Association between genetic variants of mast-cell chymase and eczema

Mao, Xiao-Quan; Shirakawa, Taro; Yoshikawa, Tsutomu; Yoshikawa, Katsunori; Kawai, Mitsuru; Sasaki, Sei; Enomoto, Tadao; Hashimoto, Tomoko; Furuyama, Jun-ichi; Hopkin, J. M.; Morimoto, K.

doi:10.1016/s0140-6736(95)10244-2

Cited by 142 publications

(87 citation statements)

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“…For the association study, 184 controls and 115 patients were genotyped. One hundred control subjects were selected in the Osaka area, Japan, as previously described (Heinzmann et al 2000b;Mao et al 1996), and 84 controls were selected from adult staff and student volunteers from Tohoku University School of Medicine in Sendai, Japan. Individuals with a history of treatment for asthma or eczema were excluded from controls.…”

Section: Families and Individualsmentioning

confidence: 99%

Linkage and association of childhood asthma with the chromosome 12 genes

et al. 2004

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Several studies have shown linkage of chromosome region 12q13-24 to bronchial asthma and related phenotypes in ethnically diverse populations. In the Japanese population, a genome-wide study failed to show strong evidence of linkage of this region. Chromosome 12 genes that showed association with the disease in at least one report include: the signal transducer and activator of transcription 6 gene (STAT6), the nitrogen oxide synthetase 1 gene (NOS1), the interferon c gene (IFNG), and the activation-induced cytidine deaminase gene (AICDA). To evaluate the linkage between chromosome 12 and childhood asthma in the Japanese population, we performed sib-pair linkage analysis on childhood asthma families using 18 microsatellite markers on chromosome 12. To investigate association between chromosome 12 candidate genes and asthma, distributions of alleles and genotypes of repeat polymorphisms of STAT6, NOS1, and IFNG were compared between controls and patients. Single nucleotide polymorphism of AICDA was also investigated. Chromosome region 12q24.23-q24.33 showed suggestive linkage to asthma. The NOS1 intron 2 GT repeat and STAT6 exon 1 GT repeat were associated with asthma. Neither the IFNG intron 1 CA repeat nor 465C/T of AICDA showed any association with asthma. Our results suggest that NOS1 and STAT6 are asthmasusceptibility genes and that chromosome region 12q24.23-q24.33 contains other susceptibility gene(s).

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Section: Families and Individualsmentioning

confidence: 99%

Linkage and association of childhood asthma with the chromosome 12 genes

et al. 2004

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“…It is expected that in addition to genes responsible for the abnormalities shared by all atopy patients, other genes must be related to the particular organ expression of atopy in a given patient. Interestingly, atopic dermatitis patients were found to have a polymorphism in the gene coding for mast cell chymase, a gene only expressed in cutaneous mast cells (4). Other genes implicated thus far in the genetics of atopy include those responsible for alternative forms of the b chain of the high affinity receptor for IgE (FceRIb) (5), where RsaI polymorphisms were found to be highly associated with atopic dermatitis but also with asthma (6).…”

Section: Pathogenesis Of Atopic Dermatitismentioning

confidence: 99%

The millennium criteria for the diagnosis of atopic dermatitis

Bos

Leent

Smitt

1998

Experimental Dermatology

122

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Atopic dermatitis forms an active area of basic and clinicalThe Netherlands research, where important new knowledge about genetics and immunopathogenesis has surfaced over the past years, and where simultaneous development of new and innovative therapies is under way. However, the inclusion of any patient in an atopic dermatitis study, whether it is on its genetics, pathogenesis or therapy, requires a diagnosis which is irrefutable. Since there is no simple and also no complicated laboratory procedure to reach a diagnosis of atopic dermatitis, different sets of clinical criteria have been developed for the purpose of making the diagnosis uniformly in different studies as well as in different study centers. The most commonly used are Hanifin and Rajka's set of diagnostic features, which have major and minor clinical criteria to be fulfilled in order to establish a diagnosis of atopic dermatitis. Recent developments in the immunology of atopy have clearly established the major abnormality in this syndrome, the preferential production of allergen-specific IgE. In this contribution, it is suggested that the presence of such antibodies in a given patient should be a mandatory criterium for the diagnosis of atopic dermatitis. Such a diagnostic test however establishes a diagnosis of atopic syndrome, not atopic dermatitis. Thus, for atopic dermatitis we have to rely, for the time being, on additional clinical criteria. The clinical features described in the literature are critically evaluated, and it is suggested that in addition to the mandatory presence of allergen-specific IgE, 2 of 3 principal criteria (pruritus, typical morphology and distribution, chronic or chronically relapsing) should be present for such a diagnosis. conclusive. For study purposes, we suggest that the mandatory and princiemail: j.d.bos/amc.uva.nl pal criteria are sufficient. They are now evaluated and validated in ongoing atopic dermatitis treatment studies.

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“…Since these particles are efficient acceptors of cholesterol from the cell surface, their depletion by mast cells may block the initiation of reverse cholesterol transport in vivo and thereby favor foam cell formation in the arterial intima, the site of atherogenesis. Although the direct effect of G3255A polymorphism in the 5 flanking region of MCC on transcriptional regulation is uncertain (27), it is a feasible hypothesis that subjects with the A3255 allele have a higher potential for reverse choles- (28). In addition, a recent paper revealed that subjects with the ACE/DD genotype had a greater reduction in total cholesterol, LDL-C and apo B in response to fluvastatin therapy than did those with the ID and II genotypes (29), suggesting the possibility of genetic involvement of MCC in the lipid profiles for coronary heart disease.…”

Section: Discussionmentioning

confidence: 99%