Background Rheumatoid arthritis (RA), an autoimmune systemic inflammatory disease, largely resulted from genetic factor. Our purpose was to explore the association for IL1R1 and IL1R2 genetic variants with RA susceptibility in the Chinese Han population. Patients and Methods A total of 508 RA patients and 494 controls were involved in this case–control study; single-nucleotide polymorphisms (SNPs) genotyping was identified by the Agena MassARRAY platform. The relationship between polymorphisms and RA susceptibility was calculated using the Pearson’s Chi-square test with odds ratios and 95% confidence intervals (CIs) in multiple genetic models. The Pearson’s Chi-square test and Student’s t -test were used for sample basic characteristic analysis. And linkage disequilibrium (LD) analysis and haplotype analysis were performed by logistic regression analysis. Results The result from this study showed that rs2072472 ( IL1R2 ) was an increased risk factor of RA (adjusted OR = 1.41, p = 0.011). Stratified analysis indicated SNPs rs10490571, rs956730, rs3917318 of IL1R1 , and SNPs rs4851527, rs719250, rs3218896, rs3218977, rs2072472 of IL1R2 had impacts on RA risk after stratification based on gender and average age (54 years). Finally, haplotype analysis revealed that A rs3218977 A rs2072472 haplotype in IL1R2 was related to a decreased RA risk (adjusted OR = 0.79; 95% CI = 0.65–0.94; p = 0.010). Yet, rs3917225( IL1R1 ) and rs11674595( IL1R2 ) were not significant in RA association analysis. Conclusion We determined SNPs (rs3917318, rs956730, rs1049057) of IL1R1 and SNPs (rs3218977, rs719250, rs4851527, rs3218896, rs2072472) of IL1R2 were correlated with the RA susceptibility in the Chinese Han population.

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Background Genetic variation influences drug reaction or adverse prognosis. The purpose of this research was to genotype very important pharmacogenetic (VIP) variants in the Tibetan population. Methods and Materials Blood samples from 200 Tibetans were randomly collected and 59 VIP variants were genotyped, and then compared our data to 26 other populations in the 1000 project to further analyze and identify significant difference. Results The results showed that on comparing with most of the 26 populations from the 1000 project, rs4291 ( ACE ), rs1051296 ( SLC19A1 ) and rs1065852 ( CYP2D6 ) significantly differed in the Tibetan population. Furthermore, three significant loci were related to drug response. In addition, the allele frequency of Tibetans least differed from that of East Asian populations, and most differed from that of Americans. Conclusion Three significant loci of variation ACE rs4291, SLC19A1 rs1051296 and CYP2D6 rs1065852 were associated with drug response. This result will contribute to improving the information of the Tibetan in the pharmacogenomics database, and providing a theoretical basis for clinical individualised drug use in Tibetans.

Abstract Background: LOC105371267 (also known as PR-lncRNA1) was reported to be a p53-regulated lncRNA, which played essential roles in the pathogenesis of breast cancer (BC). We aimed to investigate the potential associations between LOC105371267 polymorphisms and BC risk. Method: Totally, 555 healthy individuals and 561 BC patients were recruited. Five candidate SNPs of LOC105371267 were genotyped with Agena MassARRAY system. Odds ratio (OR) and 95% confidence intervals (CIs) were applied to evaluate the relationship of LOC105371267 with BC susceptibility. Additionally, stratification analyses based on clinical features and haplotype analysis were also conducted. Results: A decreased BC risk was observed rs3931698 GG genotype (OR = 0.30, P = 0.018) and recessive genetic model (OR = 0.30, P = 0.021). Stratified analysis with age also revealed that this SNP was associated with a lower risk at age < 52 years. Meanwhile, multiple clinical characteristics, including ER and PR status and stage were all correlated with SNPs rs6499221, rs3931698, rs3852740 and rs8044565.Conclusion: Four LOC105371267 SNPs (rs6499221, rs3931698, rs8044565 and rs3852740) were found to be correlated with development of BC. Additionally, ER, PR, and stage were also linked to LOC105371267 polymorphisms, providing novel diagnostic and therapeutic targets for of BC management.

Purpose LRRC3B gene, as a tumor suppressor gene was involved in the development and progress of breast cancer (BC). However, the effect of LRRC3B polymorphisms on BC has rarely been reported. In the study, we aims to evaluate the relation between LRRC3B variants and BC risk. Methods Among 563 BC patients and 552 healthy controls, ten single-nucleotide polymorphisms (SNPs) in LRRC3B were genotyped by Agena MassARRAY. Odds ratios (OR) and 95% confidence interval (CI) was calculate using logistic regression model. Results Our study demonstrated that rs1907168 polymorphism (OR = 0.71, p = 0.017) reduced the risk of BC in the overall. In stratified analyses by age, rs1907168 decreased (OR = 0.53, p = 0.002) while rs78205284 (OR = 2.83, p = 0.034) increased BC susceptibility among the population at age ≤ 51 years. Clinical parameters such as tumor size, the status of PR and Ki67 were associated with LRRC3B variants. Furthermore, we found that the association of ‘GATT’ haplotype with an increased risk for BC. In addition, LRRC3B gene was down-regulated in BC tumor and had a poor prognosis in BC in silico analysis. Conclusion Our study firstly found LRRC3B SNPs contributed to the risk of BC, suggesting LRRC3B variants might help to predict BC progression.