Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13.

Young, R. P.; Sharp, P. A.; Lynch, Jodi; Faux, J. A.; Lathrop, G.M.; Cookson, William; Hopkin, J. M.

doi:10.1136/jmg.29.4.236

Cited by 150 publications

(73 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is important to note that the human CC16 gene maps to an important genetic region (11q12-13), which has been linked to asthma and its related phenotypes in studies carried out in various populations (Blumenthal et al 2004;Huang et al 2003;Simon Thomas et al 2000;Young et al 1992). In addition to CC16, several other important candidate genes for asthma, such as Fce RIb, CD20, and Glutathione S-transferase pi (GSTP1) are also localized in this region (Mansur et al 2002).…”

Section: Discussionmentioning

confidence: 99%

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population

Sharma

Ghosh

2004

J Hum Genet

View full text Add to dashboard Cite

The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an antiinflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the association of an SNP (A38G) and an intragenic repeat polymorphism in the CC16 gene with asthma and its associated traits, such as total serum IgE levels, in a case control as well as in a family based study design. A significant association was observed for the microsatellite repeat at the level of alleles and genotypes with asthma (P<0.05) in both the study designs. However, no association was observed for the A38G SNP with asthma. When haplotypes were constructed for these two loci and compared, the haplotype A_18 was found at higher frequency in patients (OR=1.59, 95%CI=1.08, 2.33, P=0.016). Also, in the family based design, a biased transmission was observed for haplotypes from parents to affected offspring (P=0.003). Individually, haplotype A_18 showed preferential transmission (82.6%) to affected offspring (P=0.001), thereby confirming the case-control results. In summary, this is the first study identifying the CC16 gene to be associated with asthma in the Indian population.

show abstract

Section: Discussionmentioning

confidence: 99%

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population

Sharma

Ghosh

2004

J Hum Genet

View full text Add to dashboard Cite

show abstract

“…However, it is frequently difficult to identify late-phase reactions because of their characteristic gradual onset and recovery. In models of asthma associated with low molecular weight chemicals, detection of these responses is particularly important since this is the most prevalent type of response to LMW chemicals [6]. The guinea-pig model depicted in figure 2 has been able to demonstrate late-onset reactions.…”

Section: Guinea-pig Modelsmentioning

confidence: 99%

“…Familial studies have provided evidence for a genetic component in development of allergy. Inheritance of atopy appears to be dominant and associated with a specific gene on the short arm of chromosome 11 [6]. Linkage is expressed predominantly through the mother; genes derived from the father appear not to be expressed.…”

mentioning

confidence: 98%

Animal models of occupational asthma

Mh¹

1994

Eur Respir J

122

View full text Add to dashboard Cite

A An ni im ma al l m mo od de el ls s o of f o oc cc cu up pa at ti io on na al l a as st th hm ma a M.H. KarolAnimal models of occupational asthma. M.H. Karol. ERS Journals Ltd 1994. ABSTRACT: Occupational asthma is characterized by variable airflow obstruction occurring in the workplace. The presence of airways inflammation and hyperreactivity provides further evidence for the disease. Since its pathogenic mechanism(s) are unknown, animal models have been developed to investigate the various disease processes, as well as to enable study of environmental and genetic factors which may contribute to disease development.Numerous parameters can be measured in animal systems, including specific and total immunoglobulin E (IgE), pulmonary eosinophilia, diaphragm contractions and airflow muscle hypertrophy. It is recognized that no single factor is sufficient to lead to a conclusion of occupational asthma, but rather that a selected combination of parameters is most fitting. Animal species selected for study have included: mice, rats, guinea-pigs, rabbits, sheep, horses and nonhuman primates. A guinea-pig system has been utilized for more than 90 yrs and has contributed to the basic understanding of physiological and immunological processes involved in allergic respiratory sensitization. The benefits as well as the disadvantages to be derived from each of the animal systems have been enumerated in this review.Certain caveats must be recognized in using animal systems. Attention must always be given to identifying differences which exist between animal and human systems, including morphological, physiological and immunological factors. The extent of bronchus-associated lymphoid tissue (BALT) differs greatly among animal species and probably plays a major role in development of allergic responsiveness in animals. In using animal systems, it must be appreciated that animals are only surrogates. Results from such studies must be compared with information obtained from clinical evaluation in order to avoid faulty extrapolations. Prudent employment of animal models is expected to advance the recognition, treatment and prevention of occupationally-based asthma.

show abstract

“…The genetic composition of human chromosome 11q13 includes several disease loci, including those for McArdles's disease [caused by mutations in muscle glycogen phosphorylase (PYGM; Bartrum et al 1993)], pyruvate carboxylase deficiency [with mutations in pyruvate carboxylase (PC; Freytag and Collier 1984)], parathyroid adenomatatosis 1 and centrocytic lymphoma [with translocations of cyclin D1 (CCND1; Motokura et al 1991)], atopy [IgE responsiveness (FCER1B;Young et al 1992)], and multiple endocrine neoplasia type 1 (MEN1; Chandrasekharappa et al 1997). Several proto-oncogenes such as fos-related antigen 1 (FRA1; Sinke et al 1993) and the homolog of the avian S13 virus [sarcoma, erythroblastosis, and anemia (SEA;Williams et al 1988)] map to this region.…”

mentioning

confidence: 99%

A 3-Mb Contig from D11S987 to MLK3, a Gene-Rich Region in 11q13: Figure 1.

Smith¹,

Nancy²,

Nowak³

et al. 1997

Genome Res.

View full text Add to dashboard Cite

We have combined genetic, radiation-reduced somatic cell hybrid (RRH), fluorescent in situ hybridization (FISH), and physical mapping methods to generate a contig of overlapping YAC, PAC, and cosmid clones corresponding to >3 continuous Mb in 11q13. A total of 15 STSs [7 genes (GSTP1, ACTN, PC, MLK3, FRA1, SEA, HNP36), 4 polymorphic loci (D11S807, D11S987, GSTP1, D11S913), 3 ESTs (D11S1956E, D11S951E, and WI-12191), and 1 anonymous STS (D11S703)], mapping to three independent RRH segregation groups, identified 26 YAC, 7 PAC, and 16 cosmid clones from the CGM, Roswell Park, CEPH Mark I, and CEPH MegaYAC YAC libraries, a 5 genome equivalent PAC library, and a chromosome 11-specific cosmid library. Thirty-six Alu-PCR products derived from 10 anonymous bacteriophage clones, a cosmid containing the polymorphic marker D11S460, or STS-positive YAC or cosmid clones were identified and used to screen selected libraries by hybridization, resulting in the identification of 19 additional clones. The integrity and relative position of a subset of clones was confirmed by FISH and were found to be consistent with the physical and RRH mapping results. The combination of STS and Alu-PCR-based approaches has proven to be successful in attaining contiguous cloned coverage in this very GC-rich region, thereby establishing for the first time the absolute order and distance between the markers:

show abstract

Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13.

Cited by 150 publications

References 15 publications

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population

Animal models of occupational asthma

A 3-Mb Contig from D11S987 to MLK3, a Gene-Rich Region in 11q13: Figure 1.

Contact Info

Product

Resources

About