Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Neigung zu nächtlichem Asthma

Die genetisch bedingte Neigung zu nächtlichem Asthma wird durch Mutationen im ADRB2-Gen bestimmt. Die Vererbung folgt dem dominanten Model.

Gliederung

Erbliche Bronchial- und Lungenerkrankungen
Bronchiektasien mit und ohne erhöhtem Chlorid im Schweiß
Cystinose
Hereditäre pulmonale Embolie
Morbus Fabry
Neigung zu nächtlichem Asthma
ADRB2
Pulmonale alveoläre Mikrolithiasis
Vermindertes Ansprechen auf beta-2-Mimetika

Referenzen:

1.

Gavett SH et. al. (1995) Interleukin 12 inhibits antigen-induced airway hyperresponsiveness, inflammation, and Th2 cytokine expression in mice.

[^]
2.

None (1997) A genome-wide search for asthma susceptibility loci in ethnically diverse populations. The Collaborative Study on the Genetics of Asthma (CSGA).

[^]
3.

Ober C et. al. (1998) Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma.

[^]
4.

Wjst M et. al. (1999) A genome-wide search for linkage to asthma. German Asthma Genetics Group.

[^]
5.

Karp CL et. al. (2000) Identification of complement factor 5 as a susceptibility locus for experimental allergic asthma.

[^]
6.

Lympany P et. al. (1992) Genetic analysis using DNA polymorphism of the linkage between chromosome 11q13 and atopy and bronchial hyperresponsiveness to methacholine.

[^]
7.

Amelung PJ et. al. (1992) Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p.

[^]
8.

Levitt RC et. al. (1989) Autosomal recessive inheritance of airway hyperreactivity to 5-hydroxytryptamine.

[^]
9.

Levitt RC et. al. (1988) Expression of airway hyperreactivity to acetylcholine as a simple autosomal recessive trait in mice.

[^]
10.

Longo G et. al. (1987) Genetic factors in nonspecific bronchial hyperreactivity. An epidemiologic study.

[^]
11.

Townley RG et. al. (1986) Segregation analysis of bronchial response to methacholine inhalation challenge in families with and without asthma.

[^]
12.

Hirshman CA et. al. (1984) Airway responses in offspring of dogs with and without airway hyperreactivity.

[^]
13.

De Sanctis GT et. al. (1995) Quantitative locus analysis of airway hyperresponsiveness in A/J and C57BL/6J mice.

[^]
14.

Postma DS et. al. (1995) Genetic susceptibility to asthma--bronchial hyperresponsiveness coinherited with a major gene for atopy.

[^]
15.

Marsh DG et. al. (1994) Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations.

[^]
16.

None (1997) Asthma genetics: waiting to exhale.

[^]
17.

Gleich GJ et. al. (1997) Bronchial asthma: lessons from murine models.

[^]
18.

Nicolaides NC et. al. (1997) Interleukin 9: a candidate gene for asthma.

[^]
19.

Noguchi E et. al. (1997) Evidence for linkage between asthma/atopy in childhood and chromosome 5q31-q33 in a Japanese population.

[^]
20.

Holroyd KJ et. al. (1998) Asthma and bronchial hyperresponsiveness linked to the XY long arm pseudoautosomal region.

[^]
21.

Wilkinson J et. al. (1998) Linkage of asthma to markers on chromosome 12 in a sample of 240 families using quantitative phenotype scores.

[^]
22.

Symula DJ et. al. (1999) Functional screening of an asthma QTL in YAC transgenic mice.

[^]
23.

Heinzmann A et. al. (2000) Genetic variants of IL-13 signalling and human asthma and atopy.

[^]
24.

Matsuoka T et. al. (2000) Prostaglandin D2 as a mediator of allergic asthma.

[^]
25.

Kruse S et. al. (2000) The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.

[^]
26.

Yokouchi Y et. al. (2000) Significant evidence for linkage of mite-sensitive childhood asthma to chromosome 5q31-q33 near the interleukin 12 B locus by a genome-wide search in Japanese families.

[^]
27.

Humbles AA et. al. (2000) A role for the C3a anaphylatoxin receptor in the effector phase of asthma.

[^]
28.

Lonjou C et. al. (2000) A first trial of retrospective collaboration for positional cloning in complex inheritance: assay of the cytokine region on chromosome 5 by the consortium on asthma genetics (COAG).

[^]
29.

Ober C et. al. (2000) A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.

[^]
30.

Palmer LJ et. al. (2000) Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families.

[^]
31.

Christodoulopoulos P et. al. (2001) TH2 cytokine-associated transcription factors in atopic and nonatopic asthma: evidence for differential signal transducer and activator of transcription 6 expression.

[^]
32.

Laitinen T et. al. (2001) A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population.

[^]
33.

Xu J et. al. (2001) Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma.

[^]
34.

Moffatt MF et. al. (2001) Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample.

[^]
35.

Kirkbride HJ et. al. (2001) Genetic polymorphism of MUC7: allele frequencies and association with asthma.

[^]
36.

Howard TD et. al. (2001) Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population.

[^]
37.

Xu X et. al. (2001) A genomewide search for quantitative-trait loci underlying asthma.

[^]
38.

Howard TD et. al. (2002) Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma.

[^]
39.

McIntire JJ et. al. (2001) Identification of Tapr (an airway hyperreactivity regulatory locus) and the linked Tim gene family.

[^]
40.

Dizier MH et. al. (2001) Indication of linkage and genetic heterogeneity of asthma according to age at onset on chromosome 7q in 107 French EGEA families.

[^]
41.

Niimi T et. al. (2002) A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.

[^]
42.

Witte JS et. al. (2002) Relation between tumour necrosis factor polymorphism TNFalpha-308 and risk of asthma.

[^]
43.

Duetsch G et. al. (2002) STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study.

[^]
44.

Leaves NI et. al. (2002) A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus.

[^]
45.

Anderson GG et. al. (2002) Positive association to IgE levels and a physical map of the 13q14 atopy locus.

[^]
46.

Yu C et. al. (2002) Targeted deletion of a high-affinity GATA-binding site in the GATA-1 promoter leads to selective loss of the eosinophil lineage in vivo.

[^]
47.

Illig T et. al. (2002) Genetics of asthma and related phenotypes.

[^]
48.

Van Eerdewegh P et. al. (2002) Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness.

[^]
49.

Hakonarson H et. al. (2002) A major susceptibility gene for asthma maps to chromosome 14q24.

[^]
50.

Morahan G et. al. (2002) Association of IL12B promoter polymorphism with severity of atopic and non-atopic asthma in children.

[^]
51.

Huang SK et. al. (2003) Evidence for asthma susceptibility genes on chromosome 11 in an African-American population.

[^]
52.

Akbari O et. al. (2003) Essential role of NKT cells producing IL-4 and IL-13 in the development of allergen-induced airway hyperreactivity.

[^]
53.

Kwak YG et. al. (2003) Involvement of PTEN in airway hyperresponsiveness and inflammation in bronchial asthma.

[^]
54.

Zhang Y et. al. (2003) Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.

[^]
55.

Shin HD et. al. (2003) Association of Eotaxin gene family with asthma and serum total IgE.

[^]
56.

Raby BA et. al. (2003) Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.

[^]
57.

Shin HD et. al. (2004) Association of tumor necrosis factor polymorphisms with asthma and serum total IgE.

[^]
58.

Gao PS et. al. (2004) Variation in dinucleotide (GT) repeat sequence in the first exon of the STAT6 gene is associated with atopic asthma and differentially regulates the promoter activity in vitro.

[^]
59.

Randolph AG et. al. (2004) The IL12B gene is associated with asthma.

[^]
60.

Huang JL et. al. (2004) Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability.

[^]
61.

Lee JJ et. al. (2004) Defining a link with asthma in mice congenitally deficient in eosinophils.

[^]
62.

Humbles AA et. al. (2004) A critical role for eosinophils in allergic airways remodeling.

[^]
63.

Nicolae D et. al. (2005) Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.

[^]
64.

Hao K et. al. (2005) Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.

[^]
65.

Hysi P et. al. (2005) NOD1 variation, immunoglobulin E and asthma.

[^]
66.

Hoffjan S et. al. (2005) Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[^]
67.

Que LG et. al. (2005) Protection from experimental asthma by an endogenous bronchodilator.

[^]
68.

Hallstrand TS et. al. (2005) Genetic pleiotropy between asthma and obesity in a community-based sample of twins.

[^]
69.

Millstein J et. al. (2006) A testing framework for identifying susceptibility genes in the presence of epistasis.

[^]
70.

Pillai SG et. al. (2006) A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

[^]
71.

Rousseau K et. al. (2006) MUC7 haplotype analysis: results from a longitudinal birth cohort support protective effect of the MUC7*5 allele on respiratory function.

[^]
72.

Shum BO et. al. (2006) The adipocyte fatty acid-binding protein aP2 is required in allergic airway inflammation.

[^]
73.

Aoki T et. al. (2006) An association between asthma and TNF-308G/A polymorphism: meta-analysis.

[^]
74.

Celedón JC et. al. (2007) Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa Rica.

[^]
75.

Levy BD et. al. (2007) Protectin D1 is generated in asthma and dampens airway inflammation and hyperresponsiveness.

[^]
76.

Batra J et. al. (2007) A hexanucleotide repeat upstream of eotaxin gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels.

[^]
77.

Balaci L et. al. (2007) IRAK-M is involved in the pathogenesis of early-onset persistent asthma.

[^]
78.

Xiang YY et. al. (2007) A GABAergic system in airway epithelium is essential for mucus overproduction in asthma.

[^]
79.

Seibold MA et. al. (2008) An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.

[^]
80.

Murphy A et. al. (2009) PRKCA: a positional candidate gene for body mass index and asthma.

[^]
81.

Sleiman PM et. al. (2010) Variants of DENND1B associated with asthma in children.

[^]
82.

Moffatt MF et. al. (2010) A large-scale, consortium-based genomewide association study of asthma.

[^]
83.

Palmer LJ et. al. (2001) Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region.

[^]