The aberrant expression of CD45 isoforms and levels of sex hormones in systemic lupus erythematosus.

INTRODUCTION: Systemic lupus erythematosus (SLE) is a common autoimmune disease with significant gender bias in women, and sex hormones are considered to play an important role in the regulation of immune activity. The CD45 isoforms generated through alternative splicing of mRNA identify different functional status of lymphocytes and also are suggested as a biomarker for assessing the progression of SLE, while the modulation of CD45 expression in SLE patients is not clear. METHODS: In this study, the peripheral blood sera of 46 SLE patients and 15 health individuals were collected for detecting the levels of sex hormones and immune associated factors. The expression of CD45 isoforms and the status of CD45 DNA methylation of the peripheral mononuclear blood cells were detected by flow cytometry and bisulfite sequencing PCR, respectively. RESULTS: The levels of complement C3 and IgA decreased, especially decline of the serum IgA to the level of selective immunoglobulin A deficiency, and the C-reactive protein increased in SLE patients when compared with healthy controls, which manifested the abnormal immune activity of the SLE patients. Sex hormones detection showed a decreased testosterone and increased prolactin in SLE. An accelerated expression of CD45RO, reduced CD45RA and CD45RB, and a relative hypermethylation of CD45 DNA in SLE were also identified that provided a clue to explain the possible regulatory mechanism for the immune function in SLE. CONCLUSION: The results indicated that the aberrant CD45 isoforms, DNA methylation and hormone levels might be correlated with the imbalanced immune activity of SLE patients. Key Points • Selective immunoglobulin A deficiency was significantly higher in SLE than in healthy individuals. • SLE patients had decreased testosterone and increased prolactin in the sera. • An aberrant expression of CD45 isoforms and CD45 DNA methylation were identified in SLE.

Establishing and evaluating an auto-verification system of thalassemia gene detection results.

The manual verification of gene tests is time-consuming and error prone. In this study, we try to explore a high-efficiency, clinically useful auto-verification system for gene detection of thalassemia. A series of verification elements were rooted in the auto-verification system. Consistency check was applied initially as one of the essential elements in our study. One hundred twenty-four archived cases were used to choose the consistency-check rules' indices from routine blood examination and hemoglobin electrophoresis by the receiver operating characteristic curves. Rule 1 and rule 2 established by the chosen indices were compared by their passing rate, consistency with manual validation, and error rate. Finally, 748 cases were used for verifying the system's feasibility by evaluating the passing rate, turn-around time (TAT), and error rate. The rule 2 had a higher passing rate (67.7% vs. 50.8%) and consistency (0.623 vs. 0.364) than the rule 1 with an error rate of zero. In a "live" valuation, the auto-verification system can reduce the TAT and error rate of verification by 51.5% and 0.13%, respectively, with a high passing rate of 82.8%. The auto-verification system for gene detection of thalassemia in this study can shorten the validation time, reduce errors, and enhance efficiency.

Prevalence of hyperuricemia among the Chinese population of the southeast coastal region and association with single nucleotide polymorphisms in urate­anion exchanger genes: SLC22A12, ABCG2 and SLC2A9.

Genome­wide association studies identified that a series of genes, including solute carrier family (SLC) 2 member 9 (SLC2A9), SLC 22 member 12 (SLC22A12) and ATP­binding cassette sub­family G member 2 (ABCG2) polymorphisms were associated with serum uric acid (SUA) levels in the present study. High incidence rates of hyperuricemia were reported in the Chinese population of the southeast coastal region; however, no evidence has confirmed the genetic association with SUA levels in this region. The present study aimed to investigate the association between uric acid levels and hyperuricemia, and genotypes of the Chinese population of the southeast coastal region. In the present study, a total of 1,056 healthy patients attending routine checkups were employed to investigate the incidence of hyperuricemia; 300 subjects were then randomly selected from the 1,056 patients for the identification of genetic polymorphisms of SLC2A9rs11722228, SLC22A12rs893006 and ABCG2rs2231142 via high­resolution melting. The present study reported that the incidence rate of hyperuricemia was 32.6% (42.5% in males and 22.7% in females, respectively). The prevalence of ABCG2rs2231142 polymorphisms (CC, CA and AA) was 44.4, 44.8 and 11.8%, respectively; SLC2A9rs11722228 polymorphisms (CC, CT and TT) were reported to be 49.3, 40.3 and 10.3%, respectively. Additionally, SLC22A12rs893006 polymorphisms (CC, CT and TT) were determined to be 57.2, 38.7 and 4.1%, respectively. The SUA levels were observed to be statistically different among each investigated genotype of ABCG2rs2231142 (P=0.047). The A allele was significantly associated with an increased risk of hyperuricemia (odds ratio=2.405 and 1.133 for CA and AA, respectively). The present study reported that high incidence rates of hyperuricemia in the Chinese population of the southeast coastal region may be closely associated with the variants of ABCG2rs2231142. Whether polymorphisms of SLC2A9rs11722228 and SLC22A12rs893006 are involved in hyperuricemia require further investigation.