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Acute bacterial, nonnecrotizing cellulitis in Finland: microbiological findings.

https://arctichealth.org/en/permalink/ahliterature158912
Source
Clin Infect Dis. 2008 Mar 15;46(6):855-61
Publication Type
Article
Date
Mar-15-2008
Author
Tuula Siljander
Matti Karppelin
Susanna Vähäkuopus
Jaana Syrjänen
Maija Toropainen
Juha Kere
Risto Vuento
Tapio Jussila
Jaana Vuopio-Varkila
Author Affiliation
Department of Bacterial and Inflammatory Diseases, National Public Health Institute, Helsinki, Finland. tuula.siljander@ktl.fi
Source
Clin Infect Dis. 2008 Mar 15;46(6):855-61
Date
Mar-15-2008
Language
English
Publication Type
Article
Keywords
Acute Disease
Adult
Aged
Aged, 80 and over
Blood - microbiology
Carrier State - microbiology
Case-Control Studies
Cellulitis - epidemiology - microbiology
Culture Media
Electrophoresis, Gel, Pulsed-Field
Family Characteristics
Female
Finland - epidemiology
Humans
Male
Middle Aged
Pharynx - microbiology
Streptococcal Infections - epidemiology - microbiology
Streptococcus - classification - genetics - isolation & purification
Abstract
Bacterial, nonnecrotizing cellulitis is a localized and often recurrent infection of the skin. The aim of this study was to identify the beta-hemolytic streptococci that cause acute nonnecrotizing cellulitis infection in Finland.
A case-control study of 90 patients hospitalized for acute cellulitis and 90 control subjects was conducted during the period of April 2004-March 2005. Bacterial swab samples were obtained from skin lesions or any abrasion or fissured toe web. Blood culture samples were taken for detection of bacteremia. The patients, their household members, and control subjects were assessed for pharyngeal carrier status. beta-Hemolytic streptococci and Staphylococcus aureus were isolated and identified, and group A and G streptococcal isolates were further analyzed by T serotyping and emm and pulsed-field gel electrophoresis typing.
beta-Hemolytic streptococci were isolated from 26 (29%) of 90 patients, 2 isolates of which were blood-culture positive for group G streptococci, and 24 patients had culture-positive skin lesions. Group G Streptococcus (Streptococcus dysgalactiae subsp. equisimilis) was found most often and was isolated from 22% of patient samples of either skin lesions or blood, followed by group A Streptococcus, which was found in 7% of patients. Group G streptococci were also carried in the pharynx of 7% of patients and 13% of household members but was missing from control subjects. Several emm and pulsed-field gel electrophoresis types were present among the isolates. Six patients (7%) had recurrent infections during the study. In 2 patients, the group G streptococcal isolates recovered from skin lesions during 2 consecutive episodes had identical emm and pulsed-field gel electrophoresis types.
Group G streptococci, instead of group A streptococci, predominated in bacterial cellulitis. No clear predominance of a specific emm type was seen. The recurrent nature of cellulitis became evident during this study.
PubMed ID
18260753 View in PubMed
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Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis.

https://arctichealth.org/en/permalink/ahliterature145255
Source
PLoS One. 2010;5(2):e9315
Publication Type
Article
Date
2010
Author
Mauro D'Amato
Marco Zucchelli
Maria Seddighzadeh
Francesca Anedda
Staffan Lindblad
Juha Kere
Lars Alfredsson
Lars Klareskog
Leonid Padyukov
Author Affiliation
Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Source
PLoS One. 2010;5(2):e9315
Date
2010
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Arthritis, Rheumatoid - epidemiology - genetics - pathology
Case-Control Studies
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Incidence
Linkage Disequilibrium
Male
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide
Receptors, G-Protein-Coupled - genetics
Risk factors
Sweden - epidemiology
Young Adult
Abstract
Polymorphism in the neuropeptide S receptor gene NPSR1 is associated with asthma and inflammatory bowel disease. NPSR1 is expressed in the brain, where it modulates anxiety and responses to stress, but also in other tissues and cell types including lymphocytes, the lungs, and the intestine, where it appears to be up-regulated in inflammation. We sought to determine whether genetic variability at the NPSR1 locus influences the susceptibility and clinical manifestation of rheumatoid arthritis (RA).
From the Epidemiological Investigation of Rheumatoid Arthritis (EIRA) case-control study, 1,888 rheumatoid arthritis patients and 888 controls were genotyped for 19 single-nucleotide polymorphisms (SNPs) spanning the entire NPSR1 gene and 220 KB of DNA on chromosome 7p14. The association between individual genetic markers and their haplotypic combinations, respectively, and diagnosis of RA, presence of autoantibodies to citrullinated proteins (ACPA), and disease activity score based on 28 joints (DAS28) was tested. There was no association between diagnosis of RA and NPSR1 variants. However, several associations of nominal significance were detected concerning susceptibility to ACPA-negative RA and disease activity measures (DAS28). Among these, the association of SNP rs324987 with ACPA-negative RA [(p=0.004, OR=0.674 (95% CI 0.512-0.888)] and that of SNP rs10263447 with DAS28 [p=0.0002, OR=0.380 (95% CI 0.227-0.635)] remained significant after correction for multiple comparisons.
NPSR1 polymorphism may be relevant to RA susceptibility and its clinical manifestation. Specific alleles at the NPSR1 locus may represent common risk factors for chronic inflammatory diseases, including RA.
Notes
Cites: Arthritis Rheum. 2000 Jan;43(1):30-710643697
Cites: Nat Genet. 2008 Oct;40(10):1216-2318794853
Cites: Science. 2004 Apr 9;304(5668):300-415073379
Cites: Arthritis Rheum. 1988 Mar;31(3):315-243358796
Cites: Arthritis Rheum. 2005 Oct;52(10):3058-6216200610
Cites: J Pharmacol Exp Ther. 2005 Dec;315(3):1338-4516144971
Cites: J Allergy Clin Immunol. 2006 Mar;117(3):612-716522461
Cites: Hum Mol Genet. 2006 May 15;15(10):1667-7916600990
Cites: J Biol Chem. 2006 Aug 25;281(34):24704-1216790440
Cites: Hum Mol Genet. 2006 Oct 1;15(19):2923-3516926187
Cites: Arthritis Rheum. 2007 Jul;56(7):2202-1017599733
Cites: Arthritis Rheum. 2007 Aug;56(8):2620-3217665455
Cites: Gastroenterology. 2007 Sep;133(3):808-1717854592
Cites: N Engl J Med. 2007 Sep 20;357(12):1199-20917804836
Cites: Nat Genet. 2007 Dec;39(12):1431-317982455
Cites: Nat Genet. 2007 Dec;39(12):1477-8217982456
Cites: Results Probl Cell Differ. 2008;46:145-5818204825
Cites: Arthritis Res Ther. 2008;10(2):20518394179
Cites: Ann Rheum Dis. 2003 Sep;62(9):835-4112922955
PubMed ID
20179762 View in PubMed
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Assessment of the neuropeptide S system in anxiety disorders.

https://arctichealth.org/en/permalink/ahliterature99248
Source
Biol Psychiatry. 2010 Sep 1;68(5):474-83
Publication Type
Article
Date
Sep-1-2010
Author
Jonas Donner
Rita Haapakoski
Sini Ezer
Erik Melén
Sami Pirkola
Mònica Gratacòs
Marco Zucchelli
Francesca Anedda
Lovisa E Johansson
Cilla Söderhäll
Christina Orsmark-Pietras
Jaana Suvisaari
Rocío Martín-Santos
Marta Torrens
Kaisa Silander
Joseph D Terwilliger
Magnus Wickman
Göran Pershagen
Jouko Lönnqvist
Leena Peltonen
Xavier Estivill
Mauro D'Amato
Juha Kere
Harri Alenius
Iiris Hovatta
Author Affiliation
Research Program of Molecular Neurology, Biomedicum Helsinki, Helsinki, Finland.
Source
Biol Psychiatry. 2010 Sep 1;68(5):474-83
Date
Sep-1-2010
Language
English
Publication Type
Article
Abstract
BACKGROUND: The G protein-coupled receptor neuropeptide S receptor 1 (NPSR1) and its ligand neuropeptide S (NPS) form a signaling system mainly implicated in susceptibility to asthma and inflammatory disorders in humans and regulation of anxiety and arousal in rodents. We addressed here the role of NPS and NPSR1 as susceptibility genes for human anxiety disorders. METHODS: We performed comprehensive association analysis of genetic variants in NPS and NPSR1 in three independent study samples. We first studied a population-based sample (Health 2000, Finland) of 321 anxiety disorder patients and 1317 control subjects and subsequently a Spanish clinical panic disorder sample consisting of 188 cases and 315 control subjects. In addition, we examined a birth cohort of 2020 children (Barn Allergi Miljö Stockholm Epidemiologi [BAMSE], Sweden). We then tested whether alleles of the most significantly associated single nucleotide polymorphisms alter DNA-protein complex formation in electrophoretic mobility shift assays. Finally, we compared acute stress responses on the gene expression level in wild-type and Npsr1(-/-) mice. RESULTS: We confirmed previously observed epidemiological association between anxiety and asthma in two population-based cohorts. Single nucleotide polymorphisms within NPS and NPSR1 associated with panic disorder diagnosis in the Finnish and Spanish samples and with parent-reported anxiety/depression in the BAMSE sample. Moreover, some of the implicated single nucleotide polymorphisms potentially affect transcription factor binding. Expression of neurotrophin-3, a neurotrophic factor connected to stress and panic reaction, was significantly downregulated in brain regions of stressed Npsr1(-/-) mice, whereas interleukin-1 beta, an active stress-related immunotransmitter, was upregulated. CONCLUSIONS: Our results suggest that NPS-NPSR1 signaling is likely involved in anxiety.
PubMed ID
20705147 View in PubMed
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Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes.

https://arctichealth.org/en/permalink/ahliterature176699
Source
J Allergy Clin Immunol. 2005 Jan;115(1):80-7
Publication Type
Article
Date
Jan-2005
Author
Maritta Pykäläinen
Riikka Kinos
Sanna Valkonen
Pia Rydman
Maritta Kilpeläinen
Lauri A Laitinen
Jussi Karjalainen
Markku Nieminen
Mikko Hurme
Juha Kere
Tarja Laitinen
Riitta Lahesmaa
Author Affiliation
Turku Centre for Biotechnology, University of Turku and Abo Academic University, Finland. maritta.pykalainen@btk.fi
Source
J Allergy Clin Immunol. 2005 Jan;115(1):80-7
Date
Jan-2005
Language
English
Publication Type
Article
Keywords
Adult
Asthma - blood - epidemiology - genetics
Case-Control Studies
Cohort Studies
DNA-Binding Proteins - genetics
Finland - epidemiology
GATA3 Transcription Factor
Genotype
Haplotypes
Humans
Immunoglobulin E - blood
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
STAT4 Transcription Factor
STAT6 Transcription Factor
Signal Transduction - genetics
Trans-Activators - genetics
Abstract
Immune responses characterized by T H 2 type cells and IgE are important for the development of asthma and atopy. The transcription factors STAT6, GATA3, and STAT4 mediate the cytokine-induced development of naive CD4 + T cells into either T H 1 or T H 2 type.
We studied genetic variation of the STAT6, GATA3, and STAT4 genes and examined whether single nucleotide polymorphisms (SNPs) in these loci were associated with asthma or serum high IgE levels in the Finnish asthmatic families.
With denaturing high-performance liquid chromatography we screened all exons and exon-intron boundaries of the genes in 14 to 22 patients. All identified SNPs were genotyped in 120 nuclear families, and the haplotypes were analyzed by Haplotype Pattern Mining based statistical analysis. When potential association was observed, the analysis was replicated among 245 asthmatic patients and 405 population-based control subjects.
A total of 23 SNPs were identified, of which 8 were not previously listed in the SNP database. Interestingly, a haplotype analysis of GATA3 showed 3 related haplotypes that associated with different asthma and atopy related phenotypes among both the family and case-control data sets. For STAT6 and STAT4, no significant association to asthma or serum total IgE levels was observed.
We identified a panel of novel SNPs in genes coding for proteins important in the T H 1/T H 2 cell differentiation. SNPs of the GATA3 gene showed an initial association to asthma-related phenotypes. Elucidation of the importance of the identified panel of SNPs in other T H 1/T H 2 mediated diseases will be of great interest.
PubMed ID
15637551 View in PubMed
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Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study.

https://arctichealth.org/en/permalink/ahliterature153479
Source
Thromb Res. 2009 Jun;124(2):167-73
Publication Type
Article
Date
Jun-2009
Author
Leena M Hiltunen
Hannele Laivuori
Anna Rautanen
Risto Kaaja
Juha Kere
Tom Krusius
Mikko Paunio
Vesa Rasi
Author Affiliation
Department of Hemostasis, Finnish Red Cross Blood Service, Helsinki, Finland. leena.hiltunen@bts.redcross.fi
Source
Thromb Res. 2009 Jun;124(2):167-73
Date
Jun-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Blood Group Antigens - genetics
Case-Control Studies
Factor V - genetics
Female
Finland
Humans
Odds Ratio
Population Groups - genetics
Pre-Eclampsia - blood - etiology - genetics
Pregnancy
Risk factors
Young Adult
Abstract
Pre-eclampsia is an important cause of maternal morbidity and mortality. Its etiology is still unknown. Clinical symptoms correlate with activation of coagulation and inherited thrombophilia has been associated with pre-eclampsia. ABO blood group has been associated with thrombotic disorders and pre-eclampsia. We assessed ABO blood group, seven thrombophilia associated polymorphisms, and anti-beta2-glycoprotein I antibodies as risk factors for pre-eclampsia.
We performed a population-based nested case-control study of 100,000 consecutive pregnancies in Finland. Cases and controls were identified by combining national registers and medical records were reviewed. We studied 248 cases fulfilling strict criteria for pre-eclampsia and 679 controls. Severe pre-eclampsia, early pre-eclampsia, and pre-eclampsia with intra-uterine growth restriction (IUGR) were analyzed separately.
Blood group AB increased the risk for pre-eclampsia as a whole (OR 2.1, 95% CI 1.3-3.5), and in the three subgroups (OR 2.3, 3.8, 3.4; 95% CI 1.3-3.9, 2.0-7.1, 1.6-7.1). FV Leiden increased the risk as a whole (OR 1.7, 95% CI 0.8-3.9), and in the three subgroups, although not statistically significantly. Anti-beta2-glycoprotein I antibodies were not associated with pre-eclampsia. High body mass index, diabetes, first pregnancy, and twin pregnancy increased the risk from 1.5-fold to 8.2-fold.
Our results confirm and extend the prior observation of blood group AB being a risk factor for pre-eclampsia. ABO blood group is known from all pregnant women. The value of blood group as risk factor for pre-eclampsia should be further assessed in prospective studies. In this study, FV Leiden was not statistically significant risk factor.
PubMed ID
19110300 View in PubMed
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Characterization of a common susceptibility locus for asthma-related traits.

https://arctichealth.org/en/permalink/ahliterature180651
Source
Science. 2004 Apr 9;304(5668):300-4
Publication Type
Article
Date
Apr-9-2004
Author
Tarja Laitinen
Anne Polvi
Pia Rydman
Johanna Vendelin
Ville Pulkkinen
Paula Salmikangas
Siru Mäkelä
Marko Rehn
Asta Pirskanen
Anna Rautanen
Marco Zucchelli
Harriet Gullstén
Marina Leino
Harri Alenius
Tuula Petäys
Tari Haahtela
Annika Laitinen
Catherine Laprise
Thomas J Hudson
Lauri A Laitinen
Juha Kere
Author Affiliation
GeneOS Limited, 00251 Helsinki, Finland.
Source
Science. 2004 Apr 9;304(5668):300-4
Date
Apr-9-2004
Language
English
Publication Type
Article
Keywords
Algorithms
Alternative Splicing
Animals
Asthma - genetics - metabolism
Bronchi - chemistry - cytology
Chromosomes, Human, Pair 7 - genetics
Epithelial Cells - chemistry
Female
Finland
Gene Expression
Genes
Genetic Linkage
Genetic Predisposition to Disease
Genetic Variation
Genotype
Haplotypes
Humans
Hypersensitivity - genetics - metabolism
Immunoglobulin E - blood
Inflammation - genetics
Lung - metabolism
Male
Mice
Myocytes, Smooth Muscle - chemistry
Polymorphism, Single Nucleotide
Quebec
Receptors, G-Protein-Coupled - analysis - genetics
Abstract
Susceptibility to asthma depends on variation at an unknown number of genetic loci. To identify susceptibility genes on chromosome 7p, we adopted a hierarchical genotyping design, leading to the identification of a 133-kilobase risk-conferring segment containing two genes. One of these coded for an orphan G protein-coupled receptor named GPRA (G protein-coupled receptor for asthma susceptibility), which showed distinct distribution of protein isoforms between bronchial biopsies from healthy and asthmatic individuals. In three cohorts from Finland and Canada, single nucleotide polymorphism-tagged haplotypes associated with high serum immunoglobulin E or asthma. The murine ortholog of GPRA was up-regulated in a mouse model of ovalbumin-induced inflammation. Together, these data implicate GPRA in the pathogenesis of atopy and asthma.
Notes
Comment In: Science. 2004 Apr 9;304(5668):185-715073340
PubMed ID
15073379 View in PubMed
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The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects.

https://arctichealth.org/en/permalink/ahliterature172726
Source
Diabetes. 2005 Oct;54(10):3032-4
Publication Type
Article
Date
Oct-2005
Author
Ingrid Dahlman
Maria Kaaman
Hong Jiao
Juha Kere
Markku Laakso
Peter Arner
Author Affiliation
Department of Medicine, Huddinge, Karolinska Institute, Stockholm, Sweden.
Source
Diabetes. 2005 Oct;54(10):3032-4
Date
Oct-2005
Language
English
Publication Type
Article
Keywords
Alleles
Amino Acid Sequence
Animals
Apoptosis Regulatory Proteins - genetics - physiology
Basal Metabolism - genetics
Body mass index
Exons
Female
Genetic Predisposition to Disease
Humans
Male
Mice
Mice, Knockout
Obesity - genetics
Polymorphism, Genetic - genetics
Polymorphism, Single Nucleotide - genetics
Proteins - chemistry - genetics
Sequence Homology
Sweden
Tumor Necrosis Factor-alpha - genetics
Abstract
The cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) gene is implicated as an important regulator of body weight in mice and humans and is therefore a candidate gene for human obesity. Here, we characterize common CIDEA gene polymorphisms and investigate them for association with obesity in two independent Swedish samples; the first comprised 981 women and the second 582 men. Both samples display a large variation in BMI. The only detected coding polymorphism encodes an exon 4 V115F amino acid substitution, which is associated with BMI in both sexes (P = 0.021 for women, P = 0.023 for men, and P = 0.0015 for joint analysis). These results support a role for CIDEA alleles in human obesity. CIDEA-deficient mice display higher metabolic rate, and the gene cross-talks with tumor necrosis factor-alpha (TNF-alpha) in fat cells. We hypothesize that CIDEA alleles regulate human obesity through impact on basal metabolic rate and adipocyte TNF-alpha signaling.
PubMed ID
16186410 View in PubMed
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Cohort profile: the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC).

https://arctichealth.org/en/permalink/ahliterature287275
Source
BMJ Open. 2016 11 10;6(11):e013148
Publication Type
Article
Date
11-10-2016
Author
Tiina Jääskeläinen
Seppo Heinonen
Eero Kajantie
Juha Kere
Katja Kivinen
Anneli Pouta
Hannele Laivuori
Source
BMJ Open. 2016 11 10;6(11):e013148
Date
11-10-2016
Language
English
Publication Type
Article
Keywords
Adult
Case-Control Studies
Cross-Sectional Studies
Female
Finland
Gestational Age
Humans
International Cooperation
Male
Medical History Taking
Pre-Eclampsia - etiology - genetics
Pregnancy
Prospective Studies
Research Design
Socioeconomic Factors
Young Adult
Abstract
The Finnish Genetics of Pre-eclampsia Consortium (FINNPEC) Study was established to set up a nationwide clinical and DNA database on women with and without pre-eclampsia (PE), including their partners and infants, in order to identify genetic risk factors for PE.
FINNPEC is a cross-sectional case-control cohort collected from 5 university hospitals in Finland during 2008-2011. A total of 1450 patients with PE and 1065 pregnant control women without PE (aged 18-47 years) were recruited. Altogether, there were 1377 full triads (625 PE and 752 control triads).
The established cohort holds both clinical and genetic information of mother-infant-father triads representing a valuable resource for studying the pathogenesis of the disease. Furthermore, maternal biological samples (first and third trimester serum and placenta) will provide additional information for PE research. Until now, research has encompassed studies on candidate genes, Sanger and next-generation sequencing, and various studies on the placenta. FINNPEC has also participated in the InterPregGen study, which is the largest investigation on maternal and fetal genetic factors underlying PE until now.
Ongoing studies focus on elucidating the role of immunogenetic and metabolic factors in PE. Data on morbidity and mortality will be collected from mothers and fathers through links to the nationwide health registers.
Notes
Cites: Mol Hum Reprod. 2013 Jul;19(7):423-3723420841
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PubMed ID
28067621 View in PubMed
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A common beta2-adrenoceptor gene haplotype protects against obesity in Swedish women.

https://arctichealth.org/en/permalink/ahliterature171956
Source
Obes Res. 2005 Oct;13(10):1645-50
Publication Type
Article
Date
Oct-2005
Author
Hong Jiao
Ingrid Dahlman
Per Eriksson
Juha Kere
Peter Arner
Author Affiliation
Department of Biosciences at Novum, Karolinska Institutet, Stockholm, Sweden.
Source
Obes Res. 2005 Oct;13(10):1645-50
Date
Oct-2005
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
DNA Primers
Female
Haplotypes
Humans
Middle Aged
Obesity - genetics - prevention & control
Receptors, Adrenergic, beta-2 - genetics
Sweden
Abstract
The beta2-adrenoceptor gene may be of particular importance for human obesity because catecholamines have a central role in energy expenditure both as neurotransmitters and hormones. The gene is highly polymorphic, and individual polymorphisms have previously been examined for their relationship to obesity, but results are conflicting. We performed a haplotype analysis of the beta2-adrenoceptor gene in 1354 women and 421 men, all healthy and at least second generation Scandinavian and with a large interindividual variation in body fat mass. We found three common haplotypes. One of these haplotypes, identified as T, A, C, C at nucleotide positions -47, 46, 79, and 491, was in its homozygote form more common among lean (18%) than obese (13%) women (p = 0.0028), but there was no association with obesity in men (p = 0.47). Women who were homozygous for this haplotype had lower BMI (p = 0.009) and percentage body fat (p = 0.005) in comparison with those having other haplotypes or being heterozygous for TACC. The data suggest an important role of the beta2-adrenoceptor gene in obesity because a common haplotype has recessive protective effects against excess body fat, at least in women.
PubMed ID
16286511 View in PubMed
Less detail

A comprehensive analysis of the COL29A1 gene does not support a role in eczema.

https://arctichealth.org/en/permalink/ahliterature136696
Source
J Allergy Clin Immunol. 2011 May;127(5):1187-94.e7
Publication Type
Article
Date
May-2011
Author
Aline Naumann
Cilla Söderhäll
Regina Fölster-Holst
Hansjörg Baurecht
Viola Harde
Konstanze Müller-Wehling
Elke Rodríguez
Andreas Ruether
Andre Franke
Stefan Wagenpfeil
Natalija Novak
Martin Mempel
Behnam Naderi Kalali
Michael Allgaeuer
Jeanette Koch
Markus Gerhard
Erik Melén
Carl-Fredrik Wahlgren
Inger Kull
Caroline Stahl
Göran Pershagen
Roger Lauener
Josef Riedler
Gert Doekes
Annika Scheynius
Thomas Illig
Erika von Mutius
Stefan Schreiber
Juha Kere
Michael Kabesch
Stephan Weidinger
Author Affiliation
Institute for Medical Statistics and Epidemiology IMSE, Technische Universität München, Munich, Germany.
Source
J Allergy Clin Immunol. 2011 May;127(5):1187-94.e7
Date
May-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Case-Control Studies
Child
Child, Preschool
Collagen Type VI - genetics - metabolism
Cross-Sectional Studies
Eczema - genetics
Family
Female
Genetic Predisposition to Disease
Germany
Humans
Hypersensitivity, Immediate - genetics
In Situ Hybridization
Infant, Newborn
Male
Polymorphism, Single Nucleotide
Skin - metabolism
Sweden
Abstract
Based on a recent positional cloning approach, it was claimed that the collagen 29A1 gene (COL29A1), which encodes an epidermal collagen, represents a major risk gene for eczema underlying a previously reported linkage to chromosome 3q21. However, thus far, not a single replication attempt has been published, and no definitive functional data have been provided.
We aimed to determine whether COL29A1 polymorphisms contribute to eczema susceptibility and whether COL29A1 expression is altered in eczema.
We investigated the reported association of COL29A1 variants with eczema, subtypes of eczema, and eczema-related traits in 5 independent and large study populations comprehensively phenotyped for allergic diseases: a set of 1687 German patients with eczema and 2387 population control subjects, a collection of 274 German families with eczema-diseases children, a cross-sectional population of German children (n = 3099), the Swedish population-based birth cohort Children Allergy and Milieu in Stockholm, an Epidemiologic Study (BAMSE) (n = 2033), and the European cross-sectional Prevention of Allergy-Risk Factors for Sensitization Related to Farming and Anthroposophic Lifestyle (PARSIFAL) study (n = 3113). An additional set of 19 COL29A1 coding single nucleotide polymorphisms was analyzed in BAMSE and PARSIFAL. COL29A1 expression was investigated by using in situ hybridization.
We found no evidence for a relationship between COL29A1 polymorphisms and eczema. The equivalence test rejected the hypothesis of association even excluding small effects. In situ hybridization carried out on biopsy specimens from lesional and nonlesional skin of patients with eczema and from healthy control subjects did not show any differences in the cellular distribution pattern of COL29A1 expression at the mRNA level.
Our results suggest that COL29A1 is unlikely to contain genetic variants that have a major effect on eczema or atopy susceptibility.
PubMed ID
21353297 View in PubMed
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