Behavioral Trait of Morningness-Eveningness in Association with Articular and Spinal Diseases in a Population

Earlier studies have revealed that the more the preference to schedule daily activities towards the evening hours is, the higher the odds for a range of health hazards are. Therefore, we wanted to analyze, whether the behavioral trait of morningness-eveningness is associated with articular and spinal diseases or those with musculoskeletal disorders. Participants (n = 6089), as part of the National FINRISK 2007 Study, were derived from the general population, aged 25 to 74 years, living in Finland. Chronotype was assessed based on six items from the original Horne-Östberg Morningness-Eveningness Questionnaire. Information about risk factors and the diagnoses of articular and spinal diseases were based on the self-reported information. Our results suggest that Evening-types have higher odds for articular and spinal diseases as compared with Morning-types, and this risk is heightened especially regarding spinal disease and backache (odds ratios of 1.8 to 2.1, and 1.6 to 1.8, respectively) and remains significant after controlling for the sex, age, education, civil status, physical activity, alcohol use, and smoking, and additionally for the body-mass index, insufficient sleep, or depressive symptoms.     

DNA repair genes polymorphism and lung cancer risk with the emphasis to sex differences

Polymorphisms in nucleotide and base excision repair genes are associated with the variability in the risk of developing lung cancer. In the present study, we investigated the polymorphisms of following selected DNA repair genes: XPC (Lys939Gln), XPD (Lys751Gln), hOGG1 (Ser326Cys) and XRCC1 (Arg399Gln), and the risks they present towards the development of lung cancer with the emphasis to gender differences within the Slovak population. We analyzed 761 individuals comprising 382 patients with diagnosed lung cancer and 379 healthy controls. Genotypes were determined by polymerase chain reaction/restriction fragment length polymorphism method. We found out statistically significant increased risk for lung cancer development between genders. Female carrying XPC Gln/Gln, XPC Lys/Gln+Gln/Gln and XRCC1 Arg/Gln, XRCC1 Arg/Gln+Gln/Gln genotypes had significantly increased risk of lung cancer corresponding to OR = 2.06; p = 0.04, OR = 1.66; p = 0.04 and OR = 1.62; p = 0.04, OR = 1.69; p = 0.02 respectively. In total, significantly increased risk of developing lung cancer was found in the following combinations of genotypes: XPD Lys/Gln+XPC Lys/Lys (OR = 1.62; p = 0.04), XRCC1 Gln/Gln+hOGG1 Ser/Ser (OR = 2.14; p = 0.02). After stratification for genders, the following combinations of genotype were found to be significant in male: XPD Lys/Gln+XPC Lys/Lys (OR = 1.87; p = 0.03), XRCC1 Arg/Gln+XPC Lys/Lys (OR = 4.52; p = 0.0007), XRCC1 Arg/Gln+XPC Lys/Gln (OR = 5.44; p < 0.0001). In female, different combinations of the following genotypes were found to be significant: XRCC1 Arg/Gln+hOGG1 Ser/Ser (OR = 1.98; p = 0.04), XRCC1 Gln/Gln+hOGG1 Ser/Ser (OR = 3.75; p = 0.02), XRCC1 Arg/Gln+XPC Lys/Gln (OR = 2.40; p = 0.04), XRCC1 Arg/Gln+XPC Gln/Gln (OR = 3.03; p = 0.04). We found out decreased cancer risk in genotype combinations between female patients and healthy controls: XPD Lys/Lys+XPC Lys/Gln (OR = 0.45; p = 0.02), XPD Lys/Gln+XPC Lys/Lys (OR = 0.32; p = 0.005), XPD Lys/Gln+XPC Lys/Gln (OR = 0.48; p = 0.02). Our results did not show any difference between pooled smokers and non-smokers in observed gene polymorphisms in the association to the lung cancer risk. However, gender stratification indicated the possible effect of heterozygous constitution of hOGG1 gene (Ser/Cys) on lung cancer risk in female non-smokers (OR = 0.20; p = 0.01) and heterozygous constitution of XPC gene (Lys/Gln) in male smokers (OR = 2.70; p = 0.01).     

Prognostic factors in infective endocarditis in general hospitals in the Netherlands

Introduction

Despite advances in treatment, infective endocarditis (IE) still ranks amongst the most lethal infectious diseases. We sought to determine prognostic factors in general hospitals in the Netherlands as research in this setting is scarce.

Results

Between 2004 and 2011, we identified 216 cases of IE, 30.1?% of which were prosthetic valve IE. This leads to an annual incidence of IE of 5.7 new cases per 100,000 persons per year. Women were less likely to undergo surgical intervention (OR = 1.96, 95?% CI 1.06–3.61, p = 0.031). Also, ageing was an independent prognostic factor for not receiving surgery in a multivariate analysis (annual OR = 1.04, 95?% CI 1.02–1.06, p < 0.001). Female sex was a prognostic factor for mortality (OR = 2.35, 95?% CI 1.29–4.28, p = 0.005). Age was also an independent prognostic factor for mortality (OR = 1.05, 95% CI 1.03–1.08, p < 0.001). Conservative treatment was a prognostic factor for mortality (OR = 3.39, 95?% CI 1.80–6.38, p < 0.001) whereas surgical intervention was an independent prognostic factor for adverse events (OR = 3.03, 95% CI 1.64–5.55, p < 0.001). Staphylococcus aureus was an independent prognostic factor for adverse events (OR = 2.05, 95?% CI 1.10–3.84, p = 0.024) but not for mortality.

Conclusion

This study shows that endocarditis in general hospitals has a high rate of morbidity and mortality. Even when treated, it ranks as one of the most lethal infectious diseases in the Netherlands, especially in women and the elderly.

     

Offspring sex ratio in sheep,cattle, goats and pigs: influence of season and lunar phase at conception

This study assessed the relationship between season and lunar phase at conception on offspring sex ratio of four livestock species (sheep, cattle, goats and pigs). The sex of 66,830 lambs (1995–2015); 25,546 calves (2011–2015); 5671 kids (2002–2007) and 1916 piglets was recorded. Moon phases were categorized as either new moon, crescent moon, full moon or decrescent moon. Sex ratio, expressed as proportion of males (males/males + females), was tested against the expected value of 1:1. In sheep, offspring sex ratio and lunar phase were not correlated; season had a significant (p = 0.002) effect on offspring sex ratio. The proportion of males born of spring and winter matings was significantly higher than it was among offspring born of summer (p < 0.05) or autumn (p < 0.01) conceptions. Offspring sex ratios in spring (p < 0.05), autumn (p < 0.01) and winter (p < 0.05) differed significantly from the expected. In cattle, moon phase and season did not affect the offspring sex ratio; however, the interaction effect was highly significant (p = 0.001). The overall piglet sex ratio (0.522), and the sex ratios among piglets conceived during a crescent moon and those conceived in summer differed significantly (p < 0.05) from 1:1. Research including additional factors such as hormonal treatments prior to insemination, food availability, weather and maternal and paternal factors might provide the underlying reasons for the effects of season and moon phase on offspring sex ratio in some livestock species.     

Identification of HAVCR1 gene haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases

Human HAVCR1 gene maps on 5q33.2, a region linked with susceptibility to allergic and autoimmune diseases. The aims of the present study were to define the haplotypes of HAVCR1 gene taking into account both HapMap Project SNP haplotypes and exon 4 variants, to investigate a possible relationship between these haplotypes and mRNA expression levels, and to assess whether HAVCR1 gene is involved in susceptibility to rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Genotyping of three ins/del variants in the exon 4 was performed by fragment length analysis. Five tag SNPs genotypes and mRNA levels were determined using TaqMan assays. We defined four major haplotypes in our population: the two major haplotypes (named haplotypes A and B) bear both the 5383_5397del variant and the two most common SNP sets found in the CEU population. Quantification analysis revealed that genotype B/B had the highest median of mRNA expression levels (vs. BX + XX, p < 0.0001). Additionally, frequency of the genotype BB was significantly higher in RA patients than in controls (12.3 vs. 5.9% in controls, p = 0.0046, p _c = 0.014, OR = 2.23, 95% CI 1.23–4.10). Our results support a relationship between HAVCR1 haplotypes and mRNA expression levels, and suggest an association of this gene with autoimmune diseases.     

Comparative Efficacy and Safety of Drug-Eluting Stent and Conventional Therapies in Coronary Heart Disease Patients with In-Stent Restenosis: A Meta-Analysis

We performed a meta-analysis to compare therapeutic outcome/safety of drug-eluting stent (DES) and conventional in-stent restenosis (ISR) treatments. We browsed through large volume of clinical data by searching MEDLINE, EMBASE, Cochrane central register of controlled trials, and EBSCO databases. In this study, 11 randomized controlled trials, 17 non-randomized controlled trials, 6,330 patients, and 6,662 lesions were included. Clinical and coronary angiography follow-up for 6–16 months was included. The major outcomes were target lesion revascularization (TLR) and major adverse cardiac events (MACE). We found that DES showed advantage in TLR (OR = 0.46; 95 % CI: 0.34, 0.62; P < 0.00001), MACE (OR = 0.51; 95 % CI: 0.34, 0.77; P = 0.001), Late Lumen Loss (IV = ?0.30; 95 % CI: ?0.44, ?0.15; P < 0.0001), stenosis of lumen diameter (OR = ?17.45; 95 % CI: ?23.69, ?11.21; P < 0.00001), and restenosis (OR = 0.26; 95 % CI: 0.17, 0.40; P < 0.00001) over conventional ISR treatment. Regarding cardiac death (OR = 0.80; 95 % CI: 0.55, 1.17; P = 0.25), myocardial infarction (OR = 1.00;95 %CI: 0.66, 1.51; P = 1.00) and late thrombosis (OR = 0.70; 95 % CI: 0.42, 1.17; P = 0.18), there was no significant difference between different treatments. We, therefore, concluded that in treating percutaneous coronary intervention–ISR, DES was more effective in reducing incidence of TLR, MACE, and restenosis, and decreasing severity of late lumen loss/stenosis of lumen diameter compared with bare metal stent, percutaneous transluminal coronary angioplasty, intracoronary brachytherapy, and cutting balloon treatments. There was no significant difference between DES and conventional therapy for ISR. As suggested by current statistical analysis, DES after ISR did not involve a higher incidence of cardiac death, myocardial infarction, and thrombosis.     

Effect of CDKN2A/B rs4977756 polymorphism on glioma risk: a meta-analysis of 16 studies including 24077 participants

So far, epidemiological studies have been performed to investigate the association of CDKN2A/B rs4977756 polymorphism and glioma risk. However, the results from different studies remain inconsistent. To clarify these conflicts and to quantitatively evaluate the effect of rs4977756 polymorphism on glioma risk, a meta-analysis was conducted using relevant published clinical studies about rs4977756 polymorphisms and glioma risk. Relevant studies concerning the association between rs4977756 polymorphism and risk of glioma were included in this meta-analysis. Odds ratio (OR) and 95 % confidence interval (CI) were calculated under fixed or random effects models when appropriate. Subgroup analyses were performed by race. This meta-analysis included 13 studies with a total of 8129 cases and 15,858 controls. The pooled results showed that there was an obvious association of CDKN2A/B rs4977756 polymorphism with risk of glioma in all four comparison models (dominant model/AG + GG vs. AA: OR = 1.36, 95 %CI = 1.20–1.54, p < 0.01; heterozygote comparison/AG vs. AA: OR = 1.31, 95 %CI = 1.12–1.53, p < 0.01; homozygote comparison/GG versus AA: OR = 1.49, 95 %CI = 1.36–1.64, p < 0.01; additive model/G vs. A: OR = 1.23, 95 %CI = 1.18–1.28, p < 0.01, respectively). For the subgroup analyses of ethnicities, similar results were observed in Caucasians. However, the association was not found between rs4977756 polymorphism and the risk of glioma in all models for the Asian studies. The CDKN2A/B rs4977756 polymorphism is obvious increase the risk of glioma in Caucasians. Future studies are needed to confirm the results in other ethnic populations.     

Application of the Hands-On Donkey Tool for Assessing the Welfare of Working Equids at Tuliman,Mexico

Equids are still used for diverse chores in Mexico and are essential for the livelihoods of numerous families. Appropriate health and behavior are prerequisites for performing work without affecting welfare. This study aimed to assess the welfare of working equids in Tuliman, applying the hands-on donkey tool. This tool evaluates five dimensions (behavior, body condition score [BCS], wounds, lameness, and other health issues) and was applied to 438 working equids (horses, mules, and donkeys). The Kruskall-Wallis test was applied to investigate differences between species and sex. Donkeys were more common; they also presented more positive behaviors and less lameness (p < 0.05). No differences were found for BCS among species on a scale ranging from 1 to 5 (mean BCS for donkeys = 1.9; mules = 2; and horses = 1.8). Mares had significantly lower BCS (mean = 1.5) than stallions (p < 0.05) and geldings (mean = 1.9). Overall mules had better welfare evaluations. The tool allowed detection of welfare issues in working equids; a practical outcome would be implementing local welfare strategies according to its results.     

Genetic polymorphisms in VDR,ESR1 and ESR2 genes may contribute to susceptibility to Parkinson’s disease: a meta-analysis

We conducted this meta-analysis of relevant case–control studies to investigate the relationships between genetic polymorphisms in VDR, ESR1 and ESR2 genes to the susceptibility of Parkinson’s disease (PD). A search on electronic databases without any language restrictions was conducted: MEDLINE (1966–2013), the Cochrane Library Database (Issue 12, 2013), EMBASE (1980–2013), CINAHL (1982–2013), Web of Science (1945–2013) and the Chinese Biomedical Database (1982–2013). Meta-analysis was performed using the STATA statistical software. Crude odds ratio (OR) with their 95 % confidence interval (95 % CI) was calculated. Fourteen case–control studies with a total of 3,689 PD patients and 4,627 healthy subjects were included in our meta-analysis. The results of our meta-analysis demonstrated that the VDR genetic polymorphisms might be closely related to increased risks of PD (allele model: OR = 1.18, 95 % CI 1.09–1.29, P < 0.001; dominant model: OR = 1.37, 95 % CI 1.16–1.63, P < 0.001; respectively), especially for the polymorphisms rs7976091 and rs10735810. Our findings also illustrated that ESR1 genetic polymorphisms might increase the risk of PD (allele model: OR = 1.56, 95 % CI 1.17–2.07, P = 0.002; recessive model: OR = 1.93, 95 % CI 1.33–2.80, P < 0.001; homozygous model: OR = 1.35, 95 % CI 1.02–1.79, P = 0.038; heterozygous model: OR = 2.04, 95 % CI 1.36–3.07, P = 0.001; respectively), especially for the polymorphisms rs2234693 and rs9340799. Furthermore, we found significant correlations of ESR2 genetic polymorphisms with the risk of PD (allele model: OR = 1.78, 95 % CI 1.19–2.67, P = 0.005; recessive model: OR = 1.93, 95 % CI 1.15–3.27, P = 0.014; homozygous model: OR = 1.77, 95 % CI 1.09–2.89, P = 0.022; heterozygous model: OR = 1.88, 95 % CI 1.08–3.27, P = 0.025; respectively), especially for the rs1256049 polymorphism. Our meta-analysis suggests that genetic polymorphisms in VDR, ESR1 and ESR2 genes may contribute to increased risks for PD.     

Effects of chronotype and environmental factors upon sleep and mental health in Japanese students aged 18–40 yrs

An integrated questionnaire was administered to a total of 4142 (2137 women, 2005 men; answer rate: 94.4%) university students and medical training schools students aged 18–40 years. The survey was carried out between May and October, 2004–2013. This questionnaire consisted of assessment of diurnal type, questions on sleep habits, mental health (upset emotionally, irritated, angered by small triggers, and suppressed), frequency of watching TV at night, use of mobile phone and playing TV games between 21:00 and 03:00 h, and questions on lighting conditions during the daytime and night. Sleep length in evening-type students (E-type; diurnal-type scores = 7–12) was shorter than in intermediate-types (I-type; diurnal-type scale (DTS) = 13–16) and morning-types (M-type; DTS = 17–28) on weekdays (p < 0.001), whereas sleep length in evening-types was shorter than intermediate- and morning-type students at weekends (p < 0.001). Mental health index scores of the E-type students were significantly lower than those of I-type and M-type students in both sexes (p < 0.001). Seventy-three percent of E-type women students watched TV after 23:00 h, significantly higher than 65.0 and 52.5% of I-type and M-type females, respectively (p < 0.001), and 70.4% of E-type male students watched the TV after 23:00 h, significantly higher than 66.1 and 59.7% of I-type and M-type males, respectively (p = 0.001). With regard to lighting conditions in the room in the afternoon, a slightly lower, but significantly so, percentage of the E-type students used the sunlight coming through the window than did the other types (p < 0.001). The frequency of having three nutritionally rich meals (especially breakfast) – including carbohydrates, proteins, vitamins, and minerals – was significantly higher in M-type than I-types and E-types (p < 0.001). Premenstrual syndrome (PMS) was significantly more severe in E-type than I-type and M-type females (p = 0.002). Lighting conditions throughout the 24 h and at breakfast can act as a strong zeitgeber for students and exert a great influence on their mental and physical health and can also affect PMS in women students.     

Interrelationships between distinct circadian manifestations of possible bruxism,perceived stress,chronotype and social jetlag in a population of undergraduate students

ABSTRACT

This study investigates the recently hypothesized association between distinct circadian manifestations of possible bruxism in subjects with different chronotype profiles, social jetlag and levels of perceived stress. A cross-sectional study was performed by surveying dental students’ of Lithuanian University of Health Sciences. A survey instrument was designed and pilot tested for reliability and validity prior to full-scale administration. The instrument consisted of four sections: socio-demographic questions, bruxism-related items, the Perceived Stress Scale and the Munich ChronoType Questionnaire. The study included 228 students (82.5% females; mean age 22.67 ± 2.27). Awake grinding was significantly associated with later chronotype values (p = 0,039). Despite the lack of significance, binary regression models demonstrated that students with later chronotypes report higher rates of possible bruxism, especially as far as awake grinding (p = .170; OR = 1.89) and sleep grinding (p = .140; OR = 1.60) are concerned. There were no significant associations between perceived stress, social jetlag and bruxism. The scores of perceived stress did not correlate with chronotype values, although a high positive correlation was found between chronotype and social jetlag (r = 0.516, p = .000). It can be concluded that later chronotypes increase the odds for self-reported bruxism, and are significantly associated with higher rates of awake grinding and social jetlag. No interrelationships were found between perceived stress, possible bruxism and social jetlag.     

Association between interleukin-18 polymorphisms and systemic lupus erythematosus: a meta-analysis

The aim of this study was to determine whether the three functional interleukin-18 (IL-18) promoter ?607 C/A (rs1946518), ?137 G/C (rs187238), and ?1297 C/T (rs360719) polymorphisms confer susceptibility to systemic lupus erythematosus (SLE) in ethnically different populations. Meta-analysis was conducted on the associations between these IL-18 polymorphisms and SLE using; (1) allele contrast, (2) the recessive model, (3) the dominant model, and (4) the additive model. A total of 11 comparisons (nine studies) involving 8,453 subjects (2,928 SLE patients and 5,525 controls) were included in the meta-analysis. In all study subjects, meta-analysis showed no association between SLE and the IL-18 ?607 C allele (odds ratio [OR] = 1.065, 95 % confidence interval [CI] = 0.870–1.303, p = 0.541). However, stratification by ethnicity indicated a significant association between this allele and SLE in Europeans (OR = 0.864, 95 % CI = 0.757–0.986, p = 0.031), but not in Asians (OR = 1.230, 95 % CI = 0.902–1.676, p = 0.190). Meta-analyses showed the same pattern for the IL-18 ?607 C allele using the dominant and additive models. Meta-analysis of the IL-18 ?137 G/C polymorphism showed no association between SLE and the IL-18 ?137 G allele in all study subjects (OR = 0.916, 95 % CI = 0.836–1.003, p = 0.057), but stratification by ethnicity indicated a significant association between this allele and SLE in Asians (OR = 0.792, 95 % CI = 0.629–0.997, p = 0.047), but not in Europeans (OR = 0.930, 95 % CI = 0.839–1.032, p = 0.171). Furthermore, meta-analysis showed that the IL-18 ?1297 C allele was significantly associated with SLE in all study subjects and in Europeans (OR = 1.240, 95 % CI = 1.052–1.482, p = 0.010 and OR = 1.303, 95 % CI = 1.050–1.617, p = 0.016). This meta-analysis shows that the IL-18 ?607 C/A and ?1297 C/T polymorphism are associated with the development of SLE in Europeans, and the IL-18 ?137 G/C polymorphism is associated with SLE in Asians.     

Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging

The etiology of schizophrenia likely involves genetic interactions. DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis. We tested for epistasis between these genes in a schizophrenia case–control study using machine learning algorithms (MLAs: random forest, generalized boosted regression and Monte Carlo logic regression). Convergence of MLAs revealed a subset of seven SNPs that were subjected to 2-SNP interaction modeling using likelihood ratio tests for nested unconditional logistic regression models. Of the ⁷C₂ = 21 interactions, four were significant at the α = 0.05 level: DISC1 rs1411771–CIT rs10744743 OR = 3.07 (1.37, 6.98) p = 0.007; CIT rs3847960–CIT rs203332 OR = 2.90 (1.45, 5.79) p = 0.003; CIT rs3847960–CIT rs440299 OR = 2.16 (1.04, 4.46) p = 0.038; one survived Bonferroni correction (NDEL1 rs4791707–CIT rs10744743 OR = 4.44 (2.22, 8.88) p = 0.00013). Three of four interactions were validated via functional magnetic resonance imaging (fMRI) in an independent sample of healthy controls; risk associated alleles at both SNPs predicted prefrontal cortical inefficiency during the N-back task, a schizophrenia-linked intermediate biological phenotype: rs3847960–rs440299; rs1411771–rs10744743, rs4791707–rs10744743 (SPM5 p < 0.05, corrected), although we were unable to statistically replicate the interactions in other clinical samples. Interestingly, the CIT SNPs are proximal to exons that encode the DISC1 interaction domain. In addition, the 3′ UTR DISC1 rs1411771 is predicted to be an exonic splicing enhancer and the NDEL1 SNP is ~3,000 bp from the exon encoding the region of NDEL1 that interacts with the DISC1 protein, giving a plausible biological basis for epistasis signals validated by fMRI.     

Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis

Recent publications have found an association between variants of exostosin 2 (EXT2) gene and the risk of type 2 diabetes in some population but not in others. In an attempt to address these inconsistencies, we investigated EXT2 variants in two independent cohorts, and conducted a literature-based meta-analysis. Through regression model, we assessed the relationship between the EXT2 single nucleotide polymorphisms (SNPs) (rs3740878, rs11037909 and rs1113132) and the risk of type 2 diabetes in Han Chinese population, including a total of 2,533 cases and 2,643 controls. We combined our data with that from previously published studies and performed a meta-analysis to evaluate the effect size of the gene. Consistent with some studies, we found marginal association for the rs3740878 (OR = 1.07, 95 % CI = 0.99, 1.16, p = 0.09), rs11037909 (OR = 1.07, 95 % CI = 0.99, 1.16, p = 0.08), and rs1113132 (OR = 1.08, 95 % CI = 1.00, 1.17, p = 0.06) in our 2 cohorts. Meta-analysis, comprising 9,224 type 2 diabetes and 10,484 controls, revealed that three SNPs (rs3740878, rs11037909 and rs1113132) in EXT2 were significantly associated with type 2 diabetes (ORs range from 1.06 to 1.07, p = 0.038, p = 0.008 and p = 0.005, respectively). Variation in the EXT2 locus appears to be associated with a small increase in the risk of type 2 diabetes. However, well-designed prospective studies with larger sample size and more ethnic groups are needed to further validate the results.     

Role of p16 gene promoter methylation in gastric carcinogenesis: a meta-analysis

This meta-analysis was performed to evaluate the relationships between promoter DNA methylation in tumor suppressor gene p16 and gastric carcinogenesis. The PubMed, CISCOM, CINAHL, Web of Science, Google Scholar, EBSCO, Cochrane Library and CBM databases were searched for relevant articles published before November 1st, 2013 without any language restrictions. Meta-analysis was conducted using the STATA 12.0 software. Crude odds ratios (ORs) with 95 % confidence intervals (95 % CI) were calculated. Forty-seven clinical cohort studies that met all inclusion criteria were included in this meta-analysis. A total of 2,813 gastric cancer (GC) patients were assessed. Our meta-analysis results revealed that the frequencies of p16 promoter methylation in the GC tissues were higher than those of normal and adjacent tissues (Normal: OR = 23.04, 95 % CI = 13.55–39.15, P < 0.001; Adjacent: OR = 4.42, 95 % CI = 1.66–11.76, P = 0.003; respectively). Furthermore, we observed significant associations of p16 promoter methylation with TNM stage, histologic grade, invasive grade, lymph node metastasis of GC (TNM stage: OR = 3.60, 95 % CI: 2.17–5.98, P < 0.001; Histologic grade: OR = 2.63, 95 % CI: 1.55–4.45, P < 0.001; Invasive grade: OR = 3.44, 95 % CI: 1.68–7.06, P = 0.001; Lymph node metastasis: OR = 2.68, 95 % CI: 1.66–4.32, P < 0.001; respectively). However, there were no correlations of p16 promoter methylation with the TNM stage and Helicobacter pylori (HP) infection of GC (Tumor size: OR = 0.76, 95 % CI: 0.14–4.07, P = 0.746; HP infection: OR = 1.31, 95 % CI: 0.75–2.27, P = 0.342; respectively). Our findings provide empirical evidence that p16 promoter methylation may play an important role in gastric carcinogenesis. Thus, p16 promoter methylation may be a promising potential biomarker for the early diagnosis of GC.     

Association between vacA genotypes and the risk of duodenal ulcer: a meta-analysis

Epidemiological studies have reported the relationship between vacuolating cytotoxin A (vacA) s-/m- region genotypes and duodenal ulcer (DU), but the results remained inconclusive. We performed the present meta-analysis to investigate a more authentic association between vacA s-/m- region genotypes and DU. Literature search was performed by searching Embase, PubMed and ISI Web of Science databases as well as checking references from identified articles, reviews and the abstracts presented at related scientific societies meetings. The association was assessed by combined odds ratio (OR) with 95 % confidence interval (CI). A total of 42 studies were included in our final meta-analysis. The combined ORs (95 % CIs) showed that vacA s1 (OR = 2.96, 95 % CI = 2.34–3.75), m1 (OR = 1.46, 95 % CI = 1.05–2.04) and s1m1 (OR = 1.89, 95 % CI = 1.47–2.42) were associated with increased DU risk significantly in the overall studied population. Subgroup analyses by ethnicity showed that vacA s1 increased the risk of DU in Asian countries (OR = 1.92, 95 % CI = 1.30–2.83), European countries (OR = 3.58, 95 % CI = 2.13–6.03) and Latin American countries (OR = 4.20, 95 % CI = 2.21–7.98); vacA m1 increased the risk of DU in Latin American countries (OR = 2.98, 95 % CI = 1.59–5.56); vacA s1m1 increased the risk of DU in Asian countries (OR = 2.04, 95 % CI = 1.12–3.73) and Latin American countries (OR = 2.05, 95 % CI = 1.20–3.48); vacA s2m1 increased the risk of DU in Latin American countries (OR = 2.30, 95 % CI = 1.17–4.50). The data suggest that genotype testing of vacA s- and m- region will be useful in screening susceptible individuals for DU development.     

Case–control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A,SCN2A,SCN3A,SCN1B,and SCN2B and epilepsy

High-frequency action potentials are mediated by voltage-gated sodium channels, composed of one large α subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the brain. These play a key role in epilepsy, with the most commonly mutated gene in epilepsy being SCN1A. We examined whether polymorphisms in the above genes affect epilepsy risk in 1,529 epilepsy patients and 1,935 controls from four ethnicities or locations: Malay, Indian, and Chinese, all from Malaysia, and Chinese from Hong Kong. Of patients, 19 % were idiopathic, 42 % symptomatic, and 40 % cryptogenic. We genotyped 43 polymorphisms: 27 in Hong Kong, 28 in Malaysia, and 12 in both locations. The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A: odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotype GG versus AA (p = 0.003). The OR was between 0.76 and 0.87 for all ethnicities. Meta-analysis confirmed the association (OR = 0.81 and p = 0.002 for G, and OR = 0.67 and p = 0.007 for GG versus AA), which appeared particularly strong for Indians and for febrile seizures. Allele G affects splicing and speeds recovery from inactivation. Since SCN1A is preferentially expressed in inhibitory neurons, G may decrease epilepsy risk. SCN1A rs10188577 displayed OR = 1.20 for allele C (p = 0.003); SCN2A rs12467383 had OR = 1.16 for allele A (p = 0.01), and displayed linkage disequilibrium with rs2082366 (r ² = 0.67), whose genotypes tended toward association with SCN2A brain expression (p = 0.10). SCN1A rs2298771 was associated in Indians (OR = 0.56, p = 0.005) and SCN2B rs602594 with idiopathic epilepsy (OR = 0.62, p = 0.002). Therefore, sodium channel polymorphisms are associated with epilepsy.     

Eveningness is associated with skipping breakfast and poor nutritional intake in Brazilian undergraduate students

Some studies have proposed that self-reported eveningness, which reflects the preference of performing activities in the evening, may harm nutritional health and influence the eating behavior and nutritional status of individuals. However, the relationship between these variables (eveningness and nutritional status) and the consumption of breakfast, which is currently considered a marker of health, has been insufficiently explored by studies. The aim of this study was to investigate, in undergraduate students, the association between diurnal preference, being overweight, and food consumption (with special focus on breakfast). The study included 721 undergraduate students from a Brazilian public university. Dietary intake was assessed by 24-hour food recall, and the usual time for breakfast was identified. Body weight, height, and waist circumference were measured by trained researchers. Diurnal preference was determined by the Horne and Ostberg questionnaire validated for the Brazilian population, and the participants were classified into three categories: evening (coefficient: 16–41), intermediate type (coefficient: 42–58) or morning type (coefficient: 59–86). The prevalence of skipping breakfast was higher among the evening types (p = 0.02), when compared with morning and intermediate types. A negative association between the diurnal preference coefficient and total caloric (coefficient ?0.25, p = 0.007, r² adjusted = 0.12), carbohydrate (coefficient ?0.19, p = ?0.04, r² adjusted = 0.04) and lipid intake (coefficient ?0.18, p = 0.04, r² adjusted = 0.05) was also found in the breakfast skippers but not in breakfast eaters. In other words, breakfast skippers with diurnal preference values indicative of eveningness consumed more calories, carbohydrates and fats. Evening types presented significant odds of skipping breakfast (OR = 1.7, CI = 1.1–2.9, p = 0.02) when compared with morning and intermediate chronotypes. We conclude that eveningness is associated with skipping breakfast and a higher consumption of calories, carbohydrates and fats in breakfast skippers. These eating behaviors may predispose these individuals to being overweight.     

Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma

DNMT3B is an important enzyme to modulate the methylation status in mammalian cells. The aim of this study is to investigate the correlation of the DNMT3B G39179T polymorphism with the susceptibilities of colorectal adenomatous polyps and adenocarcinoma. This case-control study included 146 colorectal adenomatous polyps, 170 colorectal adenocarcinoma patients, and 157 normal controls. DNMT3B polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis. Family history of colorectal cancer significantly increases the risk of developing colorectal adenomatous polyps and adenocarcinoma. The genotype frequency of DNMT3B polymorphism (T/T and G/T + G/G) in adenocarcinoma patients was significantly different from that in controls (P value = 0.01). Compared with DNMT3B T/T genotype, the G allelotype (G/T + G/G genotype) had lower risk to develop colorectal adenocarcinoma (OR = 0.50, 95% CI = 0.29–0.87); while there was no significant difference between the colorectal adenomatous polyps patients and controls (OR = 0.63, 95% CI = 0.37–1.09), although descending tendency could be found in this polyps group. In the stratification analysis, a significant association was confined to subgroups of age < 55 (OR = 0.31, 95% CI = 0.12–0.84) and males (OR = 0.35, 95% CI = 0.17–0.71). Meanwhile, combined G/T + G/G genotypes were found to have a lower risk in non-drinkers to develop both colorectal adenomatous polyps and adenocarcinoma (OR = 0.54, 95% CI = 0.31–0.96 and OR = 0.48, 95% CI = 0.27–0.84, respectively). This study also showed a distinct difference in the distribution of DNMT3B G39179T SNP in different ethnics. DNMT3B G39179T SNP may be a potential genetic susceptibility factor for adenocarcinoma of the colon, especially in younger Chinese Han non-drinker men.     

Association between GSTP1, GSTM1 and GSTT1 polymorphisms involved in xenobiotic metabolism and head and neck cancer development

Polymorphisms in the glutathione S-transferase superfamily genes that encodes enzymes involved in the phase II xenobiotic metabolism may lead head and neck cancer development. In this study we investigate the association of A313G and C341T GSTP1 polymorphisms, GSTM1 and GSTT1 null genotypes in the head and neck cancer development, interactions between these polymorphisms,the tumor histopathologic parameters and risk factors (smoking and drinking) were also evaluated in the case–control study. 775 individuals (261 patients/514 controls) were included in the study. Molecular analyzes were performed by PCR and PCR–RFLP; and statistical analyzes by Chi square and multiple logistic regression. Chi square test showed that only the genotype frequencies for GSTM1 and GSTT1 were in Hardy–Weinberg disequilibrium in both groups. Significant results with p ≤ 0.05 showed that age ≥ 48 years (OR = 11.87; 7.55–18.65), smoking (OR = 4.25; 2.70–6.69), drinking (OR = 1.59; 1.02–2.46) were possible predictors for the head and neck cancer development and the presence of A313G GSTP1 polymorphism (OR = 0.62; 0.42–0.92) decreased the risk for this disease. Individuals with the 313AG/GG GSTP1 and age ≥ 48 years (OR = 0.59; 0.38–0.91), male gender (OR = 0.54; 0.35–0.83), smokers (OR = 0.63; 0.40–0.99) and drinkers (OR = 0.57; 0.35–0.95); the GSTM1 null genotype and age < 48 years (OR = 2.46; 1.09–5.55); the GSTT1 null genotype and primary anatomical sites of pharynx (OR = 0.37; 0.17–0.79) and larynx (OR = 3.60; 1.93–6.72), can modulate the risk for the disease development. The variables age ≥ 48 years, smoking and drinking can be predictors for head and neck cancer development; moreover, A313G GSTP1 polymorphism, GSTM1 and GSTT1 null genotypes can modulate the risk for this disease.