The ADAM33 S2 polymorphism is associated with susceptibility to pediatric asthma in the Chinese Han population.

BACKGROUND: The disintegrin and metalloprotease domain containing protein 33 (ADAM33) is a novel susceptibility gene for asthma and airway hyperresponsiveness, particularly in the Asian population. We investigated the influence of ADAM33 polymorphisms on the serum levels of ADAM33 and the susceptibility to pediatric asthma in the Chinese Han population. METHODS: Polymerase chain reaction-restriction fragment length polymorphism analysis was employed to study the genotypic distribution of F+1, T1, and S2 in ADAM33 in a cohort of 120 pediatric asthma patients and 105 healthy controls. The serum levels of secreted ADAM33 protein were measured in all the study subjects using the enzyme-linked immunosorbent assay (ELISA). RESULTS: This case-control study showed that the distribution of F+1 and T1 genotypes of ADAM33 was not significantly different between pediatric asthma patients and healthy controls (p > 0.05); however, the genotype and allele frequencies of the S2 polymorphism were significantly different between asthmatic patients and healthy controls (both p < 0.05). In addition, the frequency of CGC and CGG haplotypes exhibited statistically significant differences, with lower CGC and higher CGG frequencies found in the case group compared to the control group. Finally, in comparison to healthy controls, the serum levels of ADAM33 protein were significantly lower in patients carrying the S2 polymorphism. CONCLUSION: Our results provide evidence that the ADAM33 S2 polymorphism is associated with increased susceptibility to pediatric asthma and that the CGG haplotype for the F+1, T1, and S2 polymorphisms is associated with an elevated risk of pediatric asthma in the Han population, whereas the CGC haplotype appears to confer a protective effect. Our results may prove useful for population-based screening to affect early intervention.

High plasma neopterin levels in Chinese children with autism spectrum disorders.

BACKGROUND: Neopterin, a pteridine mainly synthesized by activated macrophages, is a marker of inflammation, immune system activation and an active participant in Autism spectrum disorders (ASD). The aim of this study was to assess the clinical significance of plasma neopterin levels in ASD. METHODS: Eighty patients diagnosed with ASD and 80 sex and age matched typically developing children were assessed for plasma levels of neopterin at admission. Plasma neopterin levels were measured using a human ELISA kit and severity of ASD were evaluated with the Childhood Autism Rating Scale (CARS) score. RESULTS: We found that the mean plasma neopterin level was significantly (P<0.0001) higher in children with ASD as compared to controls. Plasma neopterin increased with increasing severity of ASD as defined by the CARS score. Based on the ROC curve, the optimal cutoff value of plasma neopterin level as an indicator for auxiliary diagnosis of ASD was projected to be 8.5nmol/L, which yielded a sensitivity of 84.2% and a specificity of 80.1%, with the area under the curve at 0.876 (95% CI, 0.825-0.928). Elevated neopterin (≥8.5nmol/L) was an independent diagnosis indicator of ASD with an adjusted OR of 12.11 (95% CI: 5.48-28.11; P<0.0001). CONCLUSIONS: These results indicated that autistic children had higher plasma levels of neopterin, and elevated plasma neopterin levels may be associated with severity of ASD among Chinese children.