Objectives Tumor necrosis factor-α (TNF-α) may play an important role in host's immune response to mycobacterium tuberculosis (M. Tuberculosis) infection. This study was to investigate the association of TNF-α gene polymorphism with pulmonary tuberculosis (TB) among patients with coal worker's pneumoconiusis (CWP). Methods A case-control study was conducted in 113 patients with confirmed CWP complicated with pulmonary TB and 113 non-TB controls with CWP. They were matched in gender, age, job, and stage of pneumoconiosis. All participants were interviewed with questionnaires and their blood specimens were collected for genetic determination with informed consent. The TNF-α gene polymorphism was determined with polymerase chain reaction of restriction fragment length polymorphism (PCR-RFLP). Frequency of genotypos was assessed for Hardy-Weinberg equilibrium by chi-square test or Fisher's exact probability. Factors influencing the association of individual susceptibility with pulmonary TB were evaluated with logistic regression analysis. Gene-environment interaction was evaluated by a multiplicative model with combined OR. All data were analyzed using SAS version 8.2 software. Results No significant difference in frequency of the TNF-α-308 genotype was found between CWP complicated with pulmonary TB and non-TB controls (2,2=5.44,P=0.07). But difference in frequency of the TNF-α-308 A allele was identified between them (X2=5.14, P=0.02). No significant difference in frequencies of the TNF-α-238 genotype and allele (P=0.23 and P=0.09, respectively) was found between cases and controls either, with combined (GG and AA) OR of 3.96 (95% confidence interval of 1.30～12.09) at the -308 locus of the TNF-α gene, as compared to combination of the TNF-α-238 GG and TNF-α-308 GG genotypes. Multivariate-adjusted odds ratio of the TNF-α-238 GG and TNF-α-308 GA genotypos was 1.98 (95% CI of 1.06～3.71) for risk for pulmonary TB in patients with CWP. There was a synergic interaction between the TNF-α-308 GG genotype and body mass index (OR=4.92), as well as an interaction between the TNF-α-308 GG genotype and history of BCG immunization or history of TB exposure. And, the interaction of the TNF-α-238 GG genotype and history of BCG immunization or TB exposure with risk for pulmonary TB in them was also indicated. Conclusions TNF-α-308 A allele is associated with an elevated risk for pulmnonary TB, whereas TNF-α-238 A allele was otherwise.

The association of gene polymorphism and susceptibility to hepatocellular carcinoma (HCC) has been widely studied in recent years. Gene mutations are closely related to HCC. Understanding and measuring the gene mutations are useful to reduce the incidence of HCC and improve its prognosis.

OBJECTIVE: To evaluate the association of X-ray cross-complementing group 1 (XRCC1) Arg399Gln, Arg194Trp and Arg280His polymorphisms with the risk of glioma. DATA SOURCES:A systematic literature search of papers published from January 2000 to August 2012 in PubMed, Embase, China National Knowledge Infrastructure database, and Wanfang da-tabase was performed. The key words used were“glioma”,“polymorphism”, and“XRCC1 or X-ray repair cross-complementing group 1”. References cited in the retrieved articles were screened manual y to identify additional eligible studies. STUDY SELECTION: Studies were identified according to the fol owing inclusion criteria:case-control design was based on unrelated individuals;and genotype frequency was available to estimate an odds ratio (OR) and 95%confidence interval (CI). Meta-analysis was performed for the selected studies after strict screening. Dominant and recessive genetic models were used and the relationship between homozygous mutant genotype frequencies and mutant gene frequency and glioma incidence was investigated. We chose the fixed or random effect model according to the heterogeneity to calculate OR and 95%CI, and sensitivity analyses were conducted. Publication bias was examined using the inverted funnel plot and the Egger’s test using Stata 12.0 software. MAIN OUTCOME MEASURES: Association of XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms with the risk of glioma, and subgroup analyses were performed according to differ-ent ethnicities of the subjects.
RESULTS:Twelve articles were included in the meta-analysis. Eleven of the articles were concerned with the Arg399Gln polymorphism and glioma onset risk. Significantly increased glioma risks were found only in the dominant model (Gln/Gln+Gln/Arg versus Arg/Arg:OR=1.26, 95%CI=1.03-1.54, P=0.02). In the subgroup analysis by ethnicity, significantly increased risk was found in Asian subjects in the recessive (OR = 1.46, 95%CI = 1.04-2.45, P = 0.03) and dominant models (OR = 1.40, 95%CI = 1.10-1.78, P =0.007), and homozygote contrast (OR=1.69, 95%CI=1.17-2.45, P=0.005), but not in Caucasian sub-jects. For association of the Arg194Trp (eight studies) and Arg280His (four studies) polymorphisms with glioma risk, the meta-analysis did not reveal a significant effect in the al ele contrast, the recessive genetic model, the dominant genetic model, or homozygote contrast. CONCLUSION: The XRCC1 Arg399Gln polymorphism may be a biomarker of glioma susceptibility, es-pecial y in Asian populations. The Arg194Trp and Arg280His polymorphisms were not associated with overal glioma risk.

Identification of susceptibility to acute mountain sickness by detecting vascular tone using a photoplethysmographic sensor