Objective To explore the heredity susceptibility of children to Kawasaki disease (KD) through studying expression and genomic density polymorphism of peripheral erythrocyte complement receptor-1 (ECRI). Methods Thirty cases of KD patients and 28 cases of healthy children were included in this study. The rates of red blood cell (RBC)-C3bRR and RBC-ICR were detected by method described elsewhere. The ECR1 activity and genomic density polymorphism were detected by Hind Ⅲ restriction enzyme digestion polymerase chain reaction-restriction fragment length polymorphism. Results Rates of RBCoC3bRR of KD patients during the acute phase was significantly lower than that of the control group (P < 0.01), and remained lower than the control group during the recovering phase (P < 0.05). The rates of RBC-ICR were significantly higher in KD patients than that of the control group (P < 0.05). Frequencies of HL and LL genotypes of KD patients were more than those of the control group (P < 0.01). A significant difference was found in the frequency distribution of ECR1 genotype between the two groups (P < 0.01). L allele frequency in the patient group was higher than that in the control group. Conclusions Depressed RBC immune function in KD patients may be linked to the high frequency of L allele, which implies the genomic density polymorphism of ECR1 play an important role in determining susceptibility to Kawasaki disease. (J Clin Pediatr,2010,28(2):160-163)

OBJECTIVES: Intracerebral hemorrhage (ICH) has the highest mortality and disability rates among various subtypes of stroke. Previous studies have shown that the gut microbiome (GM) is closely related to the risk factors and pathological basis of ICH. This study aims to explore the causal effect of GM on ICH and the potential mechanisms. METHODS: Genome wide association study (GWAS) data on GM and ICH were obtained from Microbiome Genome and International Stroke Genetics Consortium. Based on the GWAS data, we first performed Mendelian randomization (MR) analysis to evaluate the causal association between GM and ICH. Then, a conditional false discovery rate (cFDR) method was conducted to identify the pleiotropic variants. RESULTS: MR analysis showed that Pasteurellales, Pasteurellaceae, and Haemophilus were negatively correlated with the risk of ICH, whileVerrucomicrobiae, Verrucomicrobiales, Verrucomicrobiaceae, Akkermansia, Holdemanella, and LachnospiraceaeUCG010 were positively correlated with ICH. By applying the cFDR method, 3 pleiotropic loci (rs331083, rs4315115, and rs12553325) were found to be associated with both GM and ICH. CONCLUSIONS There is a causal association and pleiotropic variants between GM and ICH.
Humans ; Genome-Wide Association Study ; Gastrointestinal Microbiome/genetics* ; Genetic Predisposition to Disease ; Cerebral Hemorrhage/genetics* ; Stroke