Lack of linkage between chromosome 5q23–33 markers and IgE/bronchial hyperreactivity in 67 Scottish families

Mansur, Adel; Christie, G. L.; Turner, Angela; Bishop, D. Timothy; Markham, Alexander F.; Helms, Peter Joseph Benedict; Morrison, Janet

doi:10.1046/j.1365-2222.2000.00855.x

Cited by 7 publications

(5 citation statements)

References 30 publications

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“…Similarly, the amounts of IL‐9 secreted by ex vivo stimulated T cells correlated with serum IgE in atopic infants . In agreement with a functional link to IgE production, some but not all studies have found an association of IL9 SNPs with serum IgE . Ongoing studies will hopefully define additional correlations of Th9 function with human physiology.…”

Section: What Can Th9 Cells Do?mentioning

confidence: 73%

Th9 cells: differentiation and disease

Kaplan

2013

Immunological Reviews

262

203

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Summary CD4+ T-helper cells regulate immunity and inflammation through the acquisition of potential to secrete specific cytokines. The acquisition of cytokine-secreting potential, in a process termed T-helper cell differentiation, is a response to multiple environmental signals including the cytokine milieu. The most recently defined subset of T-helper cells are termed Th9 and are identified by the potent production of interleukin-9 (IL-9). Given the pleiotropic functions of IL-9, Th9 cells might be involved in pathogen immunity and immune-mediated disease. In this review, I focus on recent developments in understanding the signals that promote Th9 differentiation, the transcription factors that regulate IL-9 expression, and finally the potential roles for Th9 cells in immunity in vivo.

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Section: What Can Th9 Cells Do?mentioning

confidence: 73%

Th9 cells: differentiation and disease

Kaplan

2013

Immunological Reviews

262

203

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“…However, some studies failed to detect any linkage between chromosome 5q23–33 markers and IgE, BHR and asthma in isolated Finnish, Scottish and Hutterites families (Laitinen et al ., 1997; Mansur et al ., 2000; Ober et al ., 2000). However, in these studies environmental factors were not considered when evaluating the interaction effects of IL‐9 gene.…”

Section: Discussionmentioning

confidence: 99%

The synergistic effects of the IL‐9 gene and environmental exposures on asthmatic Taiwanese families as determined by the transmission/disequilibrium test

Wang

Huang

et al. 2006

Int J Immunogenetics

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Asthma occurs in genetically susceptible individuals in the presence of environmental factors. The interleukin-9 (IL-9) gene, one of the cytokine genes located on chromosome 5q31, plays an important role in the development of asthmatic syndrome by enhancing both T-cell and mast-cell function. This study investigated GT repeat polymorphism of the IL-9 gene and the gene-environment interactions, which may predispose individuals to asthma and atopy pathogenesis. In this study, we used the transmission/disequilibrium test (TDT) to investigate the relationship between asthma and the IL-9 gene by studying 123 parent-offspring trios and 91 siblings. For allele-specific TDT chi-squared test, allele 122 of the IL-9 gene showed significant association with asthmatics with specific IgE against house dust (HD) (P = 0.038). The additions of covariates to TDT to conduct the synergistic effects between the IL-9 gene and environmental factors into account were estimated by conditional logistic regression models. The odds ratio for transmission of allele 122 of the IL-9 gene was 1.23 (P = 0.28) for all asthmatic probands. There was slight increased interaction effect on asthma between transmission of allele 122 of IL-9 gene to offspring and who were exposed to the fur of pets (OR = 3.33, P = 0.047). We also detected elevated odds of transmission of allele 122 to atopic asthmatic probands (OR = 2.08, P = 0.03) and offspring with very high levels of serum IgE (> or = 800 IU mL(-1)). In conclusion, this study has found that the IL-9 gene was slightly associated with asthmatics who have positive specific IgE against Der p (or Der f) and house dust, when information on environmental factors was incorporated as effect modifiers.

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“…Heritability of BHR has been estimated at about 30% [Palmer et al, 2000]. Evidence of significant associations between asthma with BHR and the ADAM33 region of chromosome 20p13 [van Eerdewegh et al, 2002], and between BHR independent of atopy and specific GSTP1 polymorphisms at 11q13 [Fryer et al, 2000] has been reported, however, results related to BHR and markers at 5q have been conflicting [Postma et al, 1995; Mansur et al, 2000]. No studies, to our knowledge, have used segregation analysis and found statistical corroboration of a major gene controlling BHR.…”

Section: Discussionmentioning

confidence: 99%

“…Linkage analysis of the affected sib pairs showed evidence of linkage between BHR and several genetic markers (D5S436, D5S658, D5S393, and FGFA) at 5q31‐33. In contrast, Mansur et al [2000] found no evidence for linkage between BHR and any 5q23‐31 markers in symptomatic and asymptomatic probands selected from a community sample. Fryer et al [2000] used trend analysis to look at the proportion of subjects with specific glutathione S‐transferase GSTP1 genotypes (on chromosome 11q13) in each of four BHR groups, ranging from non‐responsive to severe BHR.…”

Section: Introductionmentioning

confidence: 95%

“…Studies using linkage analysis for BHR have reported conflicting results for markers on chromosome arm 5q [Postma et al, 1995; Mansur et al, 2000], 11q [Amelung et al, 1998; Malerba et al, 1999], and 20p [van Eerdewegh et al, 2002]. Postma et al [1995] found that total serum IgE levels were significantly correlated in sib pairs who were concordant for BHR ( P < 0.01), implying coinheritance of these traits.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Segregation analysis of bronchial hyperresponsiveness in a general population in north italy

Kurzius-Spencer¹,

Holberg²,

Sherrill³

et al. 2003

American J of Med Genetics Pt A

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Bronchial hyperresponsiveness (BHR) is an intermediate phenotype of asthma, with a heritability component of 30-67% and possible linkage to regions on chromosome arms 5q, 11q, and 20p. Familial correlation analysis and segregation analysis for BHR, using the FCOR and REGC programs of the S.A.G.E package, were performed to examine inheritance patterns of BHR in a general population of 1167 subjects in 550 families from the Po River Delta. BHR was assessed using the log(10) of the slope of the methacholine dose-response curve (log slope) for each subject who met inclusion criteria. Using multiple linear regression analysis, the log slope values were adjusted for age, age(2), sex, and height, and used in the familial correlation and segregation analyses. Father-offspring correlations are statistically significant, due specifically to high father-son correlations (r = 0.296, P < 0.001, adjusted values). Segregation analysis of BHR in the overall population, with and without a smoking covariate (number of packyears smoked), indicates an apparent absence of genetic transmission within families. However, in a segregation analysis of BHR in smoking families only, after adjusting for number of packyears smoked, the Mendelian transmission models could not be rejected. This may be evidence of a gene by smoking effect, and suggests that in families of smokers, a single locus gene may in part explain the inheritance of a compound phenotype (BHR x packyears).

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Lack of linkage between chromosome 5q23–33 markers and IgE/bronchial hyperreactivity in 67 Scottish families

Abstract: This study presents evidence against the presence of a gene with a major effect on total serum IgE or BHR in the 5q23-33 region, in this ethnic group.

Cited by 7 publications

References 30 publications

Th9 cells: differentiation and disease

Th9 cells: differentiation and disease

The synergistic effects of the IL‐9 gene and environmental exposures on asthmatic Taiwanese families as determined by the transmission/disequilibrium test

Segregation analysis of bronchial hyperresponsiveness in a general population in north italy

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