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Common variants in human CRC genes as low-risk alleles.

https://arctichealth.org/en/permalink/ahliterature98081
Source
Eur J Cancer. 2010 Apr;46(6):1041-8
Publication Type
Article
Date
Apr-2010
Author
Simone Picelli
Pawel Zajac
Xiao-Lei Zhou
David Edler
Claes Lenander
Johan Dalén
Fredrik Hjern
Nils Lundqvist
Ulrik Lindforss
Lars Påhlman
Kennet Smedh
Anders Törnqvist
Jörn Holm
Martin Janson
Magnus Andersson
Susanne Ekelund
Louise Olsson
Joakim Lundeberg
Annika Lindblom
Author Affiliation
Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.
Source
Eur J Cancer. 2010 Apr;46(6):1041-8
Date
Apr-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Case-Control Studies
Colorectal Neoplasms - epidemiology - genetics
Female
Genetic Predisposition to Disease - epidemiology - genetics
Genome-Wide Association Study
Genotype
Germ-Line Mutation - genetics
Humans
Male
Middle Aged
Penetrance
Polymorphism, Genetic
Risk factors
Sweden - epidemiology
Young Adult
Abstract
The genetic susceptibility to colorectal cancer (CRC) has been estimated to be around 35% and yet high-penetrance germline mutations found so far explain less than 5% of all cases. Much of the remaining variations could be due to the co-inheritance of multiple low penetrant variants. The identification of all the susceptibility alleles could have public health relevance in the near future. To test the hypothesis that what are considered polymorphisms in human CRC genes could constitute low-risk alleles, we selected eight common SNPs for a pilot association study in 1785 cases and 1722 controls. One SNP, rs3219489:G>C (MUTYH Q324H) seemed to confer an increased risk of rectal cancer in homozygous status (OR=1.52; CI=1.06-2.17). When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect. The latter, in particular showed an odds ratio of 0.76 (CI=0.60-0.97) among colon patients and 0.73 (CI=0.56-0.95) among rectal patients. In conclusion, our study suggests that common variants in human CRC genes could constitute low-risk alleles.
PubMed ID
20149637 View in PubMed
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Extensive linkage disequilibrium in small human populations in Eurasia.

https://arctichealth.org/en/permalink/ahliterature191788
Source
Am J Hum Genet. 2002 Mar;70(3):673-85
Publication Type
Article
Date
Mar-2002
Author
Henrik Kaessmann
Sebastian Zöllner
Anna C Gustafsson
Victor Wiebe
Maris Laan
Joakim Lundeberg
Mathias Uhlén
Svante Pääbo
Author Affiliation
Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Source
Am J Hum Genet. 2002 Mar;70(3):673-85
Date
Mar-2002
Language
English
Publication Type
Article
Keywords
Chromosome Mapping - methods
DNA, Mitochondrial - genetics
Finland
Food Supply
Gene Frequency
Genetic Variation - genetics
Genotype
Globins - genetics
Haplotypes - genetics
Humans
Linkage Disequilibrium - genetics
Lipoprotein Lipase - genetics
Microsatellite Repeats - genetics
Molecular Sequence Data
Peptidyl-Dipeptidase A - genetics
Polymorphism, Single Nucleotide - genetics
Sample Size
Siberia
Sweden
X Chromosome - genetics
Abstract
The extent of linkage disequilibrium (LD) was studied in two small food-gathering populations-Evenki and Saami-and two larger food-producing populations-Finns and Swedes-in northern Eurasia. In total, 50 single-nucleotide polymorphisms (SNPs) from five genes were genotyped using real-time pyrophosphate DNA sequencing, whereas 14 microsatellites were genotyped in two X-chromosomal regions. In addition, hypervariable region I of the mtDNA was sequenced to shed light on the demographic history of the populations. The SNP data, as well as the microsatellite data, reveal extensive levels of LD in Evenki and Saami when compared to Finns and Swedes. mtDNA-sequence variation is compatible with constant population size over time in Evenki and Saami but indicates population expansion in Finns and Swedes. Furthermore, the similarity between Finns and Swedes in SNP allele- and haplotype-frequency distributions indicate that these two populations may share a recent common origin. These findings suggest that populations such as the Evenki and the Saami, rather than the Finns, may be particularly suited for the initial coarse mapping of common complex diseases.
Notes
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PubMed ID
11813132 View in PubMed
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Rationale and design of the PREFERS (Preserved and Reduced Ejection Fraction Epidemiological Regional Study) Stockholm heart failure study: an epidemiological regional study in Stockholm county of 2.1 million inhabitants.

https://arctichealth.org/en/permalink/ahliterature282314
Source
Eur J Heart Fail. 2016 Oct;18(10):1287-1297
Publication Type
Article
Date
Oct-2016
Author
Cecilia Linde
Maria J Eriksson
Camilla Hage
Håkan Wallén
Bengt Persson
Matthias Corbascio
Joakim Lundeberg
Eva Maret
Martin Ugander
Hans Persson
Source
Eur J Heart Fail. 2016 Oct;18(10):1287-1297
Date
Oct-2016
Language
English
Publication Type
Article
Keywords
Biomarkers - blood
Biopsy
Epidemiologic Studies
Heart Failure - blood - diagnosis - epidemiology - physiopathology
Humans
Stroke Volume
Sweden - epidemiology
Abstract
Heart failure (HF) with preserved (HFpEF) or reduced (HFrEF) ejection fraction is associated with poor prognosis and quality of life. While the incidence of HFrEF is declining and HF treatment is effective, HFpEF is increasing, with no established therapy. PREFERS Stockholm is an epidemiological study with the aim of improving clinical care and research in HF and to find new targets for drug treatment in HFpEF (https://internwebben.ki.se/sites/default/files/20150605_4d_research_appendix_final.pdf).
Patients with new-onset HF (n = 2000) will be characterized at baseline and after 1-year follow-up by standardized protocols for clinical evaluation, echocardiography, and ECG. In one subset undergoing elective coronary bypass surgery (n = 100) and classified according to LV function, myocardial biopsies will be collected during surgery, and cardiac magnetic resonance (CMR) imaging will be performed at baseline and after 1 year. Blood and tissue samples will be stored in a biobank. We will characterize and compare new-onset HFpEF and HFrEF patients regarding clinical findings and cardiac imaging, genomics, proteomics, and transcriptomics from blood and cardiac biopsies, and by established biomarkers of fibrosis, inflammation, haemodynamics, haemostasis, and thrombosis. The data will be explored by state-of-the-art bioinformatics methods to investigate gene expression patterns, sequence variation, DNA methylation, and post-translational modifications, and using systems biology approaches including pathway and network analysis.
In this epidemiological HF study with biopsy studies in a subset of patients, we aim to identify new biomarkers of disease progression and to find pathophysiological mechanisms to support explorations of new treatment regimens for HFpEF.
PubMed ID
27384611 View in PubMed
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The role of p53 codon 72 and human papilloma virus status of cutaneous squamous cell carcinoma in the Swedish population.

https://arctichealth.org/en/permalink/ahliterature17062
Source
Acta Derm Venereol. 2004;84(6):439-44
Publication Type
Article
Date
2004
Author
Anna C Gustafsson
Zhi-Ping Ren
Anna Asplund
Fredrik Pontén
Joakim Lundeberg
Author Affiliation
Royal Institute of Technology, AlbaNova University Center, Department of Biotechnology, Stockholm, Sweden.
Source
Acta Derm Venereol. 2004;84(6):439-44
Date
2004
Language
English
Publication Type
Article
Keywords
Carcinoma, Squamous Cell - genetics - virology
Case-Control Studies
Codon
Condylomata Acuminata - genetics - virology
Epidermodysplasia Verruciformis - genetics
Gene Frequency
Genes, p53
Genetic Predisposition to Disease - genetics
Genotype
Humans
Loss of Heterozygosity
Papillomavirus, Human - genetics
Pilot Projects
Polymerase Chain Reaction
Research Support, Non-U.S. Gov't
Risk factors
Sweden
Tumor Virus Infections - genetics - virology
Abstract
The arginine variant of the p53 codon 72 polymorphism as well as anogenital and epidermodysplasia verruciformis (EV) types of human papilloma virus (HPV) are suggested to confer increased risk for developing cutaneous squamous cell carcinoma (SCC). In this pilot study, we analysed the p53 codon 72 genotype distribution in 106 microdissected samples from normal and tumour tissues of 53 cases of cutaneous SCC and 96 controls from Sweden. Both normal and tumour samples from cases of SCC were screened for anogenital and EV HPV. The p53Arg allele was not associated with the development of cutaneous SCC. Anogenital HPV (44%) was more prevalent than EV HPV (12%). Data also indicate that anogenital HPV is more common in tumour samples, but HPV infection was not identified as a significant risk factor for developing SCC. The presence of anogenital HPV, but not EV HPV might be a risk factor for development of cutaneous SCC.
PubMed ID
15844633 View in PubMed
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