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The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects.

https://arctichealth.org/en/permalink/ahliterature85800
Source
J Clin Endocrinol Metab. 2008 Jun;93(6):2294-9
Publication Type
Article
Date
Jun-2008
Author
Grarup Niels
Andreasen Camilla H
Andersen Mette K
Albrechtsen Anders
Sandbaek Annelli
Lauritzen Torsten
Borch-Johnsen Knut
Jørgensen Torben
Schmitz Ole
Hansen Torben
Pedersen Oluf
Author Affiliation
Steno Diabetes Center, Niels Steensens Vej 1, Gentofte, Denmark. ngrp@steno.dk
Source
J Clin Endocrinol Metab. 2008 Jun;93(6):2294-9
Date
Jun-2008
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Cholesterol, HDL - blood
Cohort Studies
Denmark
Diabetes Mellitus, Type 2 - genetics
Fasting - blood
Genetic Predisposition to Disease
Genetic Screening
Genotype
Heterozygote
Humans
Insulin Resistance
Linkage Disequilibrium
Lipase - genetics
Motor Activity - genetics - physiology
Polymorphism, Single Nucleotide
Promoter Regions (Genetics)
Abstract
CONTEXT: Hepatic lipase plays a pivotal role in the metabolism of high-density lipoprotein (HDL) and low-density lipoprotein by involvement in reverse cholesterol transport and the formation of atherogenic small dense low-density lipoprotein. OBJECTIVES: The objective was to investigate the impact of variants in LIPC on metabolic traits and type 2 diabetes in a large sample of Danes. Because behavioral factors influence hepatic lipase activity, we furthermore examined possible gene-environment interactions in the population-based Inter99 study. DESIGN: The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = 6070), the Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care Denmark screening cohort of individuals with risk factors for undiagnosed type 2 diabetes (n = 8662), and in additional type 2 diabetic patients (n = 1,064) and glucose-tolerant control subjects (n = 360). RESULTS: In the Inter99 study, the A allele of rs2070895 associated with a 0.057 mmol/liter [95% confidence interval (CI) 0.039-0.075] increase in fasting serum HDL-cholesterol (HDL-c) (P = 8 x 10(-10)) supported by association in the Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care study [0.038 mmol/liter per allele (95% CI 0.024-0.053); P = 2 x 10(-7)). The allelic effect on HDL-c was modulated by interaction with self-reported physical activity (P(interaction) = 0.002) because vigorous physically active homozygous A-allele carriers had a 0.30 mmol/liter (95% CI 0.22-0.37) increase in HDL-c compared with homozygous G-allele carriers. CONCLUSIONS: We validate the association of LIPC promoter variation with fasting serum HDL-c and present data supporting an interaction with physical activity implying an increased effect on HDL-c in vigorous physically active subjects carrying the -250 A allele. This interaction may have potential implications for public health and disease prevention.
PubMed ID
18364377 View in PubMed
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Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: rare T-cell receptor gene rearrangements are associated with poor outcome.

https://arctichealth.org/en/permalink/ahliterature88672
Source
Genes Chromosomes Cancer. 2009 Sep;48(9):795-805
Publication Type
Article
Date
Sep-2009
Author
Karrman Kristina
Forestier Erik
Heyman Mats
Andersen Mette K
Autio Kirsi
Blennow Elisabeth
Borgström Georg
Ehrencrona Hans
Golovleva Irina
Heim Sverre
Heinonen Kristiina
Hovland Randi
Johannsson Johann H
Kerndrup Gitte
Nordgren Ann
Palmqvist Lars
Johansson Bertil
Author Affiliation
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. kristina.karrman@med.lu.se
Source
Genes Chromosomes Cancer. 2009 Sep;48(9):795-805
Date
Sep-2009
Language
English
Publication Type
Article
Abstract
Clinical characteristics and cytogenetic aberrations were ascertained and reviewed in a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias (T-ALLs) diagnosed between 1992 and 2006 in the Nordic countries. Informative karyotypic results were obtained in 249 (87%) cases, of which 119 (48%) were cytogenetically abnormal. Most (62%) of the aberrant T-ALLs were pseudodiploid. Structural changes were more common than numerical ones; 86% displayed at least one structural abnormality and 41% at least one numerical anomaly. The most frequent abnormalities were T-cell receptor (TCR) gene rearrangements (20%) [TCR;11p13 (10%), TCR;10q24 (3%), TCR;other (8%)], del(9p) (17%), +8 (14%), del(6q) (12%), and 11q23 rearrangements (6%). The TCR;other group comprised the rare rearrangements t(X;14)(p11;q11), t(X;7)(q22;q34), t(1;14)(p32;q11), ins(14;5)(q11;q?q?), inv(7)(p15q34), t(8;14)(q24;q11), t(7;11)(q34;p15), and t(12;14)(p13;q11). The clinical characteristics of this Nordic patient cohort agreed well with previous larger series, with a median age of 9.0 years, male predominance (male/female ratio 3.1), median white blood cell (WBC) count of 66.5 x 10(9)/l, and a high incidence of mediastinal mass and central nervous system involvement (59% and 9.5%, respectively). These features did not differ significantly among the various genetic subgroups. 5-year event-free survival (EFS) and overall survival for all patients were 0.61 (+/-0.03) and 0.67 (+/-0.03), respectively. In a multivariate analysis, two factors affected negatively the EFS, namely a WBC count of > or =200 x 10(9)/l (P
PubMed ID
19530250 View in PubMed
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Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature.

https://arctichealth.org/en/permalink/ahliterature84311
Source
Genes Chromosomes Cancer. 2008 Feb;47(2):149-58
Publication Type
Article
Date
Feb-2008
Author
Forestier Erik
Gauffin Fredrika
Andersen Mette K
Autio Kirsi
Borgström Georg
Golovleva Irina
Gustafsson Britt
Heim Sverre
Heinonen Kristina
Heyman Mats
Hovland Randi
Johannsson Johann H
Kerndrup Gitte
Rosenquist Richard
Schoumans Jacqueline
Swolin Birgitta
Johansson Bertil
Nordgren Ann
Author Affiliation
Department of Clinical Sciences, Pediatrics, University of Umeå, Umeå, Sweden.
Source
Genes Chromosomes Cancer. 2008 Feb;47(2):149-58
Date
Feb-2008
Language
English
Publication Type
Article
Abstract
Although dic(9;20)(p13.2;q11.2) is a characteristic abnormality in childhood B-cell precursor acute lymphoblastic leukemias (BCP ALL), little is known about its clinical impact or the type and frequency of additional aberrations it may occur together with. We here review the clinical and cytogenetic features of a Nordic pediatric series of 24 patients with dic(9;20)-positive BCP ALL diagnosed 1996-2006, constituting 1.3% of the BCP ALL, as well as 47 childhood cases from the literature. Consistent immunophenotypic features of the Nordic cases included positivity for HLA-DR, CD10, CD19, CD20, and CD22 and negativity for T-cell and myeloid markers; no detailed immunophenotypes were reported for the previously published cases. In the entire cohort of 71 cases, the modal chromosome distribution was 45 (62%), 46 (21%), 47 (7%), 48 (4%), 49 (3%), 44 (1%), and 50 (1%). Additional changes were present in 63%, the most frequent of which were homozygous loss of CDKN2A (33%) and gains of chromosomes 21 (28%) and X (10%). The median patient age was 3 years, the female/male ratio was 2.0, the median white blood cell count was 24 x 10(9)/l, 11% had central nervous system involvement, and 5% had a mediastinal mass at diagnosis. Risk group stratification was nonstandard risk in 79%. The event-free survival and overall survival at 5 years for the 24 Nordic cases was 0.62 and 0.82, respectively. Thus, although relapses are quite common, postrelapse treatment of many patients is successful. This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045-2257/suppmat. (c) 2007 Wiley-Liss, Inc.
PubMed ID
17990329 View in PubMed
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Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature.

https://arctichealth.org/en/permalink/ahliterature78880
Source
Genes Chromosomes Cancer. 2007 May;46(5):440-50
Publication Type
Article
Date
May-2007
Author
Forestier Erik
Andersen Mette K
Autio Kirsi
Blennow Elisabeth
Borgström Georg
Golovleva Irina
Heim Sverre
Heinonen Kristina
Hovland Randi
Johannsson Johann H
Kerndrup Gitte
Nordgren Ann
Rosenquist Richard
Swolin Birgitta
Johansson Bertil
Author Affiliation
Pediatrics Unit, Department of Clinical Sciences, University of Umeå, Umeå, Sweden. erik.forestier@pediatri.umu.se
Source
Genes Chromosomes Cancer. 2007 May;46(5):440-50
Date
May-2007
Language
English
Publication Type
Article
Abstract
Between 1992 and 2004, 1,140 children (1 to
PubMed ID
17285576 View in PubMed
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High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005.

https://arctichealth.org/en/permalink/ahliterature80723
Source
Br J Haematol. 2006 Nov;135(3):352-4
Publication Type
Article
Date
Nov-2006
Author
Karrman Kristina
Forestier Erik
Andersen Mette K
Autio Kirsi
Borgström Georg
Heim Sverre
Heinonen Kristina
Hovland Randi
Kerndrup Gitte
Johansson Bertil
Author Affiliation
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. kristina.karrman@med.lu.se
Source
Br J Haematol. 2006 Nov;135(3):352-4
Date
Nov-2006
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 21 - genetics
Core Binding Factor Alpha 2 Subunit - genetics
Female
Finland - epidemiology
Genes, Neoplasm - genetics
Humans
Iceland - epidemiology
Incidence
Infant
Leukemia, B-Cell, Acute - epidemiology - genetics
Male
Neoplasm Proteins - genetics
Prognosis
Proto-Oncogene Proteins c-ets - genetics
Repressor Proteins - genetics
Scandinavia - epidemiology
Abstract
Trisomy 21 is common in ETV6/RUNX1-positive acute lymphoblastic leukaemia (ALL); both these aberrations are associated with a favourable outcome. The prognostic impact of +21 as a sole cytogenetic change could be due to a cryptic t(12;21)(p13;q22). The occurrence of ETV6/RUNX1 was determined in 66 childhood ALLs with an acquired +21 and a chromosome number
PubMed ID
16965388 View in PubMed
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Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival.

https://arctichealth.org/en/permalink/ahliterature86528
Source
Br J Haematol. 2008 Mar;140(6):665-72
Publication Type
Article
Date
Mar-2008
Author
Forestier Erik
Heyman Mats
Andersen Mette K
Autio Kirsi
Blennow Elisabeth
Borgström Georg
Golovleva Irina
Heim Sverre
Heinonen Kristina
Hovland Randi
Johannsson Johann H
Kerndrup Gitte
Nordgren Ann
Rosenquist Richard
Swolin Birgitta
Johansson Bertil
Author Affiliation
Department of Clinical Sciences, Paediatrics, University of Umeå, Umeå, Sweden. erik.forestier@pediatri.umu.se
Source
Br J Haematol. 2008 Mar;140(6):665-72
Date
Mar-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Child, Preschool
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 21 - genetics
Core Binding Factor Alpha 2 Subunit - genetics
Female
Humans
Infant
Male
Oncogene Proteins, Fusion - genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - diagnosis - genetics
Prognosis
Recurrence
Retrospective Studies
Survival Analysis
Translocation, Genetic
Abstract
The prognostic impact of t(12;21)(p13;q22) [ETV6/RUNX1 fusion] in paediatric acute lymphoblastic leukaemia (ALL) has been extensively debated, particularly with regard to the frequency of late relapses and appropriate treatment regimens. We have retrospectively collected 679 ALLs with known ETV6/RUNX1 status, as ascertained by fluorescence in situ hybridization or reverse-transcription polymerase chain reaction, treated according to the Nordic Society of Paediatric Haematology and Oncology -ALL-1992 protocol. The assigned risk groups/treatment modalities for the 171 (25%) patients with t(12;21)-positive ALLs were 74 (43%) standard risk, 71 (42%) intermediate risk and 26 (15%) high risk. The 5- and 10-year event-free survival (EFS) of the 171 patients was 80% and 75% respectively, with no significant differences among the three risk groups. Most of the relapses occurred in boys and were late, with almost 50% of all relapses occurring > or = 5 years after diagnosis. Of all relapses after 6 years, 80% occurred in the t(12;21)-positive group. The overall survival was 94% at 5 years and 88% at 10 years; thus, the treatment of patients in second or later remission is usually successful. As yet, there is no reliable plateau in the EFS curve, a fact that raises the question as to when the prognostic ramifications of ALLs harbouring ETV6/RUNX1 should be evaluated.
PubMed ID
18241254 View in PubMed
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6 records – page 1 of 1.