Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10(-11), odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10(-9), OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10(-12), OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings(1). The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease.

Purpose To compare the macular retinal thickness and macular volume between subjects with high myopia and non-myopia. Methods This prospective nonrandomized, comparative study recruited healthy subjects with high myopia subjects, defined as a spherical equivalence (SE) over À6 dioptres (D) or AXLX26.5 mm and the best corrected visual acuity better than 20/25, and subjects with non-myopia, defined as an with SE between 1.5D and À1.5 D and the BCVA better than 20/25. Optical coherence tomography was performed in each eye. Results Eighty high myopic eyes and 40 non-myopic eyes were included. The mean age of the high myopic group and non-myopia group was 29.6 and 27.5 years old, respectively. The mean refraction was -9.27 D in the high myopia group and -0.22 D in the non-myopia group. The high myopia group had significantly greater mean retinal thickness in the foveola and fovea 1 mm area than the non-myopia group (166 vs 149 lm, Po0.0001, 199 vs 188 lm, P ¼ 0.0063, respectively). However, the mean retinal thickness in the inner and outer macular area (superior, nasal, inferior, or temporal) of the high myopia group was significantly less than in the non-myopia group. In addition, the high myopia group had significantly smaller macular volume than the non-myopia group (Po0.0001). Conclusion This study demonstrated that the retinal thickness in individuals with high myopia is thicker in the foveola and fovea, but thinner in the inner and the outer macular region. The retina of individuals with high myopia had smaller macular volume than those with non-myopia.

To find new candidate loci predisposing individuals to Kawasaki disease, an acute vasculitis that affects children, we conducted a genome-wide association study in 622 individuals with Kawasaki disease (cases) and 1,107 controls in a Han Chinese population residing in Taiwan, with replication in an independent Han Chinese sample of 261 cases and 550 controls. We report two new loci, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10(-8)). Our findings may lead to a better understanding of the role of immune activation and inflammation in Kawasaki disease pathogenesis.