Genetic polymorphisms of rs12437118 in ESRRB locus associated with tuberculosis susceptibility in a Chinese Han population

Abstract: ESRRB (Estrogen Related Receptor Beta) plays a crucial role in stem cells self-renewal, naïve pluripotency, and early development of the embryo via participating in regulation of chromatin remodeling. The objective was to investigate whether rs12437118 in ESRRB locus was associated with tuberculosis susceptibility in a Chinese Han cohort. A total of 607 TB patients and 660 healthcare workers were enrolled for this study. ESRRB rs12437118 polymorphisms genotyping was performed by competitive allele-specific PCR (KASP) assay. ESRRB plasma expression level was detected by enzyme linked immunosorbent assay (ELISA). Logistic regression was used to calculated odds ratios (ORs) and 95% confidence intervals (CIs). Genotype GA showed a decreased risk of TB (P = 0.014, OR = 0.745, 95%CI: 0.59–0.94). No association with TB risk was found for other genotypes and any genetic model. ESRRB expression lower in TB patients than in healthy controls, but no association was found between ESRRB expression level in plasma and different genotypes of rs12437118. Our results demonstrated that genotype GA of rs12437118 decreased risk of TB in a Han cohort in North of China.