OBJECTIVETo study in the linkage between eotaxin-3 gene polymorphisms and allergic asthma susceptivity, blood plasma IgE or peripheral blood eosinophil in adult population of Han nationality from Hubei province of China.

METHODSPolymerase chain reaction (PCR), single strand conformation polymorphism (SSCP), tetra-primer PCR technique and restriction analysis were applied to identify the single nucleotide polymorphism.

RESULTSThe allele frequency of eotaxin-3 +2497 G, total levels of plasma IgE and peripheral blood eosinophil counts revealed the significant difference between control and allergic asthma group, that the P value was 0.011, 0.021 or 0.029 respectively. The allele frequency of eotaxin-3 +77 T and total levels of plasma IgE showed to have no significant difference between control and allergic asthma group, that the P value was 0.824 and 0.473 respectively. However, the peripheral blood eosinophil counts was significantly different between control and allergic asthma group, and the P value was 0.044.

CONCLUSIONSingle nucleotide polymorphism of eotaxin-3 +2497 is associated with the asthma susceptibility, peripheral eosinophil counts and total levels of plasma IgE in adult population from Hubei province, and polymorphism of +77 is associated with peripheral eosinophil counts.

Adult ; Alleles ; Asthma ; genetics ; immunology ; Base Sequence ; Chemokine CCL26 ; Chemokines, CC ; genetics ; China ; ethnology ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Humans ; Immunoglobulin E ; blood ; Male ; Middle Aged ; Molecular Sequence Data ; Polymorphism, Genetic ; Young Adult

Transforming growth factor-beta (TGF-beta) and its receptors have been suggested to play key roles in the pathogenesis of asthma. The aim of this study was to evaluate the effects of genetic variations in the TGF-beta receptor type III (TGFBR3) on asthma and on its related phenotypes in the general population. A cohort of 2,118 subjects aged from 10 to 18 years responded to a questionnaire concerning asthma symptoms and risk factors. Methacholine airway hyperresponsiveness (AHR), skin test responses to common aeroallergens, and serum total IgE levels were evaluated in the cohort. A total of 19 SNPs for TGFBR3 were found using direct re-sequencing in 24 healthy adults. Of these, informative SNPs [+44T>C (S15F) and +2753G>A at 3'UTR] were selected and scored using the high throughput single base extension method. Atopy was identified in subjects with 44T>C allele [P = 0.04, OR (95% CI) = 0.79 (0.62-0.99)] and in subjects with Ht1 (CG) more frequently than in subjects with other haplotypes [P = 0.04, OR (95% CI) = 1.27 (1.01-1.59)]. The A allele in 2753G>A was more common in subjects with non-atopic asthma [OR (95% CI) = 1.76 (1.01-3.05)]. A significant association was found between non-atopic asthma and 44T_2753A [OR (95% CI) = 2.16 (1.22-3.82)]. Genetic variations in TGFBR3 appear to be associated with a genetic predisposition to development of asthma and to phenotypes of asthma. Also, the minor allele 2753G and the haplotype TA in the TGFBR3 gene were associated with a pathogenesis of non-atopic asthma.
Adolescent ; Adult ; Asian Continental Ancestry Group/*genetics ; Asthma/ethnology/*genetics/immunology ; Case-Control Studies ; Child ; Cohort Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; *Genetic Variation/physiology ; Genetics, Population ; Genome-Wide Association Study ; Genotype ; Humans ; Immunoglobulin E/immunology ; Linkage Disequilibrium ; Male ; Proteoglycans/*genetics ; Receptors, Transforming Growth Factor beta/*genetics