
Cohort Studies
Data Interpretation, Statistical
Family Health
Female
Follow-Up Studies
Humans
Incidence
Male
Middle Aged
Models, Genetic
Models, Statistical
Mutation
Neoplasm Proteins - genetics
Prevalence
Regression Analysis
Research Support, U.S. Gov't, P.H.S.
Risk assessment
Sweden - epidemiology
Transcription Factors - genetics
Abstract
Based on a population-based cohort study, Olsson et al. [1993] found significant evidence for elevated incidence of breast and ovarian cancers among female first-degree relatives of men with breast cancer. Using an extension of logistic regressive models we investigate whether, after allowing for multifactorial familial correlations, single locus segregation could be the cause of the elevated incidence in these families. The logit for a given sib in the class D logistic regressive model depends on the order in which affected sibs occur in a sibship. That makes the model less appropriate for the situation where a polygenic component or a common sibling environment may be present, as well as being computationally cumbersome. In this paper, we propose to use the proportion of siblings in a sibship who are affected to quantify a sibling correlation. That not only relaxes the interchangeability problem but also makes the model computationally efficient. We then use this modified class D logistic regressive model for our segregation analysis. Using the proportion of siblings in a sibship who are affected as a covariate resulted in a significantly higher likelihoods in all the models we investigated. We found evidence for a dominant Mendelian gene leading to early age of onset of breast and/or ovarian cancer. This could either be a germline mutation of BRCA2 or a mutation in a gene different from BRCA2.
PubMed ID
9554557 View in PubMed
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Analysis of the fragile histidine triad (FHIT) gene in lobular breast cancer.

https://arctichealth.org/en/permalink/ahliterature20310
Source
Eur J Cancer. 2000 Aug;36(12):1552-7
Publication Type
Article
Date
Aug-2000
Author
C. Huiping
J G Jonasson
B A Agnarsson
B I Sigbjornsdottir
K. Huebner
S. Ingvarsson
Author Affiliation
Department of Pathology, University of Iceland, PO Box, 1465, IS-121, Reykjavik, Iceland.
Source
Eur J Cancer. 2000 Aug;36(12):1552-7
Date
Aug-2000
Language
English
Publication Type
Article
Keywords
Acid Anhydride Hydrolases
BRCA2 Protein
Breast Neoplasms - genetics
Carcinoma, Ductal, Breast - genetics
Carcinoma, Lobular - genetics
Female
Gene Deletion
Humans
Immunohistochemistry
Loss of Heterozygosity - genetics
Microsatellite Repeats
Neoplasm Proteins - genetics
Proteins - genetics
Research Support, Non-U.S. Gov't
Transcription Factors - genetics
Abstract
The fragile histidine triad (FHIT) gene is a candidate tumour suppressor gene in breast and other cancers. We investigated deletions within the FHIT gene in lobular breast cancer and found that 16% of cases showed loss of heterozygosity (LOH) within the gene. We compared LOH within FHIT in lobular and ductal breast tumours and found a significant association between LOH at FHIT and the ductal histological type (P
PubMed ID
10930803 View in PubMed
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An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

https://arctichealth.org/en/permalink/ahliterature23409
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Publication Type
Article
Date
Jan-1995
Author
S A Narod
D. Ford
P. Devilee
R B Barkardottir
H T Lynch
S A Smith
B A Ponder
B L Weber
J E Garber
J M Birch
Author Affiliation
Department of Medicine, McGill University, Montreal, Quebec, Canada.
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Date
Jan-1995
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
BRCA1 Protein
Breast Neoplasms - epidemiology - genetics
Breast Neoplasms, Male - epidemiology - genetics
Chromosomes, Human, Pair 17
Female
Genetic Heterogeneity
Genetic Predisposition to Disease
Humans
Iceland - epidemiology
Lod Score
Male
Middle Aged
Neoplasm Proteins - genetics
Neoplasms, Multiple Primary - epidemiology - genetics
Neoplastic Syndromes, Hereditary - epidemiology - genetics
Netherlands - epidemiology
Ovarian Neoplasms - epidemiology - genetics
Pedigree
Transcription Factors - genetics
Abstract
The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.
PubMed ID
7825586 View in PubMed
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Association of breast cancer progression with a vitamin D receptor gene polymorphism. South-East Sweden Breast Cancer Group.

https://arctichealth.org/en/permalink/ahliterature21019
Source
Cancer Res. 1999 May 15;59(10):2332-4
Publication Type
Article
Date
May-15-1999
Author
A C Lundin
P. Söderkvist
B. Eriksson
M. Bergman-Jungeström
S. Wingren
Author Affiliation
Department of Biomedicine and Surgery, Faculty of Health Sciences, Linköping, Sweden.
Source
Cancer Res. 1999 May 15;59(10):2332-4
Date
May-15-1999
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Antineoplastic Agents, Hormonal - pharmacology - therapeutic use
Breast Neoplasms - drug therapy - genetics - mortality - pathology
Deoxyribonucleases, Type II Site-Specific
Disease Progression
Estrogen Antagonists - pharmacology - therapeutic use
Female
Genotype
Humans
Incidence
Lymphatic Metastasis - genetics
Middle Aged
Neoplasm Proteins - genetics
Neoplasms, Hormone-Dependent - chemistry - drug therapy - mortality - pathology
Polymorphism, Restriction Fragment Length
Receptors, Calcitriol - genetics
Receptors, Estrogen - analysis
Research Support, Non-U.S. Gov't
Risk
Tamoxifen - pharmacology - therapeutic use
Abstract
The vitamin D3 receptor gene (VDR) contains a TaqI RFLP that is associated with increased VDR mRNA stability, increased serum levels of 1alpha,25-dihydroxyvitamin D3 (1,25-D3), and decreased risk for prostate cancer. Determination of the TaqI genotype, in a group of young women with breast cancer (n = 111; age,
PubMed ID
10344739 View in PubMed
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Association of indices of liver and adipocyte insulin resistance with 19 confirmed susceptibility loci for type 2 diabetes in 6,733 non-diabetic Finnish men.

https://arctichealth.org/en/permalink/ahliterature138653
Source
Diabetologia. 2011 Mar;54(3):563-71
Publication Type
Article
Date
Mar-2011
Author
J. Vangipurapu
A. Stancáková
J. Pihlajamäki
T M Kuulasmaa
T. Kuulasmaa
J. Paananen
J. Kuusisto
E. Ferrannini
M. Laakso
Author Affiliation
Department of Medicine, University of Eastern Finland, Kuopio University Hospital, 70210, Kuopio, Finland.
Source
Diabetologia. 2011 Mar;54(3):563-71
Date
Mar-2011
Language
English
Publication Type
Article
Keywords
ADAM Proteins - genetics
Adipocytes - metabolism - physiology
Antigens, Neoplasm - genetics
Cation Transport Proteins - genetics
Cell Cycle Proteins - genetics
Cyclin-Dependent Kinase 5 - genetics
Cyclin-Dependent Kinase Inhibitor p15 - genetics
Diabetes Mellitus, Type 2 - genetics - physiopathology
Finland
Genetic Predisposition to Disease - genetics
Hepatocyte Nuclear Factor 1-beta - genetics
Homeodomain Proteins - genetics
Humans
Insulin Resistance - genetics - physiology
Liver - metabolism - physiopathology
Male
Membrane Glycoproteins - genetics
Membrane Proteins - genetics
Middle Aged
Neoplasm Proteins - genetics
PPAR gamma - genetics
Polymorphism, Single Nucleotide
Potassium Channels, Inwardly Rectifying - genetics
RNA-Binding Proteins - genetics
Receptor, Notch2 - genetics
Tetraspanins
Transcription Factor 7-Like 2 Protein - genetics
Transcription Factors - genetics
Abstract
Of the confirmed type 2 diabetes susceptibility loci only a few are known to affect insulin sensitivity. We examined the association of indices of hepatic and adipocyte insulin resistance (IR) with 19 confirmed type 2 diabetes risk loci in a large population-based study.
Non-diabetic participants (n?=?8,460, age 57.3?±?7.0 years, BMI 26.8?±?3.8 kg/m(2); mean ± SD) from a population-based cohort underwent an OGTT. Of them, 6,733 non-diabetic men were genotyped for single nucleotide polymorphisms (SNPs) in or near PPARG2 (also known as PPARG), KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2B, IGF2BP2, CDKAL1, HNF1B, WFS1, JAZF1, CDC123, TSPAN8, THADA, ADAMTS9, NOTCH2, KCNQ1, MTNR1B and SNP rs7480010. We investigated hepatic IR with a new index of liver IR. The adipocyte IR index was defined as a product of fasting NEFA and plasma insulin levels.
Type 2 diabetes risk SNPs in or near KCNJ11 and HHEX were significantly (p?
PubMed ID
21153532 View in PubMed
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[Association of polymorphisms in toll-like receptor genes with atopic dermatitis in the Republic of Bashkortostan].

https://arctichealth.org/en/permalink/ahliterature265137
Source
Mol Biol (Mosk). 2014 Mar-Apr;48(2):265-76
Publication Type
Article
Author
G F Gimalova
A S Karunas
Iu Iu Fedorova
É R Gumennaia
S V Levasheva
Z R Khismatullina
E. Prans
S. Koks
É I Étkina
É K Khusnutdinova
Source
Mol Biol (Mosk). 2014 Mar-Apr;48(2):265-76
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Antigens, CD14 - genetics - immunology
Bashkiria
Case-Control Studies
Child
Child, Preschool
Chromosomes, Human, Pair 11
Dermatitis, Atopic - genetics - immunology - pathology
Female
Gene Expression
Gene Frequency
Gene-Environment Interaction
Genetic Loci
Genetic Predisposition to Disease
Humans
Male
Membrane Proteins - genetics - immunology
Middle Aged
Neoplasm Proteins - genetics - immunology
Nod1 Signaling Adaptor Protein - genetics - immunology
Nod2 Signaling Adaptor Protein - genetics - immunology
Nuclear Proteins - genetics - immunology
Polymorphism, Genetic
Repressor Proteins - genetics - immunology
Toll-Like Receptors - genetics - immunology
Abstract
Atopic dermatitis (AD) is a prevalent chronic inflammatory skin disease developing as a result of the interaction between genetic predisposition and environmental factors. Considerable role in allergic diseases development is played by polymorphisms of genes of pattern-recognition receptors (PRR) which are capable of recognizing conservative standard molecular structures (patterns) unique for large pathogen groups. In this study polymorphic variants of PRR genes--Toll-like receptors (TLR1, TLR2, TLR4, TLR5, TLR6, TLR9, TLR10), NOD-like receptors (NOD1, NOD2), lipopolysaccharide receptor CD14 gene, and C11orf30 and LRRC32 genes, located in 11q13.5 region, have been investigated in AD patients and control subjects from the Republic of Bashkortostan. An association of TLR1 (rs5743571 and rs5743604), TLR6 (rs5743794) and TLR10 (rs11466617) with AD was found. Our results confirm an important role of the innate immune system in the pathogenesis of AD and the significance of polymorphisms within the Toll-like receptor 2 subfamily genes in AD development.
PubMed ID
25850295 View in PubMed
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Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.

https://arctichealth.org/en/permalink/ahliterature92941
Source
Diabetes. 2008 Sep;57(9):2534-40
Publication Type
Article
Date
Sep-2008
Author
Grarup Niels
Andersen Gitte
Krarup Nikolaj T
Albrechtsen Anders
Schmitz Ole
Jørgensen Torben
Borch-Johnsen Knut
Hansen Torben
Pedersen Oluf
Author Affiliation
Steno Diabetes Center, Copenhagen, Denmark. ngrp@steno.dk
Source
Diabetes. 2008 Sep;57(9):2534-40
Date
Sep-2008
Language
English
Publication Type
Article
Keywords
ADAM Proteins - genetics
Adult
Antigens, Neoplasm - genetics
Calcium-Calmodulin-Dependent Protein Kinase Type 1 - genetics
Cell Cycle Proteins - genetics
Cohort Studies
Denmark - epidemiology
Diabetes Mellitus, Type 2 - diagnosis - epidemiology - genetics
Female
Genomics
Glucose Tolerance Test
Humans
Insulin Resistance - genetics
Male
Membrane Glycoproteins - genetics
Middle Aged
Neoplasm Proteins - genetics
Obesity - epidemiology - genetics
Risk factors
Abstract
OBJECTIVE: We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-associated variants in the JAZF1 (rs864745), CDC123/CAMK1D (rs12779790), TSPAN8 (rs7961581), THADA (rs7578597), ADAMTS9 (rs4607103), and NOTCH2 (rs10923931) loci, which were recently identified by meta-analysis of genome-wide association data. RESEARCH DESIGN AND METHODS: We genotyped the six variants in 4,516 middle-aged glucose-tolerant individuals of the population-based Inter99 cohort who were all characterized by an oral glucose tolerance test (OGTT). RESULTS: Homozygous carriers of the minor diabetes risk G-allele of the CDC123/CAMK1D rs12779790 showed an 18% decrease in insulinogenic index (95% CI 10-27%; P = 4 x 10(-5)), an 18% decrease in corrected insulin response (CIR) (8.1-29%; P = 4 x 10(-4)), and a 13% decrease in the ratio of area under the serum-insulin and plasma-glucose curves during an OGTT (AUC-insulin/AUC-glucose) (5.8-20%; P = 4 x 10(-4)). Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dependent 3% decrease in BIGTT-AIR (0.9-4.3%; P = 0.003). Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated with decreased levels of CIR (4.5% [0.5-8.4]; P = 0.03), of AUC-insulin/AUC-glucose ratio (3.9% [1.2-6.7]; P = 0.005), and of the insulinogenic index (5.2% [1.9-8.6]; P = 0.002). No association with traits of insulin release or insulin action was observed for the THADA, ADAMTS9, or NOTCH2 variants. CONCLUSIONS: If replicated, our data suggest that type 2 diabetes at-risk alleles in the JAZF1, CDC123/CAMK1D, and TSPAN8 loci associate with various OGTT-based surrogate measures of insulin release, emphasizing the contribution of abnormal pancreatic beta-cell function in the pathogenesis of type 2 diabetes.
PubMed ID
18567820 View in PubMed
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154 records – page 1 of 16.