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Background Most the HCC susceptible loci identified by GWAS are located in non-coding regions, and the mechanism of action remains unclear. The objective of this study was to explore the relationship among SNPs on lncRNA that affects ceRNA mechanism and the risk and prognosis of HCC. Methods In this study, combined with multiple databases, eight lncRNA genes that affect HCC were systematically screened through the mechanism of lncRNA-mediated ceRNA, and 15 SNPs that affect miRNA binding in the eight lncRNA genes were annotated. Genotyping was conducted in 800 HCC cases and 801 healthy controls from a Han population in Northeast China to examine the genetic risk associated with HCC. Results The GG, GC and GG + GC genotypes of HOTAIR rs7958904 were found to be associated with a 0.65, 0.59 and 0.63-fold decreased HCC risk, respectively. Moreover, in the stratified analysis of clinical characteristics, HCC patients with PVT1 rs3931282 AA + GA genotypes were less prone to develop late-stage tumors. When stratified by clinical biochemical indexes, rs1134492 and rs10589312 in PVT1 and rs84557 in EGFR-AS1 showed significant associations with AST, ALT or AST/ALT ratio. In addition, the potential ceRNA regulatory axes might be affected by the five positive SNPs were constructed to explain the causes of these genetic associations. Conclusions This first study demonstrated the association of SNPs on lncRNA -mediated ceRNAs with HCC. The results provide new insights of how non-coding loci confer the interindividual differences to susceptibility and progression of HCC.

Background: Men who have sex with men (MSM) are at high risk of HIV infection. Non-homologous end joining (NHEJ) pathway is the main way of double-stranded DNA break (DSB) repair in the higher eukaryotes, and can repair the DSB timely at any time in cell cycle. The objective of this study was to investigate the association of SNPs of the NHEJ pathway genes with susceptibility to HIV-1 infection and AIDS progression among MSM residing in northern China.Results: In the present study, a total of 481 HIV-1 seropositive men and 493 HIV-1 seronegative men were included. And genotyping of 22 SNPs in NHEJ pathway genes was performed using the SNPscanTM Kit. Our results disclosed significant associations of XRCC6 rs132770 and XRCC4 rs1056503 genotypes with susceptibility to HIV-1 infection. The generalized multifactor dimensionality reduction (GMDR) analysis found a significant SNP-SNP interaction between the XRCC6 and XRCC4 variants in the risk of HIV-1 infection. In stratified analysis, the positive effects of XRCC5 rs16855458 and LIG4 rs1805388 on the CD4+ T cell count and clinical phase of disease were validated.Conclusions: Our results confirmed that the NHEJ gene polymorphisms played an important role in HIV-1 infection and AIDS progression in the northern Chinese MSM population.

Background MSM has a high risk of HIV infection. Previous studies showed that the cell cycle regulation played an important role in HIV-1 infection, especially in G2/M checkpoint. The ATR, Chk1, Cdc25C and CDK1 are key genes in G2/M checkpoint. However, the association between the SNPs of these genes and susceptibility to HIV-1 infection and AIDS progression remains unknown. Results 42 tSNPs of G2/M checkpoint genes were genotyped to analyze the association between these tSNPs and susceptibility to HIV-1 infection and AIDS progression among MSM (529 HIV − 1 seropositive men and 529 HIV-1 seronegative men) in northern China. The results showed that rs34660854-A and rs75368165-A in ATR gene and rs3756766-A in Cdc25C gene could increase the risk of HIV-1 infection (P = 0.049, P = 0.020 and P = 0.010, respectively), and ATR rs75069062 and Chk1 rs10893405 were significantly associated with AIDS progression (P = 0.026 and P = 0.029, respectively). Besides, rs34660854 and rs75368165 in ATR gene, rs12576279 and rs540436 in Chk1 gene, rs3756766 in Cdc25C gene and rs139245206 in CDK1 gene were significantly associated with HIV-1 infection under different models (P

Background Prenatal intake of folic acid is important for prevention of nonsyndromic cleft lip with or without cleft palate (NSCL/P). Associated genes in folate pathway are major enzymes of folic acid metabolism that is crucial for preventing birth defects. The present study aims to investigate the association between four single nucleotide polymorphisms (SNPs) in folate pathway genes and the risk of NSCL/P. Methods Comprehensive bioinformatics analysis was used to predict the functional pathogenicity of genetic variation. The PubMed, Embase database and Google Scholar were intensively searched by two researchers to ascertain all relevant studies. Stata 11.0 software was used to analyze the results. Subgroup analysis was carried out to assess the influence of genetic background. Sensitivity analysis, regression analysis and publication analysis were also conducted to enhance the strength of our results. Results It is estimated that the probability of two missense mutation rs1801133 in MTHFR and rs1801394 in MTRR are more likely to be damaging by bioinformatics analysis. A total of 34 publications were included in the present study analysis. Our results showed a significant association between rs1801133 and risk of NSCL/P in two genetic models: TT allele vs CC allele (OR=1.333 95%CI=1.062-1.674, P =0.013), and recessive model (OR=1.325 95%CI=1.075-1.634, P =0.008). A significant association between rs1801394 and the risk of NSCL/P in Asian (GG allele vs AA allele, OR=0.520 95%CI=0.321-0.841, P =0.008) was also observed. Meta-regression, sensitivity analysis, and publication bias analysis confirmed that the results of the present study were statistically significant. Conclusions The present study highlights two SNPs rs1801133 in MTHFR and rs1801394 in MTRR, associated with the increasing risk of NSCL/P. Further, larger studies should be performed to confirm these findings.

Background Prenatal intake of folic acid is important for prevention of nonsyndromic cleft lip with or without cleft palate (NSCL/P), genes participant in folate pathway are crucial for preventing birth defects. The present study aims to investigate the associations between four single nucleotide polymorphisms (SNPs) in folate pathway genes and the risk of NSCL/P. Methods Prediction by bioinformatics was conducted to assess the function of genetic variation. The PubMed, Embase database and Google Scholar were searched by two researchers to identify all relevant studies. Stata 11.0 software was used to calculate the results. Subgroup analysis was conducted to assess the influence of the genetic background. Sensitivity analysis, regression analysis and publication analysis were conducted to improve the strength of the results. Results Two genetic variations rs1801394 in MTRR gene and rs1801133 in MTHFR were predicted damaging. A total of 34 publications were included in the present analysis. The results showed that there were a significant association between rs1801133 and NSCL/P risk in two genetic models TT allele vs CC allele (OR=1.333 95%CI=1.062-1.674, P=0.013) and recessive model (OR=1.325 95%CI=1.075-1.634, P=0.008) and there were a significant association between rs1801394 and NSCL/P risk in Asian (GG allele vs AA allele, OR=0.520 95%CI=0.321-0.841, P=0.008). Meta-regression, sensitivity analysis, and publication bias analysis confirmed that the results of the present study were statistically robust. Conclusions This present study suggests that rs1801133 of the MTHFR gene and rs1801394 of the MTRR gene are risk factors for NSCL/P. Additional, larger studies should be performed to confirm these findings.