ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease.

PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood. We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with the hypersensitive reaction to the BCG strain in Koreans. MATERIALS AND METHODS: Associations between KD and SNPs in two genes were evaluated. Potential associations between BCG injection site erythema and SNPs in two genes were also evaluated. Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. SNP rs77624405 in SLC11A1 was associated with KD. Comparisons of KD patients with and without BCG injection site erythema revealed that SNP rs17235409 in SLC11A1 was associated with erythema; no erythema-associated SNPs in ITPKC were identified. Interactions between ITPKC rs28493229_GG and SLC11A1 rs17235409_GA and between ITPKC rs10420685_GG and SLC11A1 rs17235409_AA were strongly associated with BCG injection site erythema. CONCLUSION: This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. The genetic variants identified in this study affected KD and erythema of BCG injection sites independently and through gene-gene interactions. Also, the effects of the polymorphisms were age-dependent.

Effects of verb meaning on lexical integration in agrammatic aphasia: Evidence from eyetracking.

Relatively little is known about the time course of access to the lexical representations of verbs in agrammatic aphasia and its effects on the prediction and integration of the verb's arguments. The present study used visual-world eyetracking to test whether verb meaning can be used by agrammatic aphasic individuals to predict and facilitate the integration of a subsequent noun argument. Nine adults with agrammatic aphasia and ten age-matched controls participated in the study. In Experiment 1, participants viewed arrays of four objects (e.g., jar, plate, stick, pencil) while listening to sentences containing either a restrictive verb that was semantically compatible only with the target object or an unrestrictive verb compatible with all four objects (e.g., Susan will open/break the jar). For both participant groups, the restrictive condition elicited more fixations to the target object immediately after the verb. Experiment 2 differed from Experiment 1 in that the auditory sentences presented were incomplete (e.g., Susan will open/break the…). For controls, restrictive verbs elicited more target fixations immediately after the verb; however, the effects of verb type were noted downstream from the verb for the aphasic listeners. The results suggest that individuals with agrammatic aphasia have preserved ability to use verb information to facilitate integration of overt arguments, but prediction of upcoming arguments is impaired. Impaired lexical-semantic prediction processes may be caused by damage to the left inferior frontal gyrus, which has been argued to support higher-level lexical processes.