PURPOSE: IL-23 has been shown to be involved in the pathogenesis of Behcet's disease (BD) through promoting IL-17 production. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population. METHODS: Four single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, rs 1343151 and rs17375018 were genotyped in 338 BD patients and 407 age, sex and ethnically matched healthy controls using a PCR restriction fragment length polymorphism assay. RESULTS: A significantly increased prevalence of the homozygous rs17375018 GG genotype and G allele was found in BD patients compared with controls (corrected p (p(c))<0.001,odds ratio (OR) 1.86, 95% CI 1.39 to 2.49; p(c)<0.001, OR 1.57, 95% CI 1.25 to 1.98, respectively). The frequencies of the AA genotype and A allele of the SNP rs11209032 were significantly higher in BD patients compared with controls (p(c)=0.024, OR 1.69, 95% CI 1.21 to 2.35; p(c)<0.001, OR 1.48, 95% CI 1.21 to 1.82, respectively). In addition, the results showed a significantly decreased frequency of the AGCG haplotype in BD patients compared with controls (p(c)=0.0016, OR 0.59, 95% CI 0.45 to 0.77). CONCLUSIONS: This study, for the first time, identified a strong association of an SNP of IL-23R, rs17375018, with BD. The results also suggested that both rs11209032 AA and rs17375018 GG of IL-23R are predisposing genotypes for BD and that the AGCG haplotype may provide protection against BD.
PURPOSE:IL-23 has been shown to be involved in the pathogenesis of Behcet's disease (BD) through promoting IL-17 production. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population. METHODS: Four single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, rs 1343151 and rs17375018 were genotyped in 338 BD patients and 407 age, sex and ethnically matched healthy controls using a PCR restriction fragment length polymorphism assay. RESULTS: A significantly increased prevalence of the homozygous rs17375018 GG genotype and G allele was found in BD patients compared with controls (corrected p (p(c))<0.001,odds ratio (OR) 1.86, 95% CI 1.39 to 2.49; p(c)<0.001, OR 1.57, 95% CI 1.25 to 1.98, respectively). The frequencies of the AA genotype and A allele of the SNP rs11209032 were significantly higher in BD patients compared with controls (p(c)=0.024, OR 1.69, 95% CI 1.21 to 2.35; p(c)<0.001, OR 1.48, 95% CI 1.21 to 1.82, respectively). In addition, the results showed a significantly decreased frequency of the AGCG haplotype in BD patients compared with controls (p(c)=0.0016, OR 0.59, 95% CI 0.45 to 0.77). CONCLUSIONS: This study, for the first time, identified a strong association of an SNP of IL-23R, rs17375018, with BD. The results also suggested that both rs11209032 AA and rs17375018 GG of IL-23R are predisposing genotypes for BD and that the AGCG haplotype may provide protection against BD.
Authors: Lara Bossini-Castillo; Jose-Ezequiel Martin; Jasper Broen; Olga Gorlova; Carmen P Simeón; Lorenzo Beretta; Madelon C Vonk; Jose Luis Callejas; Ivan Castellví; Patricia Carreira; Francisco José García-Hernández; Mónica Fernández Castro; Marieke J H Coenen; Gabriela Riemekasten; Torsten Witte; Nicolas Hunzelmann; Alexander Kreuter; Jörg H W Distler; Bobby P Koeleman; Alexandre E Voskuyl; Annemie J Schuerwegh; Øyvind Palm; Roger Hesselstrand; Annika Nordin; Paolo Airó; Claudio Lunardi; Raffaella Scorza; Paul Shiels; Jacob M van Laar; Ariane Herrick; Jane Worthington; Christopher Denton; Filemon K Tan; Frank C Arnett; Sandeep K Agarwal; Shervin Assassi; Carmen Fonseca; Maureen D Mayes; Timothy R D J Radstake; Javier Martin Journal: Hum Mol Genet Date: 2011-11-10 Impact factor: 6.150
Authors: J Shimizu; K Takai; N Fujiwara; N Arimitsu; Y Ueda; S Wakisaka; H Yoshikawa; F Kaneko; T Suzuki; N Suzuki Journal: Clin Exp Immunol Date: 2012-04 Impact factor: 4.330
Authors: David A Martin; Jennifer E Towne; Gregory Kricorian; Paul Klekotka; Johann E Gudjonsson; James G Krueger; Chris B Russell Journal: J Invest Dermatol Date: 2012-06-07 Impact factor: 8.551