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Inflammation might play a role in bipolar disorder (BD), but it remains unclear the relationship between inflammation and brain structural and functional abnormalities in patients with BD. In this study, we focused on the alterations of functional connectivity (FC), peripheral pro-inflammatory cytokines and their correlations to investigate the role of inflammation in FC in BD depression.
Methods
In this study, 42 unmedicated patients with BD II depression and 62 healthy controls (HCs) were enrolled. Resting-state-functional magnetic resonance imaging was performed in all participants and independent component analysis was used. Serum levels of Interleukin-6 (IL-6) and Interleukin-8 (IL-8) were measured in all participants. Correlation between FC values and IL-6 and IL-8 levels in BD was calculated.
Results
Compared with the HCs, BD II patients showed decreased FC in the left orbitofrontal cortex (OFC) implicating the limbic network and the right precentral gyrus implicating the somatomotor network. BD II showed increased IL-6 (p = 0.039), IL-8 (p = 0.002) levels. Moreover, abnormal FC in the right precentral gyrus were inversely correlated with the IL-8 (r = −0.458, p = 0.004) levels in BD II. No significant correlation was found between FC in the left OFC and cytokines levels.
Conclusions
Our findings that serum IL-8 levels are associated with impaired FC in the right precentral gyrus in BD II patients suggest that inflammation might play a crucial role in brain functional abnormalities in BD.
Manganese (Mn) oxides have been prevalent on Earth since before the Great Oxidation Event and the Mn cycle is one of the most important biogeochemical processes on the Earth's surface. In sunlit natural environments, the photochemistry of Mn oxides has been discovered to enable solar energy harvesting and conversion in both geological and biological systems. One of the most widespread Mn oxides is birnessite, which is a semiconducting layered mineral that actively drives Mn photochemical cycling in Nature. The oxygen-evolving centre in biological photosystem II (PSII) is also a Mn-cluster of Mn4CaO5, which transforms into a birnessite-like structure during the photocatalytic oxygen evolution process. This phenomenon draws the potential parallel of Mn-functioned photoreactions between the organic and inorganic world. The Mn photoredox cycling involves both the photo-oxidation of Mn(II) and the photoreductive dissolution of Mn(IV/III) oxides. In Nature, the occurrence of Mn(IV/III) photoreduction is usually accompanied with the oxidative degradation of natural organics. For Mn(II) oxidation into Mn oxides, mechanisms of biological catalysis mediated by microorganisms (such as Pseudomonas putida and Bacillus species) and abiotic photoreactions by semiconducting minerals or reactive oxygen species have both been proposed. In particular, anaerobic Mn(II) photo-oxidation processes have been demonstrated experimentally, which shed light on Mn oxide emergence before atmospheric oxygenation on Earth. This review provides a comprehensive and up-to-date elaboration of Mn oxide photoredox cycling in Nature, and gives brand-new insight into the photochemical properties of semiconducting Mn oxides widespread on the Earth's surface.
Patients with schizophrenia and individuals with schizotypy, a subclinical group at risk for schizophrenia, have been found to have impairments in cognitive control. The Dual Mechanisms of Cognitive Control (DMC) framework hypothesises that cognitive control can be divided into proactive and reactive control. However, it is unclear whether individuals with schizotypy have differential behavioural impairments and neural correlates underlying these two types of cognitive control.
Method:
Twenty-five individuals with schizotypy and 26 matched healthy controls (HCs) completed both reactive and proactive control tasks with electroencephalographic data recorded. The proportion of congruent and incongruent trials was manipulated in a classic colour-word Stroop task to induce proactive or reactive control. Proactive control was induced in a context with mostly incongruent (MI) trials and reactive control in a context with mostly congruent (MC) trials. Two event-related potential (ERP) components, medial frontal negativity (MFN, associated with conflict detection) and conflict sustained potential (conflict SP, associated with conflict resolution) were examined.
Results:
There was no significant difference between the two groups in terms of behavioural results. In terms of ERP results, in the MC context, HC exhibited significantly larger MFN (360–530 ms) and conflict SP (600–1000 ms) amplitudes than individuals with schizotypy. The two groups did not show any significant difference in MFN or conflict SP in the MI context.
Conclusions:
The present findings provide initial evidence for dissociation of neural activation between proactive and reactive cognitive control in individuals with schizotypy. These findings help us understand cognitive control deficits in the schizophrenia spectrum.
This study assesses the prevalence of childhood undernutrition from 2001 to 2016 and estimate projections of undernutrition for 2016–2030 in Nepal.
Design:
The study used data from four rounds of a cross-sectional survey of Nepal Demographic and Health Survey (NDHS) conducted in 2001, 2006, 2011 and 2016. Descriptive analyses were conducted to calculate prevalence, binary logistic regression was used to test the significance of trends over time and autoregressive integrated moving average model was used to forecast the prevalence of childhood undernutrition.
Settings:
The children and household member datasets from four NDHS were merged to assess the trends of childhood undernutrition in Nepal.
Participants:
A total of 16 613 children (8399 male and 8214 female) under 5 years of age were selected for anthropometric measurements using a stratified cluster random sampling method.
Results:
Overall results show a decline in prevalence of stunting from 57·2 % to 35·8 % (P < 0·001), underweight from 42·7 % to 27 % (P < 0·001) and wasting from 11·2 % to 9·7 % (P < 0·05) from 2001 to 2016. However, different population subgroups have a higher prevalence of undernutrition than national average. Further, the analyses show that the prevalence of stunting will decline to 14·3 % and wasting to 8·4 % by 2030.
Conclusion:
A remarkable decrease in the prevalence of stunting and underweight has been observed over the last 15 years. Nepal is likely to achieve the nutritional targets for stunting but not for wasting by 2030. Given large subpopulation variations, further improvement in undernutrition require more specific, targeted and localised programmes.
The high overall plant-based diet index (PDI) is considered to protect against type 2 diabetes in the general population. However, whether the PDI affects gestational diabetes mellitus (GDM) risk among pregnant women is still unclear. We evaluated the association between PDI and GDM risk based on a Chinese large prospective cohort – the Tongji Maternal and Child Health Cohort. Dietary data were collected at 13–28 weeks of pregnancy by a validated semi-quantitative FFQ. The PDI was obtained by assigning plant food groups positive scores while assigning animal food groups reverse scores. GDM was diagnosed by a 75 g 2-h oral glucose tolerance test at 24–28 weeks of gestation. Logistic regression models were fitted to estimate OR of GDM, with associated 95 % CI, comparing women in different PDI quartiles. Among the total 2099 participants, 169 (8·1 %) were diagnosed with GDM. The PDI ranged from 21·0 to 52·0 with a median of 36·0 (interquartile range (IQR) 33·0–39·0). After adjusting for social-demographic characteristics and lifestyle factors etc., the participants with the highest quartile of PDI were associated with 57 % reduced odds of GDM compared with women in the lowest quartile of PDI (adjusted OR 0·43; 95 % CI 0·24, 0·77; Pfor trend = 0·005). An IQR increment in PDI was associated with 29 % decreased odds of GDM (adjusted OR 0·71; 95 % CI 0·56, 0·90). Findings suggest that adopting a plant-based diet during pregnancy could reduce GDM risk among Chinese women, which may be valuable for dietary counselling during pregnancy.
Tuberculosis (TB) remains a global public health threat. Misdiagnosis and delayed therapy of sputum smear-negative TB can affect the treatment outcomes and promote pathogen transmission. The application of Xpert MTB/RIF assay in bronchoalveolar lavage fluid (BALF) has been recommended but needs clinical evidence. We carried out a prospective study in the Nanjing Public Health Medical Center from September 2018 to August 2019. Pulmonary tuberculosis (PTB) patients were enrolled in the study if they had negative results of sputum smear. We compared the performance of Xpert MTB/RIF assay in sputum and BALF using sputum culture as the reference. In addition to this, we applied parallel tests using sputum culture, sputum-based Xpert MTB/RIF assay and BALF-based Xpert MTB/RIF assay to jointly detect smear-negative PTB using clinical diagnosis as the reference. With mycobacterial culture as the reference standard, Xpert MTB/RIF of BALF showed a higher sensitivity (14/16, 87.5%), but a relatively lower specificity (57/92, 62.0%). Xpert MTB/RIF of sputum showed relatively lower sensitivity (6/10, 60.0%) and higher specificity (63/88, 71.6%). Compared with sputum culture, Xpert MTB /RIF assay reduced the median detection time of MTB from 30 to 0 days, which significantly shortened the diagnosis time of the smear-negative TB patients. Among the combined detections, the positive detection proportion was improved with significant differences comparing with sputum culture only, from 11.1% (10/90) to 46.7% (42/90) (P < 0.05). Our study showed Xpert MTB/RIF in BALF had a better performance in detecting MTB of smear-negative patients.
In the present study, we analysed the effects of SNP rs174547 (T/C) in the fatty acid desaturase 1 (FADS1) gene on long-chain PUFA levels. Four databases were searched to retrieve related literature with keywords such as fatty acid (FA), SNP, FADS1 and rs174547. A meta-analysis of the data was performed using Stata12.0 software, including summary statistics, test for heterogeneity, evaluation of publication bias, subgroup analysis and sensitivity analysis. The associations between rs174547 in FADS1 and seven types of FA, and Δ-5 (D5D) and Δ-6 fatty acid desaturase (D6D) activity were assessed based on the pooled results from eleven papers. A total of 3713 individuals (1529 TT and 2184 TC + CC) were included. The results demonstrated that minor C allele carriers of rs174547 had higher linoleic acid (LA; P < 0·001) and α-linolenic acid (P = 0·020) levels, lower γ-linolenic acid (GLA; P = 0·001) and arachidonic acid (P = 0·024) levels, and lower D5D (P = 0·005) and D6D (P = 0·004) activities than the TT genotype group. Stratification analysis showed that minor C allele carriers of rs174547 had higher LA and lower GLA levels and lower D6D activities in plasma (LA, P < 0·001; GLA, P < 0·001; D6D activity, P < 0·001) samples and in Asian populations (LA, P < 0·001; GLA, P = 0·001; D6D activity, P = 0·001) than the TT genotype group. In conclusion, minor C allele carriers of the SNP rs174547 were associated with decreased activity of D5D and D6D.
With the aim of optimizing the traditional construction process of a fiber-reinforced lattice structure, the present study modified a previously proposed technique called “truss stacking and node gluing.” To explicitly investigate the structural compressive properties (compressive strength and compressive modulus under the flat pressure), the geometrical parameters, material properties, and topological configuration were examined in detail. Additionally, the present study conducted the relevant theoretical analyses to predict the possible destruction modes and compressive properties. All the samples were tested with a universal testing machine at a rate of 2 mm/min using the ASTM-C365 standard. The results showed that compressive properties are positively related to the relative density and negatively related to the aspect ratio. It was also found that the compressive performance for different materials was in the following order (from good to bad): cotton-fiber reinforced epoxy composite (CREC), jute-fiber reinforced epoxy composite (JREC), and nylon-fiber reinforced epoxy composite (NREC). Furthermore, the mixed topological structure performed as well as the square structure, and they both overmatched the diamond structure. Lastly, the accuracy of the theoretical analysis was evaluated by comparing the theoretical values and the experimental values.
Shifts in the maternal gut microbiota have been implicated in the development of gestational diabetes mellitus (GDM). Understanding the interaction between gut microbiota and host glucose metabolism will provide a new target of prediction and treatment. In this nested case-control study, we aimed to investigate the causal effects of gut microbiota from GDM patients on the glucose metabolism of germ-free (GF) mice. Stool and peripheral blood samples, as well as clinical information, were collected from 45 GDM patients and 45 healthy controls (matched by age and prepregnancy body mass index (BMI)) in the first and second trimester. Gut microbiota profiles were explored by next-generation sequencing of the 16S rRNA gene, and inflammatory factors in peripheral blood were analyzed by enzyme-linked immunosorbent assay. Fecal samples from GDM and non-GDM donors were transferred to GF mice. The gut microbiota of women with GDM showed reduced richness, specifically decreased Bacteroides and Akkermansia, as well as increased Faecalibacterium. The relative abundance of Akkermansia was negatively associated with blood glucose levels, and the relative abundance of Faecalibacterium was positively related to inflammatory factor concentrations. The transfer of fecal microbiota from GDM and non-GDM donors to GF mice resulted in different gut microbiota colonization patterns, and hyperglycemia was induced in mice that received GDM donor microbiota. These results suggested that the shifting pattern of gut microbiota in GDM patients contributed to disease pathogenesis.
Rare earth elements (REE) in marine minerals have been widely used as proxies for the redox status of depositional and/or diagenetic environments. Phosphate nodules, which are thought to grow within decimetres below the sediment–water interface and to be able to scavenge REE from the ambient pore water, are potential archives of subtle changes in REE compositions. Whether their REE signals represent specific redox conditions or they can be used to track the overlying water chemistry is worth exploring. Through in situ laser ablation – inductively coupled plasma – mass spectrometry (LA-ICP-MS), we investigate the REE compositions of a drill-core-preserved phosphate nodule from the lower Cambrian Niutitang Formation in the Daotuo area, northeastern Guizhou Province, South China. REE distributions of the nodule show concentric layers with systematic decreases in Ce anomalies (Ce/Ce*) from the core to the rim. The lowest Ce/Ce* appears in the outer rim where REE concentrations are relatively high. These results are interpreted to reflect REE exchange with pore water at a very early stage or bathymetric variation during apatite precipitation. The origin of the shale-normalized middle REE (MREE) enrichment in our sample is less constrained. Possible driving factors include preferential MREE substitution for Ca in the apatite lattice, degradation of organic matter and deposition beneath a ferruginous zone. Although speculative, the last possibility is consistent with the chemically stratified model for early Cambrian oceans, in which dynamic fluctuations of the chemocline provided an ideal depositional context for phosphogenesis.
A 6-week growth trial was conducted to evaluate the influences of dietary valine (Val) levels on growth, protein utilisation, immunity, antioxidant status and gut micromorphology of juvenile hybrid groupers. Seven isoenergetic, isoproteic and isolipidic diets were formulated to contain graded Val levels (1·21, 1·32, 1·45, 1·58, 1·69, 1·82 and 1·94 %, DM basis). Each experimental diet was hand-fed to triplicate groups of twelve hybrid grouper juveniles. Results showed that weight gain percentage (WG%), protein productive value, protein efficiency ratio, and feed efficiency were increased as dietary Val level increased, reaching a peak value at 1·58 % dietary Val. The quadratic regression analysis of WG% against dietary Val levels indicated that the optimum dietary Val requirement for hybrid groupers was estimated to be 1·56 %. Gut micromorphology and expression of growth hormone in pituitary, insulin-like growth factor 1, target of rapamycin and S6 kinase 1 in liver were significantly affected by dietary Val levels. In serum, fish fed 1·58 % dietary Val had higher superoxide dismutase, catalase, lysozyme activities and IgM concentrations than fish fed other dietary Val levels. Fish fed 1·58 % dietary Val had higher expression of NF-E2-related factor 2 in head kidney than fish fed other dietary Val levels. Generally, the optimum dietary Val requirement for maximal growth of hybrid groupers was estimated to be 1·56 % of DM, corresponding to 3·16 % of dietary protein, and dietary Val levels affected growth, protein utilisation, immunity and antioxidant status in hybrid groupers.
Birth weight influences not only brain development, but also mental health outcomes, including depression, but the underlying mechanism is unclear.
Methods.
The phenotypic data of 12,872–91,009 participants (59.18–63.38% women) from UK Biobank were included to test the associations between the birth weight, depression, and brain volumes through the linear and logistic regression models. As birth weight is highly heritable, the polygenic risk scores (PRSs) of birth weight were calculated from the UK Biobank cohort (154,539 participants, 56.90% women) to estimate the effect of birth weight-related genetic variation on the development of depression and brain volumes. Finally, the mediation analyses of step approach and mediation analysis were used to estimate the role of brain volumes in the association between birth weight and depression. All analyses were conducted sex stratified to assess sex-specific role in the associations.
Result.
We observed associations between birth weight and depression (odds ratio [OR] = 0.968, 95% confidence interval [CI] = 0.957–0.979, p = 2.29 × 10−6). Positive associations were observed between birth weight and brain volumes, such as gray matter (B = 0.131, p = 3.51 × 10−74) and white matter (B = 0.129, p = 1.67 × 10−74). Depression was also associated with brain volume, such as left thalamus (OR = 0.891, 95% CI = 0.850–0.933, p = 4.46 × 10−5) and right thalamus (OR = 0.884, 95% CI = 0.841–0.928, p = 2.67 × 10−5). Additionally, significant mediation effects of brain volume were found for the associations between birth weight and depression through steps approach and mediation analysis, such as gray matter (B = –0.220, p = 0.020) and right thalamus (B = –0.207, p = 0.014).
Conclusions.
Our results showed the associations among birth weight, depression, and brain volumes, and the mediation effect of brain volumes also provide evidence for the sex-specific of associations.
Leg weakness (LW) issues are a great concern for pig breeding industry. And it also has a serious impact on animal welfare. To dissect the genetic architecture of limb-and-hoof firmness in commercial pigs, a genome-wide association study was conducted on bone mineral density (BMD) in three sow populations, including Duroc, Landrace and Yorkshire. The BMD data were obtained by ultrasound technology from 812 pigs (including Duroc 115, Landrace 243 and Yorkshire 454). In addition, all pigs were genotyped using genome-by-sequencing and a total of 224 162 single-nucleotide polymorphisms (SNPs) were obtained. After quality control, 218 141 SNPs were used for subsequent genome-wide association analysis. Nine significant associations were identified on chromosomes 3, 5, 6, 7, 9, 10, 12 and 18 that passed Bonferroni correction threshold of 0.05/(total SNP numbers). The most significant locus that associated with BMD (P value = 1.92e−14) was detected at approximately 41.7 Mb on SSC6 (SSC stands for Sus scrofa chromosome). CUL7, PTK7, SRF, VEGFA, RHEB, PRKAR1A and TPO that are located near the lead SNP of significant loci were highlighted as functionally plausible candidate genes for sow limb-and-hoof firmness. Moreover, we also applied a new method to measure the BMD data of pigs by ultrasound technology. The results provide an insight into the genetic architecture of LW and can also help to improve animal welfare in pigs.
In late December 2019, patients of atypical pneumonia due to an unidentified microbial agent were reported in Wuhan, Hubei Province, China. Subsequently, a novel coronavirus was identified as the causative pathogen which was named SARS-CoV-2. As of 12 February 2020, more than 44 000 cases of SARS-CoV-2 infection have been confirmed in China and continue to expand. Provinces, municipalities and autonomous regions of China have launched first-level response to major public health emergencies one after another from 23 January 2020, which means restricting movement of people among provinces, municipalities and autonomous regions. The aim of this study was to explore the correlation between the migration scale index and the number of confirmed coronavirus disease 2019 (COVID-19) cases and to depict the effect of restricting population movement. In this study, Excel 2010 was used to demonstrate the temporal distribution at the day level and SPSS 23.0 was used to analyse the correlation between the migration scale index and the number of confirmed COVID-19 cases. We found that since 23 January 2020, Wuhan migration scale index has dropped significantly and since 26 January 2020, Hubei province migration scale index has dropped significantly. New confirmed COVID-19 cases per day in China except for Wuhan gradually increased since 24 January 2020, and showed a downward trend from 6 February 2020. New confirmed COVID-19 cases per day in China except for Hubei province gradually increased since 24 January 2020, and maintained at a high level from 24 January 2020 to 4 February 2020, then showed a downward trend. Wuhan migration scale index from 9 January to 22 January, 10 January to 23 January and 11 January to 24 January was correlated with the number of new confirmed COVID-19 cases per day in China except for Wuhan from 22 January to 4 February. Hubei province migration scale index from 10 January to 23 January and 11 January to 24 January was correlated with the number of new confirmed COVID-19 cases per day in China except for Hubei province from 22 January to 4 February. Our findings suggested that people who left Wuhan from 9 January to 22 January, and those who left Hubei province from 10 January to 24 January, led to the outbreak in the rest of China. The ‘Wuhan lockdown’ and the launching of the first-level response to this major public health emergency may have had a good effect on controlling the COVID-19 epidemic. Although new COVID-19 cases continued to be confirmed in China outside Wuhan and Hubei provinces, in our opinion, these are second-generation cases.
We completely classify the possible extensions between semistable vector bundles on the Fargues–Fontaine curve (over an algebraically closed perfectoid field), in terms of a simple condition on Harder–Narasimhan (HN) polygons. Our arguments rely on a careful study of various moduli spaces of bundle maps, which we define and analyze using Scholze’s language of diamonds. This analysis reduces our main results to a somewhat involved combinatorial problem, which we then solve via a reinterpretation in terms of the Euclidean geometry of HN polygons.
The core toroidal plasma intrinsic rotation has been studied by experiments and simulations in the Joint Texas Experimental Tokamak (J-TEXT). The direction of core intrinsic rotation in the J-TEXT plasma is counter-current. As the plasma density ramps up, the rotation velocity increases in the counter-current direction. By comparing four different electron densities, linear local gyrokinetic simulations have been performed by the Gyrokinetic Electromagnetic Numerical Experiment code for the first time on J-TEXT. It is found that the most dominant turbulence is the ion temperature gradient at
$0.2a$
, where
$a$
is the minor radius of the plasma and this is unchanged during the plasma density ramp up. By scanning the radial wave vectors, it is found that the residual stress term reverses from negative to positive when the plasma density exceeds a certain threshold. The pinch term is larger than the residual stress term at all four electron densities, which means that the pinch term is always dominant in the core of a J-TEXT plasma.
The aim of the present study was to investigate the effects of dietary Zn level on growth performance, Zn bioaccumulation, antioxidant capacity and innate immunity in juvenile mud crabs (Scylla paramamosain). Six semi-purified diets were formulated to contain dietary Zn levels of 44·5, 56·9, 68·5, 97·3, 155·6 or 254·7 mg/kg. Dietary Zn level significantly influenced percentage weight gain (PWG), with the highest observed in crabs fed the diet containing 97·3 mg/kg Zn. Tissue Zn concentrations significantly increased as dietary Zn levels increased from 44·5 to 254·7 mg/kg. Retention of Zn in hepatopancreas increased with dietary Zn levels up to 68·5 mg/kg and then significantly decreased. Moreover, inadequate dietary Zn (44·5 and 56·9 mg/kg) reduced antioxidation markers including total superoxide dismutase (SOD) and Cu/Zn SOD activities and total antioxidant level. Crabs fed the diet with 44·5 mg/kg Zn also showed significantly lower expression of genes involved in antioxidant status, such as Cu/Zn SOD, glutathione peroxidase, catalase and thioredoxin than those fed diets containing 68·5 and 97·3 mg/kg Zn. The highest activities of phenoloxidase and alkaline phosphatase were recorded in crabs fed the diets containing 68·5 and 97·3 mg/kg Zn. Expression levels of prophenoloxidase and toll-like receptor 2 were higher in crabs fed the 97·3 mg/kg Zn diet compared with crabs fed the other diets. Based on PWG alone, the optimal dietary Zn level was estimated to be 82·9 mg/kg, with 68·5 to 97·3 mg/kg recommended for maintaining optimal Zn bioaccumulation, oxidation resistance and innate immune response of juvenile mud crabs.
An increasing number of studies have described the relationship between celiac disease and schizophrenia. Based on the reported correlations and the overlapping linkage regions on 19p13, the myosin IXB gene (MYO9B) can be considered a highly relevant positional and functional candidate gene for schizophrenia. The present work was undertaken to investigate the association of the MYO9B gene with schizophrenia in a Chinese population.
Methods
A total of 329 patients with schizophrenia and 350 healthy control subjects in a Chinese population were recruited. A PCR-based RFLP protocol was applied to genotype 7 single nucleotide polymorphisms (SNPs), including rs7249490, rs7256689, rs2279007, rs8113494, rs2305767, rs1545620 and rs2305764, in the MYO9B gene to investigate their association with schizophrenia.
Results
The X2 goodness-of-fit test showed that the genotypic distributions of all 7 SNPs were in Hardy-Weinberg equilibrium in both the patient group and the control group. Disease association was shown for rs8113494 (X2=12.77, P=0.0003, OR=1.89, 95% CI 1.33-2.68) and rs1545620 (X2=15.44, P=8.379e-5, OR=1.65, 95% CI 1.29-2.12), while rs2279007 was associated with schizophrenia in the female subjects (X2=4.637, P=0.031, OR=0.69, 95% CI 0.49-0.97) but not in the male subjects (X2=1.082, P=0.299, OR=0.85, 95% CI 0.63-1.15).
Conclusions
The present work shows that the polymorphisms of the MYO9B gene are likely to confer susceptibility to schizophrenia. Because the MYO9B gene has been found to be highly expressed in the tight junction gate, it could be considered as a meeting point for the interaction between environmental and genetic factors in the pathogenesis of schizophrenia.
An increasing number of studies have described the relationship between velo-cardio-facial syndrome (VCFS) and schizophrenia. in a family-based study, we found that rs10314, a single nucleotide polymorphism (SNP) present in the 3’-flanking region of the CLDN5 gene, was associated with schizophrenia among a Chinese population. High false positive rate is a common problem with the association study of human diseases. It is very important to replicate an initial finding with different samples and experimental designs.
Methods:
A total of 749 patients with schizophrenia and 383 age and sex matched healthy control subjects in Chinese population were recruited. PCR-based RFLP protocol was applied to genotype rs10314 to see its disease association.
Results:
The χ2 goodness-of-fit test showed that the genotypic distributions of rs10314 were in Hardy-Weinberg equilibrium in both the patient group (χ2=1.12, P=0.289) and the control group (χ2=0.22, P=0.639). rs10314 was associated with schizophrenia with an odds ratio (OR) of 1.32 in the male subjects (χ2=5.45, P=0.02, 95% CI 1.05-1.67) but not in the female subjects (χ2=0.64, P=0.425, OR=1.14, 95% CI 0.83-1.57). the χ2 test showed a genotypic association only for combined samples (χ2=7.80, df=2, P=0.02). SNP rs10314 is a G to C base change. Frequency of the genotypes containing the C allele was significantly higher in the patient group than in the control group.
Conclusions:
The present work shows that the CLDN5 gene polymorphism is more likely to be involved in schizophrenic men than women, suggesting that this gene may contribute to the gender differences in schizophrenia.