Haplotype analysis of long-chain non-coding RNA NONHSAT102891 promoter polymorphisms and depression in Chinese individuals: A case-control association study.

BACKGROUND: Our previous study reported that the single-nucleotide polymorphism (SNP) rs155979 GC in the promoter region of long-chain non-coding RNA (lncRNA) NONHSAT102891 affects depression susceptibility in a Chinese population. AIM: To explored associations of two SNPs and haplotypes in the lncRNA NONHSAT102891 promoter region with depression susceptibility in Chinese population. METHODS: This this case-control association study was approved by the Ethics Committee of Chengdu Medical College (approval number: 201815). Patient diagnosis was based on DSM-IV criteria. We selected a total of 480 patients with depression and 329 healthy controls with no history of psychopathology, and performed genotyping of two SNPs by extracting peripheral venous blood samples from the subjects. The function of the two lncRNA NONHSAT102891 promoter G/C and A/T haplotypes was detected by dual-luciferase reporter assays of human embryonic kidney 293T transfected cells. RESULTS: Stratified analysis of clinical and genotypic characteristics of our cohort showed that the degree of mild depressive episodes associated with the rs6230 TC/CC genotype increased by 1.59 times [TC/CC vs TT: odds ratio (OR) = 1.59, 95% confidence interval (CI): 1.08-2.35, P = 0.019]. The haploid analysis revealed linkage disequilibrium between rs3792747 and rs6230, and the double SNP CG haplotype was more common in the control group compared to case group, indicating that this haplotype significantly reduced the risk of depression (C/G vs T/A: OR = 0.42, 95%CI: 0.21-0.83, P = 0.01). There was no significant difference in the dual-luciferase reporter activity of the G/C and A/T haplotypes compared with the control group (P > 0.05), indicating that the double SNP haplotype has no transcriptional activity. CONCLUSION: The rs3792747 and rs6230 CG haplotypes of the lncRNA NONHSA T102891 promoter may be related to a reduced risk of depression in the Han Chinese population.

[Relationship among pathological changes in Liver tissues and level of serum HBV DNA, HBeAg and ALT of 194 patients with chronic hepatitis B].

OBJECTIVE: To study the relationships among pathological and immunohistochemical changes in liver tissues, and the HBeAg, HBV DNA, ALT level in the patients with chronic hepatitis B. METHODS: Pathological and immunohistochemical examinations of liver tissue liver function tests, serum HBV and HBV DNA detection were performed in 194 patients with chronic hepatitis B. RESULTS: There was significant difference between the serum HBeAg positive group and the negative group in G2, G3-4 S2, S3-4 in liver tissues; The serum HBV DNA level of the groups S0 and S1-4, and the hepatic activity index between the groups G0-1 and G2-4 were significantly different. And the hepatic HBcAg positive group and HBcAg negative group were significantly different too. There was no significant difference between the HBsAg level in liver tissues as "+" group and the "++ - +++" group. The pathological diagnosis as S1 or (and) G2 is respectively 28.57%, 53.33%, 80.15%, 77.88% among the four groups with normal-mild-moderate-severe elevated serum ALT level. CONCLUSION: Serum HBV DNA correlated with HBcAg expression in liver tissue; the HBsAg level in liver tissues have no relationship with the serum HBV DNA level. The patients with low serum HBV DNA level may have high index of hepatic activity and hepatic fibrosis. Asymptomatic carriers and patients with low serum ALT level should be encouraged to accept liver biopsy. It can determine the degree of liver inflammation and fibrosis and timing of treatment.

Association of two polymorphisms of tumor necrosis factor gene with acute biliary pancreatitis.

AIM: To investigate TNF-alpha-308 and TNFB polymorphisms in acute biliary pancreatitis (ABP) and to related them to the plasma TNF-alpha levels. METHODS: Genomic DNA was prepared from peripheral blood leukocytes. Genotypes and allele frequencies were determined in patients (n=127) and healthy controls (n=102) using restriction fragment length polymorphism analysis of polymerase chain reaction (PCR) products. Reading the size of digested bands from polyacrylamide gel demonstrated the two alleles TNF1 and TNF2, or the two alleles TNFB1 and TNFB2. RESULTS: The frequencies of TNF2 polymorphism and TNFB2 polymorphism were both similar in patients with mild or severe pancreatitis, so were in pancreatitis patients and in controls. Patients with septic shock showed a significantly higher prevalence of the TNF2 than those without. No significant differences were found in the genotype distribution of TNF-alpha-308 and TNFB among different groups. Plasma TNF-alpha levels did not differ significantly in ASBP patients displaying different alleles of the TNF gene studied. CONCLUSION: Results indicate that TNF gene polymorphisms studied play no part in determination of disease severity or susceptibility to acute biliary pancreatitis; however, TNF2 polymorphism is associated with septic shock from ASBP. Genetic factors are not important in determining plasma TNF-alpha levels in ASBP.

[The associations of the single nucleotide polymorphisms on TNF and CD14 promoters with the mortality of infection, systematic inflammatory response syndromec and sepsis in surgical patients].

OBJECTIVE: To investigate the association of Single nucleotide polymorphism (SNPs) tumor necrosis factor (TNF) and CD14 promoter with the systematic inflammatory response syndromec (SIRS) and sepsis in surgical patients. METHODS: The DNA and RNA sample of PBMC from 113 patients, 40 of them being complicated with sepsis, and 100 healthy volunteers were extracted. The SNP genotypes of TNF-alpha -308 G/A, -863 C/A, CD14-159C/T and TNFB1/B2 were examined by restriction fragment length polymorphism PCR (PCR-RFLP). The expressions of TNF-alpha mRNA of PBMC in parts of the patients who have at least one genotype of SNP were detected by RT-PCR. The risks for sepsis associated with polymorphisms in the TNF-alpha or CD14 promoter were determined by multivariate analysis. RESULTS: The rates of TNF2, -863A, CD14-159T alleles were 15%, 32.5%, and 40% respectively in patients with sepsis, significantly higher than those in the patients with SIRS (8.9%, 22%, and 23.3%), and those in the healthy volunteers (5%, 16% and 26%). The expression of TNF-alpha mRNA was much higher in those patients with at least one kind of SNP than those without SNP. CONCLUSION: The A-allele at the -308 and -863 position in the TNF-alpha promoter and the T-allele at the -159 position in the CD14 promoter increase the risk for sepsis. The effect of SNP genotypes on TNF-alpha expression can modulate inflammatory response.