Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population.
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.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan. wafaa@pediatr.med.kyushu-u.ac.jp.
Wafaa M
WM
Bassuny
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Kenji
K
Ihara
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Junko
J
Kimura
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Shigeki
S
Ichikawa
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Ryuichi
R
Kuromaru
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Kenichi
K
Miyako
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Kouichi
K
Kusuhara
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Yuka
Y
Sasaki
Department of Endocrinology and Metabolism, Fukuoka Children's Hospital, Fukuoka, Japan.
Hitoshi
H
Kohno
Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan.
Nobuo
N
Matsuura
National Minami-Fukuoka Chest Hospital, Fukuoka, Japan.
Sankei
S
Nishima
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, 812 8582, Fukuoka , Japan.
Toshiro
T
Hara
D000293:Adolescent; D001249:Asthma / Q000209:etiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007371:Interferon-gamma / Q000378:metabolism; D007564:Japan; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics* / Q000378:metabolism; D053707:Receptors, Interleukin-12
C508438:IL12RB1 protein, human; C508439:IL12RB2 protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D007371:Interferon-gamma