• Journal of Life Science
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• v.14 no.5
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• pp.847-854
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• 2004

Allergy is a multi-factorial disease influenced by genetic and environmental factors. As the number of allergy-affected people is increasing in developed countries, there is an increasing interest in genetic predisposition to the allergy. A number of genes and chromosomal region have been identified to be linked to allergy including rhinitis, asthma and atopy. In order to understand the genetic background for the allergy-affected people, we investigated genetic predisposition among students enrolled in Busan Science Academy. Among 138 students, about 30% students had some allergy-related disorder including rhinitis, asthma and atopy. We analyzed several single nucleotide polymorphisms (SNPs) within two genes, Inter-leukin-4(IL-4) and Interleukin-4 receptor(IL-4R), which are involved in the induction of allergy reaction with the Th2 immunity. For 96 samples obtained from students, we analyzed 9 SNPs including -590 C/T and -34 C/T in IL-4, and I75V, Q576R, E375A, e406R, 5411L, S761P and S727A in IL-4R. From the analysis, these SNPs showed slight differences among normal and allergy-affected students, but these differences was not enough to predict the predisposition to the allergy. In contrast to previous reports, we could not find SNP(s) related with allergy. These results suggest that genetic tests recently performed in Korea widely have to be reassessed for its validity of genetic predisposition. [Supported by grants from MOST]

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.175-182
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• 2005

Purpose : Interleukin 1 receptor antagonist(IL-1ra) is an endogenous antiinflammatory agent that binds to IL-1 receptor and thus competitively inhibits the binding of IL-1$\alpha$ and IL-1$\beta$. Allele 2 in association with various autoimmune diseases has been reported. In order to evaluate the influence of IL-1ra gene VNTR polymorphism on the susceptibility to HSP and its possible association with disease severity, manifested by severe renal involvement and renal sequelae, we studied the incidence of carriage rate and allele frequency of the 2 repeats of IL-1ra allele 2($IL1RN^{*}2$) of the IL-1ra gene in children with HSP with and without renal involvement. Methods : The IL-1ra gene polymorphisms were determined in children with HSP with(n=40) or without nephritis(n=34) who had been diagnosed at Busan Paik Hospital and the control groups(n=163). Gene polymorphism was identified by PCR amplification of the genomic DNA. Results : The allelic frequency and carriage rate of $IL1RN^{*}1$ were found most frequently in patients with HSP and in controls. The allelic frequency of $IL1RN^{*}2$ was higher in patients with HSP compared to that of controls($4.7\%\;vs.\;2.5\%$, P=0.794). The carriage rate of $IL1RN^{*}2$ was higher In patients with HSP compared to that of controls($8.1\%\;vs.\;6.8\%$, P=0.916). The allelic frequency of $IL1RN^{*}2$ was higher in patients with HSP nephritis compared to that of HSP($5.3\%\;vs.\;2.9\%$, P=0.356). The carriage rate of $IL1RN^{*}2$ was higher in Patients with HSP nephritis compared to that of HSP($10.0\%\;vs.\;5.9\%$, P=0.523). Among 13 patients with heavy proteinuria(>1.0 g), 11 had $IL1RN^{*}1$, 1 had $IL1RN^{*}2$ and the others had $IL1RN^{*}4$. At the time of last follow up 4 patients had sustained proteinuria and their genotype was $IL1RN^{*}1$. Conclusion : The allelic frequency and carriage rate of $IL1RN^{*}1$ were found most frequently in patients with HSP and in controls. Our study suggests that the carriage rate and allele frequency of the 2-repeats of IL-1lra allele 2($IL1RN^{*}2$) of the IL-1ra gene may not be associated with susceptibility and severity of renal involvement in children with HSP (J Korean Soc Pediatr Nephrol 2005;9:175-182)