Background
Lupus nephritis is a common complication of systemic lupus erythematosus (SLE, OMIM #15200) in the Asian population and a main contributor to mortality and morbidity. In this study, we evaluate the variants on three genes STAT4, CDKN1A, and IRF5 and their association with lupus nephritis.
Method
One hundred fifty‐two SLE patients with confirmed lupus nephritis (through biopsy) and 76 healthy controls were recruited. Genotyping of SNPs on three gene STAT4, CDKN1A, and IRF5, phenotypic, and laboratory assessment were performed; renal biopsy and classification were carried out for the patient group.
Results
Carriers of rs7582694 C alleles on STAT4 have higher risk of lupus nephritis (OR 2.0; 95% CI [1.14, 3.19]; p = 0.015), at higher risk of hematuria and higher serum level of dsDNA antibodies compared to controls (p < 0.05) and were more likely to have nephrotic histopathology grading of class III or higher. No association was observed for CDKN1A; and no variation was observed for the IRF5 gene in both the study and control group.
Conclusion
This study investigates the relationship between STAT4, CDKN1A, and IRF5 gene and SLE in a Vietnamese patient population. Patients with the C allele (STAT4) in rs7582694 were associated with a more severe disease phenotype.
Ovarian cancer is one of the most common gynecological malignancies. The gene RAD51involves homologous recombinational repair for double-strand breaks of DNA, so its polymorphisms and mutations are associated with cancer risk. The authors studied, by using a case-control design, whether single nucleotide polymorphism rs1801321 of RAD51 gene associated with ovarian cancer risk among Vietnamese females. Sample sets included 380 ovarian cancer cases and 380 healthy controls of similar age distribution. The genotypes of rs1801321 polymorphism were determined using the Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The distribution of genotype GG, GT, TT was 55.3, 29.2, 15.5% for the patients group and 47.9, 41.8, 10.3% for the control group, respectively (p=0.001). The RAD51 rs1801321 polymorphism was associated with the risk of ovarian cancer among Vietnamese females.
The TERT gene encodes its catalytic subunit that is essential for telomere length at the chromosome ends. The expression of TERT is highly associated with the risk of human cancers. Recurrent mutations in the promoter of the TERT gene are identified as a mechanism to activate telomerase in cancer. This study aims to determine the rate of TERT promoter mutations in hepatocellular carcinoma (HCC) tissue samples and the association between the TERT promoter mutations and some risk factors of HCC. The study was conducted on 84 patients diagnosed with HCC by pathological surgery. Gene sequencing technique was used to identify TERT promoter mutations. Results exhibited 21 samples (25%) carried TERT promoter mutation at -124C>T site and no mutation at -146C>T site. At the same time, there was no association between -124C>T mutation and risks of HCC found in this study.
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