No abstract

SNPs rs644242 and rs662702 had marginal significance (P = 0.063), and further analyses showed that these SNPs were associated with extreme myopia (≤ -11 D). The OR for extreme myopia was 2.1 (empiric P = 0.007) for the CC genotype at SNP rs662702 at the 3'UTR. The functional assay for SNP rs662702 demonstrated that the C allele had a significantly lower expression level than did the T allele (P = 0.0001). SNP rs662702 was predicted to be located in the microRNA-328 binding site, which may explain the differential allelic effect on gene expression. CONCLUSIONS; In this study, a functional SNP was identified at the 3'UTR that influences the risk for extreme myopia. The functional assay suggested that the risk allele can reduce PAX6 protein levels which significantly increases the risk for myopia.

Genetic factors are important in the development of glioma. Interleukin-12 (IL-12) is a multifunctional cytokine that induces Interferon (IFN)-gamma secretion and plays an important role in antitumor immunity. Interleukin-27 (IL-27) is a novel IL-12 family member, and the present studies demonstrate that IL-27 mediates a potent antitumor activity. The aim of this study was to investigate whether IL-12 and IL-27 gene polymorphisms and their serum levels are associated with glioma. We analyzed IL-12 gene 16974 A/C and IL-27 gene -964 A/G, 2905 T/G, and 4730 T/C polymorphisms in 210 patients with glioma and 220 matched controls, using polymerase chain reaction-restriction fragment length polymorphism method and DNA sequencing methods, while serum IL-12p40 and IL-27p28 levels were measured by enzyme-linked immunosorbent assay. Serum IL-12p40 and IL-27p28 levels were decreased in patients with glioma compared with controls (p < 0.01). There were significant differences in the genotype and allele frequencies of the IL-12 gene 16974 A/C polymorphism between the group of patients with glioma and the control group (p < 0.05). Moreover, genotypes carrying the IL-12 16974 C variant allele were associated with decreased serum IL-12p40 and IL-27p28 levels compared to the homozygous wild-type genotype in patients with glioma. The IL-12 gene 16974 A/C polymorphism may regulate expression of the serum IL-12p40 and IL-27p28, and associate with increased risk of glioma. Thus, genotypes carrying the IL-12 16974 C variant allele had a decreased ability to produce IL-12 and IL-27, which may contribute to glioma susceptibility.

The early postnatal period is the most dynamic and vulnerable stage in the assembly of intestinal microbiota. Antibiotics are commonly prescribed to newborn preterm babies and are frequently used for a prolonged duration in China. We hypothesized that the prolonged antibiotic therapy would affect the early development of intestinal microbiota and their metabolites. To test this hypothesis, we analyzed the stool microbiota and metabolites in 36 preterm babies with or without antibiotic treatment. These babies were divided into three groups, including two groups treated with the combination of penicillin and moxalactam or piperacillin-tazobactam for 7 days, and the other group was free of antibiotics. Compared to the antibiotic-free group, both antibiotic-treated groups had distinct gut microbial communities and metabolites, including a reduction of bacterial diversity and an enrichment of harmful bacteria such as Streptococcus and Pseudomonas. In addition, there was a significant difference in the composition of gut microbiota and their metabolites between the two antibiotic-treated groups, where the piperacillin-tazobactam treatment group showed an overgrowth of Enterococcus. These findings suggest that prolonged antibiotic therapy affects the early development of gut microbiota in preterm infants, which should be considered when prescribing antibiotics for this population.