No abstract

Atopy as defined in terms of IgE responsiveness was reported to be controlled by a single gene in British families, and this concept was further supported by a significant linkage between atopy and restriction fragment length polymorphism (RFLP) detected by a DNA probe specific to chromosome 11q13. To confirm this observation in a Japanese population, segregation and linkage analyses were done in four large families. Although segregation patterns of atopy were in agreement with the pattern of autosomal dominant inheritance, there was no significant linkage between atopy and locus 11q13. Alterations in the definitions of atopy did not affect the results. These findings suggested the presence of heterogeneity in genetic elements of atopy, even though atopy may be determined mainly by a single dominant gene.

Although the prevalence of serum precipitating antibodies for farmer's lung disease (FLD) is lower in smokers than in nonsmokersand FLDpredominates in nonsmokers, the affects of smoking on the clinical course of the disease is not known.Wecomparedthe clinical findings and the prognosis between 12 smokers (SM-FLD)and 31 non-smokers with FLD(NS-FLD). There was no difference in age, sex, working years on farm, clinical symptoms, laboratory findings, radiographic findings, between the two groups. However, for the type of onset on the first visit for FLD, "acute single episode" type was less common,and "recurrent" and "insidious onset" types were more common in SM-FLD than in NS-FLD (8.3 vs 58.1, 91.7 vs 41.9%, respectively, p<0.05). Although working status and mask wearing status were not significantly different between the two groups after the diagnosis of FLD, patients with symptoms and/or radiographic abnormalities of FLD of more than 6 months were found more frequently in SM-FLD than in NS-FLD (66.7 vs 19.4%, p<0.005). And also SM-FLDhad more recurrences of FLD than NS-FLD after the initial diagnosis ofFLD (1.58±1.56 vs 0.47±1.07, p<0.05). SM-FLDtended to have lower %VCthan NS-FLD (73.6±7.4 vs 88.5±3.9%, respectively, p=0.06). Regarding the prognosis, the 10-year survival rates were 70.7% in SM-FLD, and 91.5% in NS-FLD(p<0.05). These results suggest that smoking may make FLDinsidious and chronic, and deteriorates the clinical outcome. (Internal Medicine 34: 966-971, 1995)

Background: The mineralocorticoid receptor (MR) is expressed in the kidneys and in adipose tissue, and

Results -A two allele polymorphism (2-3 kb and 2-1 kb) of the P2ADR gene was detected in the Japanese population. Family members without allele 2-3 kb (homozygote of allele 2l pkb) had lower airways responses to inhaled salbutamol than those with allele 2-3 kb. The incidence of asthma was higher in those without allele 2-3 kb than in those with allele 2 3 kb. The P2ADR gene RFLP had no relation to airways responses to methacholine and atopic status. cAMP responses in peripheral mononuclear cells of the subjects without allele 2-3kb tended to be lower than those ofthe subjects with allele 2*3 kb. This locus is close to the locus called "5q cluster" in which the genes for IL-3, IL-4, IL-5, and granulocyte-macrophage colony stimulating factor (GM-CSF) are located. In addition, DNA polymorphism of the P2ADR with Ban-I digestion has been examined and a two allele polymorphism has been reported in 20 unrelated white people in North America.'2 ConclusionsWe have therefore examined the 12ADR gene restriction fragment length polymorphism (RFLP) in a Japanese population of 58 family members of four atopic asthmatic patients and investigated the relation to atopic state, nonspecific bronchial hyperresponsiveness to methacholine, airways responses to a 12 agonist, and the incidence of physician diagnosed asthma. Methods SUBJECT SELECTIONA total of 58 subjects, family members of four patients with bronchial asthma, were examined. They comprised three generations with 17, 12, 13, and 16 subjects from each family. The