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As recent studies have described an association between vitamin D and allergic rhinitis, we hypothesized that vitamin D pathway-related genes may be candidate genes for susceptibility to allergic rhinitis. Thus, we sought to evaluate whether polymorphisms in the vitamin D receptor (VDR) and CYP2R1 genes are associated with mite-sensitized persistent allergic rhinitis (PER) in a Han Chinese population. A hospital-based case-control study consisting of 519 patients with mite-sensitized PER and 447 healthy controls was conducted. Five single nucleotide polymorphisms (SNPs) in VDR and CYP2R1 were selected for genotyping. The genotype and allele frequencies of rs9729, rs2228570, rs1544410, and rs731236 in VDR as well as rs2060793 in CYP2R1 were not significantly associated with susceptibility to mite-sensitized PER. After stratification analyses, however, both the CT and CT/TT genotypes of rs2228570 in VDR exhibited a significantly decreased risk (CT: adjusted odds ratio (OR)=0.58, 95% confidence intervals (CI)=0.37-0.91; CT/TT: adjusted OR=0.61, 95% CI=0.40-0.93) of mite-sensitized PER, while the AA genotype of rs2060793 in CYP2R1 exhibited a significantly increased risk (adjusted OR=1.85, 95% CI=1.03-3.34) of PER in the age subgroup of <16 years old. Both the AG and AG/GG genotypes of rs731236 in VDR exhibited a significantly decreased risk (AG: adjusted OR=0.43, 95% CI=0.21-0.89; AG/GG: adjusted OR=0.46, 95% CI=0.23-0.94) of PER in the female subgroup. Analysis of the locus-locus interactions of VDR and CYP2R1 revealed two models that involved combined SNPs of VDR and CYP2R1 were statistically significant (P<0.05). Our data suggest that age and gender may have an impact on the association of three SNPs (rs2228570, rs731236, and rs2060793) in genes of the vitamin D pathway with the risk of mite-sensitized PER in this Chinese population. The VDR and CYP2R1 variants may be involved in genetic interactions in the pathogenesis of PER. [ABSTRACT FROM AUTHOR]

Conclusion: Elevated levels of hypoxia-inducible factor 1α (HIF-1α) in middle ear effusion may play an important role in the pathogenesis of bone conduction impairment associated with otitis media with effusion (OME). The mechanism may be related to the up-regulation of nitric oxide (NO) expression. Objectives: This study was undertaken to investigate the role of HIF-1α in the pathogenesis of sensorineural hearing loss associated with OME. Methods: One hundred and eight OME patients were divided into two groups: OME without bone conduction impairment (group 1) and OME with bone conduction impairment (group 2). The levels of HIF-1α, NO, and quinolinic acid (QUIN) in the middle ear effusion and serum of these patients were investigated. The relationship between these factors and the bone conduction threshold (BCT) differences were analyzed. Results: The levels of HIF-1α and NO concentrations in the middle ear effusion were found to be significantly higher in group 2 than in group 1 (both p < 0.05). The OME patients' BCT differences at 4000 Hz were correlated with the levels of HIF-1α and the NO concentrations in the middle ear effusion. Furthermore, the HIF-1α levels were correlated with the levels of NO but not with the levels of QUIN in the effusion. [ABSTRACT FROM AUTHOR]

Conclusion: Elevated levels of hypoxia-inducible factor 1α (HIF-1α) in middle ear effusion may play an important role in the pathogenesis of bone conduction impairment associated with otitis media with effusion (OME). The mechanism may be related to the up-regulation of nitric oxide (NO) expression. Objectives: This study was undertaken to investigate the role of HIF-1α in the pathogenesis of sensorineural hearing loss associated with OME. Methods: One hundred and eight OME patients were divided into two groups: OME without bone conduction impairment (group 1) and OME with bone conduction impairment (group 2). The levels of HIF-1α, NO, and quinolinic acid (QUIN) in the middle ear effusion and serum of these patients were investigated. The relationship between these factors and the bone conduction threshold (BCT) differences were analyzed. Results: The levels of HIF-1α and NO concentrations in the middle ear effusion were found to be significantly higher in group 2 than in group 1 (both p < 0.05). The OME patients' BCT differences at 4000 Hz were correlated with the levels of HIF-1α and the NO concentrations in the middle ear effusion. Furthermore, the HIF-1α levels were correlated with the levels of NO but not with the levels of QUIN in the effusion. [ABSTRACT FROM AUTHOR]

Background: The polymorphisms inside microRNA target sites locating in the 3′-UTR region may introduce the micro-RNA-binding changes, which may regulate the gene expression and correlate with the potential diseases. Objectives: We aimed to investigate whether the polymorphisms in microRNA target sites of transforming growth factor beta (TGF-β) signaling pathway genes are associated with the susceptibility of mite-sensitized allergic rhinitis (AR) in a Han Chinese population. Methods: In this case-control study, 454 AR patients and 448 healthy controls were recruited. Three HapMap single-nucleotide polymorphisms (SNPs) were mapped to putative microRNA recognition sites and genotyped by TaqMan allelic discrimination assay. Results: The genotype and allele frequencies of 3 SNPs (rs1590 in TGFBR1; rs1434536 and rs17023107 in BMPR1B) showed lack of significant association with AR. However, in the subgroup analysis, the TG, GG, and TG/GG genotypes of rs1590 exhibited significantly increased risk of AR in the male subgroup (TG: adjusted OR = 1.57, 95% CI = 1.08–2.31; GG: adjusted OR = 1.76, 95% CI = 1.09–2.86; TG/GG: adjusted OR = 1.62, 95% CI = 1.13–2.33). The CT genotypes of rs17023107 might have potential to protect against AR in the patients age of <15 years (adjusted OR = 0.37, 95% CI = 0.14–0.95) and the males (adjusted OR = 0.48, 95% CI = 0.25–0.95). No significant association was found between SNPs and the total serum IgE level. Conclusions: In a Han Chinese population, stratified by age and gender, susceptibility to mite-sensitized AR may be associated with 2 SNPs (rs1590 and rs17023107) in microRNA target sites of TGF-β signaling pathway genes. [ABSTRACT FROM AUTHOR]