Association study between interleukin-12 receptor β1/β2 genes and type 1 diabetes or asthma in the Japanese population

Abstract

Interleukin-12 (IL-12) secreted from macrophages or dendritic cells plays an important role in the protection against intracellular pathogens as well as the developmental commitment of T helper 1 cells. IL-12 exerts its biological effects through binding to specific IL-12 receptors (IL-12Rs) termed IL-12Rbeta1 and IL 12Rbeta2. In this paper, we performed association studies between the three reported polymorphisms (Q214R, M365T and G378R) of the IL-12Rbeta1 gene or the newly identified polymorphisms (P238L, IVS9 -7G>A, IVS13 -121G>A, A643T, P779P and c.3283T>G) of the IL-12Rbeta2 gene, and the development of type 1 diabetes or atopic asthma as representative Th1- and Th2- dominant diseases, respectively. The association study of each polymorphism of the IL-12Rbeta1 or IL-12Rbeta2 gene and type 1 diabetes or asthma showed that these IL-12R genes did not contribute to the development of type 1 diabetes or asthma in the Japanese population. Further analysis in individuals with susceptibility to intracellular pathogens may elucidate the importance of the IL-12R genes.

Interleukin 12 (IL12B) and Interleukin 12 Receptor (IL12RB1) Gene Polymorphisms in Rheumatoid Arthritis

“…Our findings are in agreement with recent reports where no association with IL12RB1polymorphisms was found in type 1 diabetes [13,25]. The frequency distribution of the IL12RB1 polymorphism was similar to that described in a white population [13].…”

Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rβ1 and β2) genes and gene–gene interactions with atopic dermatitis in Koreans

“…However, Bassuny et al [10] did not find any association between asthma and the IL-12RB1 or B2 SNPs in the Japanese population. We found the SNP and haplotype CCA in the IL-12RB1 gene is associated with ADe.…”

“…Although SNP association studies of the IL-12 and/or IL-12R genes have been reported for pulmonary tuberculosis [8,9], diabetes [10], SLE [11], rheumatoid arthritis [12], celiac disease [13], leiomyomas [14], and multiple sclerosis [15], only two studies have shown a positive association between the IL-12 and/or IL-12R genes and asthma and atopic dermatitis [16,17]. The IL-12B promoter SNP (-6415) has been reported to be associated with childhood asthma patients [16], and for the SNP 1188A/C in the IL-12B gene, the A allele is decreased in AD patients (40.9%) and increased in psoriasis patients (60.1%), as compared with controls [17].…”

The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency

“…The amplification products were analysed by electrophoresis on 2% agarose gels stained with ethidium bromide. Linkage disequilibrium coefficients, D′ = D/Dmax (or D/Dmin if the D‐value was negative), were calculated for pairs of alleles between the two sites of polymorphisms as previously described 25 …”