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The -112G>A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves' disease in subsets of patients with elevated levels of immunoglobulin E.

https://arctichealth.org/en/permalink/ahliterature138513
Source
J Appl Genet. 2011 May;52(2):201-7
Publication Type
Article
Date
May-2011
Author
Dimitry A Chistiakov
Natalia V Voronova
Rust I Turakulov
Kirill V Savost'anov
Author Affiliation
Department of Molecular Diagnostics, National Research Center GosNIIgenetika, 1st Dorozhny Proezd 1, 117545, Moscow, Russia. dimitry.chistiakov@lycos.com
Source
J Appl Genet. 2011 May;52(2):201-7
Date
May-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Asthma - genetics
Case-Control Studies
Female
Genetic Association Studies
Genetic markers
Genetic Predisposition to Disease
Genotype
Graves Disease - epidemiology - genetics
Humans
Hypersensitivity - genetics
Immunoglobulin E - blood
Male
Odds Ratio
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Russia - epidemiology
Secretoglobins
Sequence Analysis, DNA
Uteroglobin - blood - genetics
Young Adult
Abstract
The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a susceptibility locus to several autoimmune and inflammatory diseases, including asthma and Graves' disease (GD). Recently, association between the marker rs1368408 (-112G?>A), located in the promoter region of the SCGB3A2 gene, and susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to evaluate whether this polymorphism confers GD susceptibility in a large population cohort comprising 1,474 Russian GD patients and 1,619 controls. The marker rs1368408 was studied using a TaqMan allele discrimination assay. Serum levels of UGRP1 and immunoglobulin E (IgE) were assessed using enzyme-linked immunosorbent assay (ELISA) analyses. Association between the allele A of SCGB3A2 and a higher risk of GD (odds ratio [OR] = 1.33, P = 2.9 × 10(-5)) was shown. Both affected and non-affected carriers of the higher risk genotype A/A had significantly decreased levels of serum UGRP1 compared to the subjects homozygous for G/G (93 ± 37 pg/ml vs. 132 ± 45 pg/ml, P = 0.0011 for GD patients; 77 ± 28 pg/ml vs. 119 ± 33 pg/ml, P = 0.0019 for controls). Serum IgE levels were significantly higher in non-affected subjects homozygous for A/A compared to control individuals homozygous for G/G (153 ± 46 IU/ml vs. 122 ± 40 IU/ml, P = 0.0095). Our data suggest that the carriage of the SCGB3A2 -112A/A variant increases the risk for GD in subsets of patients with elevated levels of IgE, a hallmark of allergic asthma. Therefore, the SCGB3A2 -112G?>A polymorphism may be considered as a likely marker linking susceptibility to allergy/asthma and GD on chromosome 5q31-33.
PubMed ID
21170691 View in PubMed
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Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders.

https://arctichealth.org/en/permalink/ahliterature199219
Source
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):700-6
Publication Type
Article
Date
Mar-2000
Author
T. Laitinen
V. Ollikainen
C. Lázaro
P. Kauppi
R. de Cid
J M Antó
X. Estivill
H. Lokki
H. Mannila
L A Laitinen
J. Kere
Author Affiliation
Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland. tarja.laitinen@helsinki.fi
Source
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):700-6
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alleles
Asthma - genetics - immunology
Chromosome Mapping
Chromosomes, Human, Pair 19
Cross-Cultural Comparison
Female
Finland
Genes, Regulator - genetics
Genetic Markers - genetics
Genetics, Population
Haplotypes
Humans
Male
Middle Aged
Phenotype
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Receptors, IgE - genetics
Respiratory Hypersensitivity - genetics - immunology
Spain
Abstract
On the basis of studies with animal models, the gene for the low-affinity receptor for immunoglobulin E (IgE) (FCER2, CD23) has been implicated as a candidate for IgE-mediated allergic diseases and bronchial hyperreactivity, or related traits. Given evidence for genetic complexity in atopic disorders, we sought to study two European subpopulations, Finnish and Catalonian. We studied three phenotypic markers: (1) total serum IgE level; (2) asthma; and (3) specific IgE level for a mixture of the most common aeroallergens in Finland. Altogether, eight polymorphic markers spanning a region of 10 cM around the FCER2 gene on chromosome 19p13 were analyzed in 124 families. The physical order of the markers and the location of the FCER2 gene were confirmed by using radiation hybrids. The allele and haplotype association study showed a suggestive haplotype association (significance of p
PubMed ID
10712310 View in PubMed
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BCG vaccination does not seem to prevent atopy in children with atopic heredity.

https://arctichealth.org/en/permalink/ahliterature33845
Source
Allergy. 1998 May;53(5):537
Publication Type
Article
Date
May-1998
Author
J S Alm
G. Lilja
G. Pershagen
A. Scheynius
Source
Allergy. 1998 May;53(5):537
Date
May-1998
Language
English
Publication Type
Article
Keywords
BCG Vaccine - therapeutic use
Humans
Hypersensitivity - genetics - prevention & control
Infant, Newborn
Sweden
Treatment Failure
Vaccination
Notes
Comment On: Allergy. 1997 Oct;52(10):1036-79360759
PubMed ID
9636815 View in PubMed
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Breastfeeding and introduction of solid foods in Swedish infants: the All Babies in Southeast Sweden study.

https://arctichealth.org/en/permalink/ahliterature58128
Source
Br J Nutr. 2005 Sep;94(3):377-82
Publication Type
Article
Date
Sep-2005
Author
Hilde K Brekke
Jonas F Ludvigsson
Jenny van Odijk
Johnny Ludvigsson
Author Affiliation
Department of Clinical Nutrition, Sahlgrenska Academy at Göteborg University, and Paediatric Department, Orebro University Hospital, Sweden. hilde.brekke@nutrition.gu.se
Source
Br J Nutr. 2005 Sep;94(3):377-82
Date
Sep-2005
Language
English
Publication Type
Article
Keywords
Animals
Breast Feeding
Chi-Square Distribution
Dietary Supplements
Eggs
Female
Fishes
Follow-Up Studies
Food Hypersensitivity - genetics - prevention & control
Gluten
Health Surveys
Humans
Infant
Male
Research Support, Non-U.S. Gov't
Sweden
Weaning
Abstract
The aim of this report is to describe breastfeeding duration and introduction of foods in Swedish infants born 1997-9, in relation to current recommendations. A secondary aim is to examine breastfeeding duration and introduction of certain allergenic foods in allergy-risk families (for whom allergy-preventive advice has been issued). Out of 21,700 invited infants, screening questionnaires were completed for 16,070 infants after delivery. Parents to 11,081 infants completed a follow-up questionnaire regarding breastfeeding and introduction of foods and 9849 handed in detailed food diaries at 1 year of age. The percentages of infants who were exclusively breast-fed at 3, 6 and >or=9 months of age were 78.4, 10.1 and 3.9, respectively. The corresponding percentages for partial breastfeeding were 87.8, 68.9 and 43.6. Gluten-containing foods were introduced to 66% of infants between 4 and 6 months, as recommended at the time of the study, and one-quarter had stopped breastfeeding when gluten was introduced. More than 90% of parents introduced the first sample of solid food during months 4-6, as recommended. Fish and eggs had been introduced during the first year in 43% and 29%, respectively, of infants with atopic heredity. Exclusive breastfeeding duration and time of introduction of solid foods, including gluten, seemed to have been in line with Swedish recommendations at the time, although gluten was often introduced late, and not during ongoing breastfeeding as recommended. The adherence to allergy-preventive advice was less than optimal in infants with atopic heredity.
PubMed ID
16176608 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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Familial association between allergic disorders and depression in adult Finnish twins.

https://arctichealth.org/en/permalink/ahliterature197919
Source
Am J Med Genet. 2000 Apr 3;96(2):146-53
Publication Type
Article
Date
Apr-3-2000
Author
M Z Wamboldt
J K Hewitt
S. Schmitz
F S Wamboldt
M. Räsänen
M. Koskenvuo
K. Romanov
J. Varjonen
J. Kaprio
Author Affiliation
National Jewish Medical and Research Center, Denver, Colorado 80206, USA.
Source
Am J Med Genet. 2000 Apr 3;96(2):146-53
Date
Apr-3-2000
Language
English
Publication Type
Article
Keywords
Adult
Depression - genetics
Diseases in Twins - genetics
Female
Finland
Humans
Hypersensitivity - genetics
Linkage Disequilibrium - genetics
Male
Middle Aged
Models, Genetic
Severity of Illness Index
Twins, Dizygotic - genetics
Twins, Monozygotic - genetics
Abstract
Clinical studies have shown a relationship between allergic disorders and depression, panic disorder, attention deficit/hyperactivity disorder, and social anxiety for a significant subset of patients with these disorders. The nature of the relationship, whether due to shared environmental or biologic vulnerabilities or as a result of the stress of chronic illness, has been less clear. By examining the covariance of atopic disorders and depressive symptoms in a community sample of monozygotic (MZ) and dizygotic (DZ) twins, the contribution of genetic and/or shared environmental etiological factors can be established. A Finnish sample of 1337 MZ and 2506 DZ twin pairs, ages 33-60 years, was sent questionnaires inquiring about history of asthma, eczema, and atopic rhinitis, as well as the Beck Depression Inventory (BDI). The nature of the covariation between twins of these symptoms was investigated by fitting competing genetic and environmental models. Within-person correlation between atopic symptoms and BDI was 0.103 (P
PubMed ID
10893486 View in PubMed
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Family based association analysis of the IL2 and IL15 genes in allergic disorders.

https://arctichealth.org/en/permalink/ahliterature83041
Source
Eur J Hum Genet. 2006 Feb;14(2):227-35
Publication Type
Article
Date
Feb-2006
Author
Christensen Ulla
Haagerup Annette
Binderup Helle G
Vestbo Jørgen
Kruse Torben A
Børglum Anders D
Author Affiliation
Institute of Human Genetics, The Bartholin Building, University of Aarhus, Aarhus C, Denmark.
Source
Eur J Hum Genet. 2006 Feb;14(2):227-35
Date
Feb-2006
Language
English
Publication Type
Article
Keywords
DNA Primers
Denmark
Family
Gene Frequency
Genotype
Haplotypes - genetics
Humans
Hypersensitivity - genetics
Interleukin-15 - genetics
Interleukin-2 - genetics
Linkage Disequilibrium
Polymorphism, Single Nucleotide - genetics
Sequence Analysis, DNA
Abstract
Allergic diseases affect an increasing number of individuals and are a major global health problem. A substantial genetic contribution in the aetiology of allergic diseases is well documented. We have previously reported linkage of allergic diseases and atopy to the region harbouring the IL2 gene (4q27). IL15 is located approximately 20 Mb distal to IL2. The two genes encode cytokines that are structurally and functionally related, both inducing T-cell activation and proliferation. We screened the two genes for sequence variation and applied the seven single-nucleotide polymorphisms (SNPs) identified in a family based association study of two Danish samples comprising a total of 235 families with allergic diseases. None of the IL15 SNPs showed significant association and the haplotype analysis yielded inconsistent results in the two samples. In contrast, the two IL2 SNPs showed association both separately and in haplotypes with several atopic phenotypes, most significantly with IgE-mediated allergy. (single SNP P-value 0.0005 for positive skin prick test, haplotype P-value 0.019 for positive RAST test). To our knowledge, this is the first study reporting association between IL2 and IgE-mediated allergy, asthma and atopic eczema. The SNP (rs2069762) that showed the most consistent results is located in the promoter and has previously been shown to influence the level of IL2 expression. We suggest that the observed overtransmission of the T allele of this SNP may convey increased susceptibility to allergic disease by skewing the Th1/Th2 balance towards Th2.
PubMed ID
16333313 View in PubMed
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Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians.

https://arctichealth.org/en/permalink/ahliterature97808
Source
Clin Exp Allergy. 2010 Jan;40(1):123-30
Publication Type
Article
Date
Jan-2010
Author
Linneberg A
Gonzalez-Quintela A
Vidal C
Jørgensen T
Fenger M
Hansen T
Pedersen O
Husemoen LLN
Author Affiliation
Research Centre for Prevention and Health, The Capital Region of Denmark, Glostrup University Hospital, Glostrup, Denmark. alli@glo.regionh.dk
Source
Clin Exp Allergy. 2010 Jan;40(1):123-30
Date
Jan-2010
Language
English
Publication Type
Article
Keywords
Acetaldehyde - metabolism
Adolescent
Adult
Aged
Alcoholic Beverages - adverse effects
Alcoholism - enzymology
Aldehyde Dehydrogenase - genetics
Alleles
Denmark
Drug Hypersensitivity - genetics
Ethanol - adverse effects - metabolism - pharmacology
European Continental Ancestry Group
Genetic Predisposition to Disease
Genotype
Humans
Middle Aged
Abstract
BACKGROUND: Although hypersensitivity reactions following intake of alcoholic drinks are common in Caucasians, the underlying mechanisms and clinical significance are not known. In contrast, in Asians, alcohol-induced asthma and flushing have been shown to be because of a single nucleotide polymorphism (SNP), the acetaldehyde dehydrogenase 2 (ALDH2) 487lys, causing decreased acetaldehyde (the metabolite of ethanol) metabolism and high levels of histamine. However, the ALDH2 487lys is absent in Caucasians. OBJECTIVES: To investigate the genetic determinants of self-reported alcohol-induced hypersensitivity reactions in Caucasians. METHODS: The study included two population-based studies of 1216 and 6784 adults living in Copenhagen. Assessment of alcohol consumption and hypersensitivity reactions (in a subgroup) was performed by a questionnaire and was related to common SNPs of genes encoding alcohol dehydrogenases (ADHs) and ALDHs. RESULTS: In both populations, alcohol drinkers with a genetically determined fast metabolism of ethanol (the A allele of the ADH1b rs1229984) had an increased risk of alcohol-induced hypersensitivity reactions (odds ratio AA/AG vs. GG in combined populations: 1.82, 95% CI 1.04-3.17). In both populations, a common SNP encoding ALDH1b1 (rs2228093) was found to be significantly associated with alcohol-induced hypersensitivity (odds ratio TT vs. CC in combined populations: 2.53, 95% CI 1.31-4.90). CONCLUSIONS: Our data support that alcohol sensitivity in Caucasians is genetically determined and suggest that a histamine-releasing effect of acetaldehyde represents a plausible biological mechanism. Furthermore, we present the first report of a clinically significant SNP within the acetaldehyde-metabolizing system in a Caucasian population.
PubMed ID
20205700 View in PubMed
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Genetic polymorphisms of tumour necrosis factor receptor superfamily 1b and fas ligand are associated with clinical efficacy and/or acute severe infusion reactions to infliximab in Crohn's disease.

https://arctichealth.org/en/permalink/ahliterature121958
Source
Aliment Pharmacol Ther. 2012 Oct;36(7):650-9
Publication Type
Article
Date
Oct-2012
Author
C. Steenholdt
C. Enevold
M A Ainsworth
J. Brynskov
O Ã? Thomsen
K. Bendtzen
Author Affiliation
Department of Gastroenterology, Herlev Hospital, Denmark. steenholdt@brygge.dk
Source
Aliment Pharmacol Ther. 2012 Oct;36(7):650-9
Date
Oct-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Antibodies, Monoclonal - adverse effects - therapeutic use
Antigens, CD95 - genetics
Cohort Studies
Crohn Disease - drug therapy - genetics
Denmark
Drug Hypersensitivity - genetics
European Continental Ancestry Group
Fas Ligand Protein - genetics
Female
Gastrointestinal Agents - adverse effects - therapeutic use
Genetic Predisposition to Disease
Humans
Male
Polymorphism, Single Nucleotide
Receptors, Tumor Necrosis Factor, Type I - genetics
Receptors, Tumor Necrosis Factor, Type II - genetics
Retrospective Studies
Treatment Outcome
Tumor Necrosis Factor-alpha
Young Adult
Abstract
Single nucleotide polymorphisms (SNPs) in TNF receptor superfamily (TNFRSF) 1A and 1B, and Fas ligand (FASLG) genes, have been associated with responsiveness to infliximab (IFX) in Crohn's disease.
To investigate if SNPs in TNFRSF1A and 1B, and FAS (TNFRSF6) and FASLG (TNFSF6), associated with short- or long-term clinical and biological efficacy and with acute severe infusion reactions.
Observational, retrospective and explorative cohort study of IFX-treated Caucasian patients with Crohn's disease classified as primary nonresponders (n = 21), response failures on maintenance therapy (n = 37), maintained remission (n = 47) and occurrence of acute severe infusion reactions (n = 20).
During IFX maintenance therapy, minor allele carriage of TNFRSF1B, rs976881 is associated with loss of response [OR 3.3 (1.2-9.1), P = 0.014]. Minor allele homozygosity increased the risk substantially (OR estimated 19, P = 0.006), and furthermore associated with a mean CRP increase of 17 mg/L as compared to a mean decrease of 17 mg/L in all others (P = 0.036). In contrast, minor allele carriage of TNFRSF1B, rs1061622 is associated with beneficial response to IFX induction [OR 4.2 (1.2-18.2), P = 0.014], and with persistence of remission during maintenance therapy [OR 5.5 (1.5-25.5), P = 0.007]. Carriage of the minor allele of FASLG, rs76110 increased risk of severe infusion reactions [OR 4.0 (1.1-22.4), P = 0.041]; minor allele carriage of TNFRSF1B, rs652625 decreased the risk (OR estimated 0.2, P = 0.043 ).
The TNFRSF1B polymorphisms may contribute to predict efficacy of infliximab. Moreover, FASLG and TNFRSF1B polymorphisms may confer genetic susceptibility to severe infusion reactions. These findings could potentially aid clinical decisions if confirmed in larger studies.
PubMed ID
22860894 View in PubMed
Less detail

Genetics. Two new asthma genes uncovered.

https://arctichealth.org/en/permalink/ahliterature180652
Source
Science. 2004 Apr 9;304(5668):185-7
Publication Type
Article
Date
Apr-9-2004
Author
Jennifer Couzin
Source
Science. 2004 Apr 9;304(5668):185-7
Date
Apr-9-2004
Language
English
Publication Type
Article
Keywords
Asthma - genetics
Chromosomes, Human, Pair 7 - genetics
Finland
Genetic Predisposition to Disease
Haplotypes
Humans
Hypersensitivity - genetics
Quebec
Receptors, G-Protein-Coupled - analysis - genetics
Notes
Comment On: Science. 2004 Apr 9;304(5668):300-415073379
PubMed ID
15073340 View in PubMed
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23 records – page 1 of 3.