Discovery of new genetic loci for male sexual orientation in Han population.

Epidemiological studies have demonstrated that the genetic factors partly influence the development of same-sex sexual behavior, but most genetic studies have focused on people of primarily European ancestry, potentially missing important biological insights. Here, we performed a two-stage genome-wide association study (GWAS) with a total sample of 1478 homosexual males and 3313 heterosexual males in Han Chinese populations and identified two genetic loci (rs17320865, Xq27.3, FMR1NB, Pmeta = 8.36 × 10-8, OR = 1.29; rs7259428, 19q12, ZNF536, Pmeta = 7.58 × 10-8, OR = 0.75) showing consistent association with male sexual orientation. A fixed-effect meta-analysis including individuals of Han Chinese (n = 4791) and European ancestries (n = 408,995) revealed 3 genome-wide significant loci of same-sex sexual behavior (rs9677294, 2p22.1, SLC8A1, Pmeta = 1.95 × 10-8; rs2414487, 15q21.3, LOC145783, Pmeta = 4.53 × 10-9; rs2106525, 7q31.1, MDFIC, Pmeta = 6.24 × 10-9). These findings may provide new insights into the genetic basis of male sexual orientation from a wider population scope. Furthermore, we defined the average ZNF536-immunoreactivity (ZNF536-ir) concentration in the suprachiasmatic nucleus (SCN) as lower in homosexual individuals than in heterosexual individuals (0.011 ± 0.001 vs 0.021 ± 0.004, P = 0.013) in a postmortem study. In addition, compared with heterosexuals, the percentage of ZNF536 stained area in the SCN was also smaller in the homosexuals (0.075 ± 0.040 vs 0.137 ± 0.103, P = 0.043). More homosexual preference was observed in FMR1NB-knockout mice and we also found significant differences in the expression of serotonin, dopamine, and inflammation pathways that were reported to be related to sexual orientation when comparing CRISPR-mediated FMR1NB knockout mice to matched wild-type target C57 male mice.

Detection of a novel avian influenza A (H7N9) virus in humans by multiplex one-step real-time RT-PCR assay.

BACKGROUND: A novel avian influenza A (H7N9) virus emerged in eastern China in February 2013. 413 confirmed human cases, including 157 deaths, have been recorded as of July 31, 2014. METHODS: Clinical specimens, including throat swabs, sputum or tracheal aspirates, etc., were obtained from patients exhibiting influenza-like illness (ILIs), especially from those having pneumonia and a history of occupational exposure to poultry and wild birds. RNA was extracted from these samples and a multiplex one-step real-time RT-PCR assay was developed to specifically detect the influenza A virus (FluA). PCR primers targeted the conserved M and Rnase P (RP) genes, as well as the hemagglutinin and neuraminidase genes of the H7N9 virus. RESULTS: The multiplex assay specifically detected the avian H7N9 virus, and no cross-reaction with other common respiratory pathogens was observed. The detection limit of the assay was approximately 0.05 50% tissue culture infective doses (TCID50), or 100 copies per reaction. Positive detection of the H7N9 virus in sputum/tracheal aspirates was higher than in throat swabs during the surveillance of patients with ILIs. Additionally, detection of the matrix (M) and Rnase P genes aided in the determination of the novel avian H7N9 virus and ensured the quality of the clinical samples. CONCLUSIONS: These results demonstrate that the multiplex assay detected the novel avian H7N9 virus with high specificity and sensitivity, which is essential for the early diagnosis and treatment of infected patients.

Relationship between serum oncostatin M levels and degree of coronary stenosis in patients with coronary artery disease.

BACKGROUND: Oncostatin M (OSM) is an inflammatory cytokine which has been found to be expressed at sites of atherosclerotic lesions. We sought to investigate whether serum OSM levels are associated with coronary stenosis in patients with coronary artery disease (CAD). METHODS: A total of 117 patients with CAD and 35 patients without CAD who underwent coronary angiography were enrolled in this study. Serum levels of OSM were measured by enzyme-linked immunosorbent assay. The severity of CAD was assessed by the number of diseased vessels and coronary stenosis score. RESULTS: Serum OSM levels were significantly elevated in CAD patients compared with those without CAD. A stepwise increase in serum levels of OSM was also found depending on the number of > 50% coronary stenosis: median value 4.24 pg/mL (2.72 - 4.24) in 1-vessel disease, 6.44 pg/mL (4.87 - 10.09) in 2-vessel disease, and 7.83 pg/mL (5.41 - 10.37) in 3-vessel disease (p = 0.007 for trend). Correlation analysis showed coronary stenosis score positively correlated with age (r = 0.202, p = 0.029), current smoking (r = 0.210, p = 0.023), hypertension (r = 0.256, p = 0.005), TG (r = 0.408, p = 0.000), LDL-cholesterol (r = 0.325, p < 0.001), and hs-CRP (r = 0.307, p = 0.001), and correlated with OSM (r = 0.314, p < 0.001). CONCLUSIONS: Our data suggest that increased serum OSM levels are associated with the coronary stenosis score and that circulating levels of this chemokine may reflect the extent of coronary atherosclerosis.

Quantitative assessment of the associations between CYP1A1 polymorphisms and gastric cancer risk.

A great number of studies regarding the association between MspI and Ile462Val polymorphisms in the CYP1A1 gene and gastric cancer have been published. However, the results have been inconsistent. In this study, a meta-analysis was performed to investigate the associations. Published literature from PubMed, ISI Web of Science and other Chinese databases were searched for eligible publications. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using random or fixed effect model. Nine studies (860 cases/2183 controls) for CYP1A1 MspI polymorphism and nine studies (1161 cases/3273 controls) for CYP1A1 Ile462Val polymorphism were included in this meta-analysis. MspI polymorphism was not associated with gastric cancer risk (dominant model, OR = 0.95, 95%CI 0.80-1.14; recessive model, OR = 1.01, 95%CI 0.76-1.35; CC vs. TT, OR = 1.03, 95%CI 0.76-1.41; TC vs. TT, OR = 0.95, 95%CI 0.78-1.15). Similarly, there was no association between Ile462Val polymorphism and gastric cancer risk (dominant model, OR = 0.93, 95%CI 0.79-1.10; recessive model, OR = 1.34, 95%CI 0.90-2.00; GG vs. AA, OR = 1.27, 95%CI 0.84-1.90; AG vs. AA, OR = 0.87, 95%CI 0.71-1.07). In the subgroup analysis, no significant association was found in ever smokers, never smokers, Asians and Caucasians. This meta-analysis suggested that there were no associations between CYP1A1 polymorphisms and gastric cancer.

Differential roles of breakfast and supper in rats of a daily three-meal schedule upon circadian regulation and physiology.

The timing of meals has been suggested to play an important role in circadian regulation and metabolic health. Three meals a day is a well-established human feeding habit, which in today's lifestyle may or may not be followed. The aim of this study was to test whether the absence of breakfast or supper significantly affects the circadian system and physiological function. The authors developed a rat model for their daily three meals study, whereby animals were divided into three groups (three meals, TM; no first meal, NF; no last meal, NL) all fed with the same amount of food every day. Rats in the NF group displayed significantly decreased levels of plasma triglyceride (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and glucose in the activity phase, accompanied by delayed circadian phases of hepatic peripheral clock and downstream metabolic genes. Rats in the NL group showed lower concentration of plasma TC, HDL-C, and glucose in the rest phase, plus reduced adipose tissue accumulation and body weight gain. Real-time polymerase chain reaction (PCR) analysis indicated an attenuated rhythm in the food-entraining pathway, including down-regulated expression of the clock genes Per2, Bmal1, and Rev-erbα, which may further contribute to the delayed and decreased expression of FAS in lipogenesis in this group. Our findings are consistent with the conclusion that the daily first meal determines the circadian phasing of peripheral clocks, such as in the liver, whereas the daily last meal tightly couples to lipid metabolism and adipose tissue accumulation, which suggests differential physiological effects and function of the respective meal timings.

Mutations in hepatitis B virus DNA from patients with coexisting HBsAg and anti-HBs.

BACKGROUND: The serological markers with coexistence of hepatitis B surface antigen (HBsAg) and antibody to HBsAg (anti-HBs) of hepatitis B virus (HBV) infection were rare pattern. The virological significance, immune response and clinical outcome of these patients remain largely unknown. OBJECTIVES: This research explores the relationship between this serological profile and HBV genome variants. STUDY DESIGN: We studied 35 patients both carrying HBsAg and anti-HBs (group I), and 70 patients with HBsAg positive but anti-HBs negative (group II, served as control). The HBV genome sequences were obtained by direct sequencing of polymerase chain reaction (PCR) products. RESULTS: The amino acid (aa) variation within major hydrophilic region (MHR), especially in the first loop (aa124-137) of "a" determinant in group I is significantly higher than those in group II. The aa variation of cytotoxic lymphocyte (CTL) epitope in HBsAg (aa87-aa95) in group I is also significantly higher than that in group II. Interestingly, the basal core promoter (BCP) double mutations (A1762T/G1764A) in group I is significantly higher than those in group II as well. CONCLUSIONS: In patients with HBV infection, the coexistence of HBsAg and anti-HBs is associated with an increased aa variability in several key areas of HBV genome. The molecular characteristic of HBV in HBsAg and anti-HBs positive patients is distinct and worth further studies.

Dynamic variations in the peripheral blood lymphocyte subgroups of patients with 2009 pandemic H1N1 swine-origin influenza A virus infection.

BACKGROUND: Novel Influenza A (H1N1) is an acute respiratory infectious disease. Animal experiments indicated that when H1N1 virus infected early hosts, it showed strong CD4(+), CD8(+), and CD4(+)CD25(+) T cell reactions. The aim of this study was to investigate the dynamic fluctuations of the peripheral blood lymphocyte subgroups in patients infected with H1N1 swine-origin influenza A virus (S-OIV). METHODS: The frequency of T cells, B cells, natural killer (NK) cells, and regulatory T cells (Treg) in 36 severe H1N1 and 40 moderate H1N1 patients were detected at different periods by flow cytometry. In parallel, serum cytokines were detected by enzyme-linked immunosorbent assay and C-reactive protein (CRP) was analyzed through an image-type automatic biochemical analyzer. In addition, 20 healthy volunteers, who were not infected with 2009 H1N1 virus, were selected as controls. RESULTS: The frequency of NK cells were decreased in all cases and CD19(+) B cells were increased in severe cases than those of the controls. At 1-2d from onset, the frequency of CD4(+) and CD4(+)CD25(+) T cells in moderate cases was higher than in the severe cases. Serum cytokines, specifically IL-2, IL-4, IL-6, IL-10, and IFN-γ exhibited no significant change both in the moderate and the severe cases during the whole monitoring process. In the early stage of the disease, serum CRP levels in the severe and moderate groups were significantly higher than that in the control group. CONCLUSIONS: Patients showed different lymphocyte subgroup distributions between mild and severe cases, which might affect the incidence and development of 2009 H1N1.

Plasma gelsolin levels and 1-year mortality after first-ever ischemic stroke.

PURPOSE: Plasma gelsolin depletion has been associated with poor outcome of critically ill patients. We sought to investigate change in plasma gelsolin level after ischemic stroke and to evaluate its relation with disease outcome. MATERIALS AND METHODS: Fifty healthy controls and 172 patients with first-ever ischemic stroke were included. Plasma samples were obtained within 24 hours from stroke onset. Its concentration was measured by enzyme-linked immunosorbent assay. RESULTS: Plasma gelsolin level in stroke patients was significantly decreased compared with healthy controls. A multivariate analysis showed that plasma gelsolin level was an independent predictor for 1-year mortality (odds ratio, 0.945; 95% confidence interval [CI], 0.918-0.974; P = .0002) and negatively associated with National Institutes of Health Stroke Scale (NIHSS) score (t = -4.802, P < .001) and plasma C-reactive protein level (t = -4.197, P < .001). A receiver operating characteristic curve identified that a baseline plasma gelsolin level less than 52.0 mg/L predicted 1-year mortality of patients with 73.0% sensitivity and 65.2% specificity (area under curve [AUC], 0.738; 95% CI, 0.666-0.802). The predictive value of the gelsolin concentration was similar to that of NIHSS score (AUC, 0.742; 95% CI, 0.670-0.806; P = .940). Gelsolin improved the AUC of NIHSS score to 0.814 (95% CI, 0.747-0.869; P = .032). CONCLUSIONS: Plasma gelsolin level is a useful, complementary tool to predict mortality after ischemic stroke.

Effect of Gan-Pi regulatory needling in treating chloasma.

OBJECTIVE: To study the effect of Gan-Pi regulatory needling (GPRN) in treating chloasma and its influences on female sex hormones, superoxide dismutase (SOD), lipid peroxide (LPO) and melanocyte-stimulating hormone (MSH). METHODS: Ninety chloasma patients were equally randomized to three groups, the treatment group treated with GPRN, the control group treated with conventional Western medicine and the blank group untreated. Changes in the scores of skin lesion (area and color) and symptom, as well as blood levels of female sex hormones, MSH, SOD and LPO were observed and compared after 3 months of treatment. RESULTS: In the treatment group, the scores of skin lesion area and color were reduced from 2.76 + or - 0.96 and 2.48 + or - 0.78 before treatment to 1.42 + or - 0.42 and 1.03 + or - 0.41 after treatment, respectively, while in the control group they were from 2.78 + or - 1.06 and 2.53 + or - 0.88 to 1.58 + or - 1.23 and 1.28 + or - 0.96, respectively, all showing significant changes (P<0.05); the scores were insignificantly changed in the blank group (P>0.05). At the same time, the score of symptoms in the treatment group significantly improved after treatment (P<0.05), significantly different from that of the other two groups. Comparison of female sex hormones among groups showed no significant differences either before or after treatment. The level of LPO decreased and SOD increased in both the treatment group and the control group significantly (all P<0.05), but significant lowering of MSH was only seen in the treatment group (P<0.05). CONCLUSIONS: GPRN can effectively lessen the size and lighten the color of chloasma, improve the accompanying symptoms in patients and decrease LPO and MSH levels and increase the SOD level, but will not affect the level of the female sex hormones.

[Application of a calling and queuing system in blood sampling in the clinical laboratory].

This paper introduces the application of a calling and queuing system for blood sample collection in a large hospital in China. Besides the basic function, it has following functions. (a) A real name system: get the number according to the laboratory application form to prevent the phenomena of buying a number and an empty number. (b) Two times waiting: the patient should wait at the main hall, then at the blood sampling window so as to improve the work efficiency. (c) The flowchart for an outpatient blood testing is as following: getting the number --> waiting --> blood sampling --> getting the test information report. This system is capable of not only optimizing the work flow, but also improving the clinical environment. It shortens the patient's waiting time and raises the laboratory quality as well.

[Application of comparison method in internal quality control of hematology analyzer by using fresh blood].

OBJECTIVE: To investigate the comparison method on internal control of hematology analyzer by using fresh blood. METHODS: The hematology analyzer with well function was selected as the reference analyzer, fresh blood samples from healthy subjects were measured by reference analyzer and the values were used to calibrate compared hematology analyzers. The acceptable limits of relative deviation of WBC,RBC, HGB,HCT, PLT were established by comparative experiments during three months. The results of fresh blood samples from patients with low/medium/high levels measured by compared analyzer were compared with those from reference analyzer, the relative deviation of WBC, RBC, HGB, HCT, PLT was calculated respectively. The internal quality control charts in laboratory information system were established, with date as x-axis, relative deviation as y-axis. The acceptable relative deviation limits were set to be +/-2 s, and to be used for laboratory quality control. RESULT: The relative deviation of WBC, RBC, HGB, HCT, PLT with high, medium, low levels were(0.75+/-2.964)%, (1.19+/-2.488)%,(1.43+/-2.439)%; (-0.39+/-1.327)%, (-0.26+/-1.297)%, (-0.35+/-1.095)%û(-0.43+/-1.393)%, (-0.17+/-1.139)%, (0.24+/-1.166)%û(-.43+/-1.362)%, (-0.36+/-1.381)%, (-0.57+/-1.299)%û(-0.93+/-4.330)%,(0.04+/-4.118)%, (-0.41+/-4.149)%, respectively in 2006. As the second instrument, the compared analyzer was involved in College of American Pathologists Proficiency Testing with satisfactory results, the bias of WBC,RBC, HGB, HCT, PLT were within (-0.5 approximately 5.1)%, (-1.0 approximately 1.6)%, (-1.7 approximately 1.4)%, (-1.5 approximately 1.3)%, (-4.5 approximately 7.4)%, respectively. CONCLUSION: The quality control on compared hematology analyzer can be effectively, conveniently and economically performed using this method.