ABSTRACT. The aim of the research was to examine the expression level of microRNA221/222 (miR-221/222) in the serum of patients with type 2 diabetes mellitus (T2DM) who are also diagnosed with post-menopausal breast cancer. We aimed to evaluate the differences in microRNA expression in patients with T2DM alone, patients with postmenopausal breast cancer alone, and patients with both T2DM and postmenopausal breast cancer. We selected 20 cases from a healthy control group, 30 cases from the group of patients with T2DM and obesity, 30 cases from the group of the patients with post-menopausal breast cancer, and 30 cases from the group of patients with both T2DM and post-menopausal breast cancer. The expression of miR-221/222 in the serum of the patients with post-menopausal breast cancer was higher than that of T2DM patients (P < 0.05), but lower than that of the T2DM patients who were also positive for post-menopausal breast cancer (P < 0.05); the expression of miR-221/222 in the serum of the T2DM patients was higher than that of the healthy controls (P < 0.05). BMI, HOMA-IR, HbA1c, and TG were positively correlated with the relative expression of miR-221/222 in the serum (P < 0.01). In conclusion, miR-
ObjectiveTo evaluate the association between single-nucleotide polymorphisms (SNPs) in RNA-seq identified mRNAs and silicosis susceptibility.MethodsA comprehensive RNA-seq was performed to screen for differently expressed mRNAs in the peripheral blood lymphocytes of eight subjects exposed to silica dust (four silicosis cases and four healthy controls). Following this, the SNPs located on the shortlisted mRNAs, which may affect silicosis susceptibility, were screened through silicosis-related genome-wide association studies (GWAS) (155 silicosis cases and 141 healthy controls), whereas functional expression quantitative trait locus (eQTL)-SNPs were identified using the GTEx database. Finally, the association between functional eQTL-SNPs and silicosis susceptibility (194 silicosis cases and 235 healthy controls) was validated.ResultsA total of 70 differentially expressed mRNAs (fold change > 2 or fold change < 0.5, P < 0.05) was obtained using RNA-seq. Furthermore, 476 SNPs located on the shortlisted mRNAs, which may affect silicosis susceptibility (P < 0.05) were obtained using GWAS, whereas subsequent six functional eQTL-SNPs were identified. The mutant A allele of rs9273410 in HLA-DQB1 indicated a potential increase in silicosis susceptibility in the validation stage (additive model: odds ratio (OR)= 1.31, 95% confidence interval (CI) = 0.99–1.74, P = 0.061), whereas the combination of GWAS and the validation results indicated that the mutant A allele of rs9273410 was associated with increased silicosis susceptibility (additive model: OR = 1.35, 95% CI =1.09–1.68, P = 0.006).ConclusionThe mutant A allele of rs9273410 was associated with increased silicosis susceptibility by modulating the expression of HLA-DQB1.
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