SNaPshot Technique Research Articles

Study on the Polymorphic Loci of Explosive Strength-Related Genes in Elite Wrestlers.

This investigation aimed to explore the relationship between Chinese elite wrestlers and the polymorphic loci of explosive strength genes, and to further explore the feasibility of its application to athlete selection. The snapshot technique was used to resolve the polymorphic loci of explosive power genes in the wrestler group (59 elite wrestlers) and the control group (180 ordinary college students), and to analyze the genotype frequencies and allele frequencies of each group. A chi-square test was performed on the genotype and allele distribution data of each group to analyze the loci of explosive power genes that were associated with elite wrestlers. The loci that had an association with elite wrestlers were combined with the genotyping data, and the dominance ratios of the genotypes were calculated using the chi-square test to determine the dominant genotypes associated with elite wrestlers. The VDR gene rs2228570 locus exhibited statistically significant differences in genotype and allele distributions between elite wrestlers and the general population (p < 0.01). At the rs2228570 locus of the VDR gene, the difference between the CC genotype and other genotypes was statistically significant (p < 0.05). The rs2228570 locus of the VDR gene was identified as the locus associated with Chinese elite wrestlers. The polymorphism of the VDR gene can be used as a biomarker for Chinese wrestlers, and the CC genotype can be used as a molecular marker for the selection of Chinese elite athletes in this sport. However, expanding the sample size of elite athletes is necessary to further validate the scientific validity and feasibility of these findings.

A method of identifying the high-risk mutations of sudden cardiac death at KCNQ1 and KCNH2 genes

Sudden Cardiac Death (SCD) often shows negative anatomy results after a systemic autopsy and the gene mutations of potassium channel play a key role in the etiology of SCD. We established a feasible system to detect SCD-related mutations and investigated the mutations at KCNQ1 and KCNH2 genes in the Chinese population. We established a mutation detection system combined with multiplex PCR, SNaPshot technique, and capillary electrophoresis. We genotyped 101 putative mutations at KCNQ1 and KCNH2 genes in 60 SCD of negative anatomy and 50 controls using the established assay and compared Odd Ratio (OR). Four coding variants were identified in the KCNQ1 gene: S546S, I145I, P448R, and G643S. The mutations of I145I and S546S did not differ significantly in the SCD compared with controls. 21 SCD individuals (35 %) and 1 control individual (2 %) showed a genotype of C/G at P448R (OR = 17.5, 95 % CI [2.40–127.82]). 24 SCD individuals (40 %) and 1 control individual (2 %) showed a genotype of C/G at G643S (OR = 20.0, 95 % CI [2.75–145.25]). We established a robust assay for rapid screening the putative SCD-related mutations in KCNQ1 and KCNH2 genes. The new assay in our study is easily amenable to the majority of laboratories without the need for new specialized equipment. Our method will meet the increasing requirement of mutation screening for SCD in regular DNA laboratories and will help screen mutations in those dead of SCD and their relatives.

Association between FOXP3 polymorphisms and expression and neuromyelitis optica spectrum disorder risk in the Northern Chinese Han population.

Forkhead box P3 (FOXP3) plays a critical role in the pathogenesis of autoimmune disorders. In the present study, we genotyped three single-nucleotide polymorphisms, namely, rs2232365, rs3761548, and rs3761549, to determine the relationship between FOXP3 polymorphisms and neuromyelitis optica spectrum disorder (NMOSD) susceptibility among the Northern Chinese Han population. We genotyped single nucleotide polymorphisms at loci of the FOXP3 gene (rs2232365, rs3761548, and rs3761549136) in 136 NMOSD patients and 224 healthy subjects using the multiplex SNaPshot technique. Allele, genotype, and haplotype frequencies were compared. qPCR was used to analyze the mRNA expression levels of FOXP3 in the peripheral blood mononuclear cells of 63 NMOSD patients and 35 healthy subjects. Non-parametric tests were used to test the FOXP3 mRNA expression across the different groups. The minor allele frequency (MAF) of G in rs2232365 was markedly lower in the NMOSD group than in the control group (odds ratio [OR] = 0.57, 95% confidence interval [95% CI]: 0.41-0.79, p = 0.001). Using genetic (codominant, dominant, and recessive) models and performing haplotype analyses, the MAF of G in rs2232365 was shown to be associated with protection against NMOSD in this population. Furthermore, haplotype analysis revealed that the haplotype GCT and the rs2232365, rs3761548, and rs3761549 alleles predicted protection against NMOSD (OR = 0.63, 95% CI = 0.41-0.97, p = 0.038). The proportions of the three genotypes of rs2232365 (p = 0.001) were not significantly different between the moderate-to-severe (Expanded Disability Status Scale (EDSS) ≥ 3 points) and mild (EDSS < 3 points) groups. Evidently, the proportion of patients with the AA genotype (64.3%) among the rs2232365 patients was significantly greater in the moderate-to-severe group than in the mild group (36.4%). However, the proportion of patients with the GG genotype (15.2%) among the rs2232365 patients was significantly greater in the mild group than in the moderate-to-severe group (2.9%). The mRNA expression of FOXP3 was markedly greater in the NMOSD group than in the control group (p = 0.001). Nevertheless, acute non-treatment patients exhibited lower FOXP3 mRNA expression than healthy controls and patients in the remission group (p = 0.004 and 0.007, respectively). FOXP3 polymorphisms and haplotypes are related to NMOSD susceptibility among the Han Chinese population. The minor allele G of FOXP3 rs2232365 and the haplotype GCT are associated with protection against NMOSD. The GG genotype may decrease the severity of NMOSD, whereas the AA genotype is related to moderate-to-severe NMOSD. FOXP3 mRNA expression is greater in patients with NMOSD than in healthy controls. However, it is decreased in acute non-treatment patients compared with healthy controls.

Interferon Regulatory Factor 5 Gene Polymorphisms and mRNA Expression Levels Are Associated with Neuromyelitis Optica Spectrum Disorder.

Interferon regulatory factor 5 (IRF5) is a critical transcription factor in the toll-like receptor signaling pathway. It is associated with autoimmune disorders, such as rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. However, the relationship between the functional single nucleotide polymorphisms (SNPs) of IRF5 and its mRNA expression level in patients with neuromyelitis optica spectrum disorder remains unclear. The present study aimed to investigate the relationship between polymorphisms and mRNA expression levels of the IRF5 gene with the incidence of neuromyelitis optica spectrum disorder (NMOSD) in northern Chinese Han people. Two loci of the IRF5 gene (rs2004640 and rs2280714) of 164 patients with NMOSD and 269 healthy subjects were genotyped using the multiple SNaPshot technique. The frequencies of alleles, genotypes, and haplotypes were compared. Stratified analysis was performed according to age, sex, AQP4 status, onset age, and Expanded Disability Status Scale (EDSS) score. The IRF5 mRNA levels in peripheral blood mononuclear cells (PBMCs) of 64 NMOSD patients (32 patients in the acute stage and 32 patients in the remission stage) and 35 healthy subjects were detected by real-time PCR. The association of SNP polymorphisms with the mRNA expression level was determined by nonparametric tests. Allele and genotype frequency distributions of rs2004640 showed significant differences between both groups. Compared to healthy controls, the frequency of rs2004640 T allele markedly increased in patients (OR = 1.51, 95% CI = 1.09-2.08, P = 0.005). Minor allele T and GT genotype of rs2004640 that significantly increases the risk of NMOSD were discovered using genetic inheritance models (codominant, dominant, and overdominant) and haplotype analyses. Subsequent haplotype analyses revealed that the major haplotype "T-A" containing the risk alleles (the SNP sequence of the alleles was rs2004640 and rs2280714) had adverse effects on NMOSD. Based on the stratification analysis according to the EDSS score, the GT genotype frequency in the EDSS ≥ 4 group (38.2%) was markedly lower than that in the EDSS < 4 group (61.8%) (OR = 0.32, 95% CI = 0.15-0.68, P = 0.0054), with a significant difference. The IRF5 mRNA expression level was increased in NMOSD patients compared to that in normal subjects. IRF5 gene polymorphisms may be tightly associated with the genesis and progression of NMOSD in northern Chinese Han people. IRF5 mRNA expression was increased in patients with NMOSD and significantly increased in patients with acute phase. Perhaps IRF5 expression levels can be used as a predictor of disease activity in the future.

Influence of PCDH9 (rs9540720) and narcissistic personality traits on the incidence of major depressive disorder in Chinese first-year university students: findings from a 2-year cohort study.

Objective: The objective of this study was to explore the influence of the polymorphism of the protocadherin 9 (PCDH9) gene and the narcissistic personality trait (NPT) on the risk of major depressive disorder (MDD) in Chinese first-year university students. Methods: A 2-year cohort study was conducted among Chinese first-year university students who were enrolled in 2018 from two universities in Shandong Province, China. The snapshot technique was used to detect the genotypes of PCDH9 (rs9540720). The Chinese version of the Composite International Diagnostic Interview was used for the MDD assessment. The NPTs were measured by 11 items based on DSM-IV. Patient Health Questionnaire-9 and the Beck Anxiety Inventory were used to assess depressive and anxiety symptoms, respectively. Logistic regression modeling was carried out to examine the relationship between rs9540720, NPTs, and the incidence of MDD. Results: A total of 5,327 students participated in the baseline and follow-up studies and provided their blood samples. PCDH9 (rs9540720) (ORGG+GA = 2.33, 95% CI: 1.35-4.02) and NPTs (OR5-9 = 2.26, 95% CI: 1.40-3.64) increased the risk of MDD onset. There was no multiplicative interaction between NPTs and Rs9540720 (OR = 1.51, 95% CI: 0.30-7.63). Furthermore, there was no additive interaction between them (RERI = 2.40, 95% CI: -0.82-5.62; AP = 0.47, 95% CI: -0.04-0.97; and S = 2.37, 95% CI: 0.54-10.33). Conclusion: PCDH9 (rs9540720) and more NPTs are the risk factors for the incidence of MDD in Chinese first-year university students.

Мутации 2282del4, R501X, R2447X, S3247X филлагрина при атопическом дерматите

Atopic dermatitis (AD) is a widespread multifactorial genetically determined inflammatory skin disease caused by, among other causes, impaired functions of the epidermal barrier. Loss-of-function mutations of the filaggrin gene (important component of the natural moisturizing factor system) that arrest production of the full-fledged precursor protein are associated with AD. This work investigated the frequency of the 2282delACTG (rs558269137), R501X (rs61816761), S3247X (rs150597413), R2447X (rs138726443) loss-of-function mutations of the filaggrin gene in adult European patients with moderate to severe AD. The study involved 99 adult patients of both sexes aged 18-68 years. The mutations were identified with the help of the purpose-developed method of multiplex analysis of four single nucleotide polymorphisms that relies on the SNaPshot technique (minisequencing). The incidence of loss-of-function mutation of filaggrin 2282delACTG was 5.3%, that of R501X - 0.5%, R2447X - 1%. No S3247X mutation was detected in the sample. Collation of the results with Russian and European samples revealed a comparable level of the analyzed filaggrin gene mutations in adult patients with AD from different regions of the Russian Federation.

Chronic osteomyelitis risk is associated with NLRP3 gene rs10754558 polymorphism in a Chinese Han Population

BackgroundSingle nucleotide polymorphisms (SNPs) in the nucleotide-binding domain leucine-rich repeat protein-3 (NLRP3) gene are reported to be linked to many inflammatory disorders. However, uncertainty persists over the associations between these SNPs and susceptibilities to chronic osteomyelitis (COM). This study aimed to investigate potential relationships between NLRP3 gene SNPs and the risks of developing COM in a Chinese Han cohort.Methods The four tag SNPs of the NLRP3 gene were genotyped in a total of 428 COM patients and 368 healthy controlsusing the SNapShot technique. The genotype distribution, mutant allele frequency, and the four genetic models (dominant, recessive, homozygous, and heterozygous) of the four SNPs were compared between the two groups.ResultsA significant association was found between rs10754558 polymorphism and the probability of COM occurence by the heterozygous model (P = 0.037, odds ratio [OR] = 1.541, 95% confidence interval [CI] = 1.025–2.319), indicating that rs10754558 may be associated with a higher risk of developing COM.In addition, possible relationship was found between rs7525979 polymorphism and the risk of COM development by the outcomes of homozygous (P = 0.073, OR = 0.453, 95% CI = 0.187–1.097) and recessive (P = 0.093, OR = 0.478, 95% CI = 0.198–1.151) models, though no statistical differences were obtained.ConclusionsOutcomes of the present study showed, for the first time, that rs10754558 polymorphism of the NLRP3 gene may increase the risk of COM development in this Chinese Han population, with genotype CG as a risk factor. Nonetheless, this conclusion requires verification from further studies with a larger sample size.

Identification of antimicrobial resistance determinants in Mycobacterium leprae using SNaPshot technique

Objective. The development of a method for identifying frequent genetic determinants of Mycobacterium leprae clinical isolates resistance to three groups of antimicrobial drugs: dapsone, rifampicin and fluoroquinolones using SNaPshot technique. Materials and Methods. The study included M. leprae clinical isolates obtained from skin biopsies of patients undergoing leprosy treatment at the Sergiev Posad branch of the State Research Center of Dermatovenereology and Cosmetology of the Ministry of Health of Russia. One of the patients has the diagnosis ‘Leprosy, lepromatous type’, the second one has the diagnosis ‘Leprosy. Multibacterial leprosy, borderline’. The selection of oligonucleotide sequences and hybridization probes for M. leprae drug resistance-determining genomic regions PCR was carried out according to information from the BLAST, the synthesis was performed by ‘Synthol’ LLC (Russia). The first PCR was carried out using the QIAGEN Multiplex PCR kit (Germany), and subsequent SNP analysis using the “SNaPshot” kit at the ABI 3130 Genetic Analyzer. The data obtained were depicted using Peak Scanner Software. Results. A method of six most frequent genetic determinants of antimicrobial resistance of M. leprae identification in patient skin biopsies was developed. Drug resistance of the disease is caused by the M. leprae genome mutations located in drug resistance-determining regions in the genomic loci: folP1 for dapsone, rpoB for rifampicin and gyrA for fluoroquinolones resistance. The SNP polymorphisms stipulated drug resistance as a result of changes in the amino acid sequence of the transcribed protein, are determined in following M. leprae genome regions: rpoB: D441, H451, S456; gyrA: A91; folp1: T53, T55. The technique is SNaPshot determination of nine SNP performed on DNA isolated from the patient’s biological material. The control reaction confirming the presence of M. leprae DNA in the sample is PCR using primers to the non-coding repeat element of the leprosy genome RLEP. The pilot application of the technique developed to the samples of clinical material from patients showed the absence of M. leprae resistance determinants to antimicrobial drugs most often used to treat leprosy. Conclusions. The use of a system for rapid identification of leprosy clinical isolates resistance to antimicrobial therapy will personalize the provision of medical care and provide the opportunity to select the optimal chemotherapy regimen, which will lead to increased efficiency of treatment of the disease.

Relationship Between FERMT2, CELF1, COPI, CHRNA2, and ABCA7 Genetic Polymorphisms and Alzheimer's Disease Risk in the Southern Chinese Population.

Alzheimer's disease (AD) is a multi-gene inherited disease, and apolipoprotein E (APOE) ɛ4 is a strong risk factor. Other genetic factors are important but limited. This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations. We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs. Adjusted for sex and age, we found rs6572869 (FERMT2), rs11604680 (CELF1), and rs1317149 (CELF1) were associated with AD risk in the dominant (rs6572869: p = 0.022, OR = 1.55; rs11604680: p = 0.007, OR = 1.68; rs1317149: p = 0.033, OR = 1.50) and overdominant models (rs6572869: p = 0.001, OR = 1.96; rs11604680: p = 0.002, OR = 1.82; rs1317149: p = 0.003, OR = 1.80). rs9898218 (COPI) was associated with AD risk in the overdominant model (p = 0.004, OR = 1.81). Further, rs2741342 (CHRNA2) was associated with AD protection in the dominant (p = 0.002, OR = 0.5) and additive models (p = 0.002, OR = 0.64). Mutations in rs10742814 (CELF1), rs11039280 (CELF1), and rs3752242 (ABCA7) contributed to AD protection. Among them, rs10742814 (CELF1), rs3752242 (ABCA7), and rs11039280 (CELF1) were more significantly associated with AD carrying APOE ɛ4, whereas rs1317149 (CELF1) showed an opposite trend. Interestingly, rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were identified to be relevant with AD carrying APOE ɛ4. Using expression quantitative trait locus analysis, we found polymorphisms in CELF1 (rs10742814 and rs11039280), ABCA7 (rs4147912), HLA-DRB1 (rs2516049), and ADGRF4 (rs1109581) correlated with their corresponding gene expression in the brain. We identified four risk and four protective SNPs associated with AD in the Southern Chinese population, with different correlations between APOE ɛ4 carriers and non-carriers. rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were associated with AD carrying APOE ɛ4.

Aperture division multispectral camera for the Earth's reflected solar radiation observation based on the Lagrange L1 point of the Earth-Moon system.

We propose an aperture division multispectral camera for Earth observation (EAMC) based on the Lagrange L1 point of the Earth-Moon system to measure the Earth's reflected solar radiation (RSR), quantify the effective radiative forcing (ERF) and establish the pixel-scale multispectral angular distribution model (ADM) of the Earth's radiance. The EAMC adopts the snapshot technique to provide multispectral images in the 360-920 nm wavelength, employing nine subsystems sharing a primary system. The camera can capture the entire Earth's two-dimensional morphology and spectral fingerprints at a 10 km spatial resolution, with all spectral images acquired concurrently on a single detector. The camera's optical system is designed and simulated, and the stray light is analyzed and suppressed. Simulation and analysis results show that the camera can obtain high-quality images of the Earth's disk with a 2.5° field of view (FOV). The stray light is suppressed to less than 0.05% of the observed multispectral Earth radiation. The novel EAMC provides a new way to generate climate-relevant knowledge from the perspective of global Earth observation and has great potential for other applications in space-based remote sensing spectral imaging.

Association of BRCA2 Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population.

Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex congenital disease affected by gene and environmental factors. Hereditary factors play an important role; however, its specific pathogenic genes and regulatory mechanisms remain unclear. In this study, we aimed to study the association between eight potentially functional single nucleotide polymorphisms (SNPs) of BRCA2 and MGMT genes and NSCL/P in a Chinese population through a case-control study. Materials and Methods: To investigate the relationship between potentially functional SNPs of the BRCA2 and MGMT genes and NSCL/P, we selected 200 affected patients and 200 unrelated normal controls in a Chinese population. The BRCA2 gene SNPs (rs11571836, rs144848, rs7334543, rs15869, rs766173, and rs206118) and MGMT gene SNPs (rs12917 and rs7896488) were genotyped by SNaPshot technique and then a preliminary bioinformatics analysis of the positive results was conducted. Results: Our study identified for the first time that BRCA2 was associated with NSCL/P in a Chinese population and rs11571836 G allele was protective against NSCL/P. Under four genetic models, rs11571836 had a significant correlation with NSCL/P. Preliminary bioinformatics analysis revealed that four potential matching sites (miR-1244, miR-1323, miR-562, and miR-633) were found for rs11571836 located in the 3' untranslated region of BRCA2. Conclusions: These results support the role of polymorphisms of BRCA2 in susceptibility to NSCL/P and its progression, but further research is necessary to elucidate the mechanism of the BRCA2 gene in the pathogenesis of NSCL/P.

Multi-modal imaging using a cascaded microscope design.

We present a multi-modal fiber array snapshot technique (M-FAST) based on an array of 96 compact cameras placed behind a primary objective lens and a fiber bundle array. Our technique is capable of large-area, high-resolution, multi-channel video acquisition. The proposed design provides two key improvements to prior cascaded imaging system approaches: a novel optical arrangement that accommodates the use of planar camera arrays, and a new ability to acquire multi-modal image data acquisition. M-FAST is a multi-modal, scalable imaging system that can acquire snapshot dual-channel fluorescence images as well as differential phase contrast measurements over a large 6.59 mm × 9.74 mm field-of-view at 2.2-μm center full-pitch resolution.

Sequential advanced receiver autonomous integrity monitoring method considering the optimal sample size

The integrity monitoring performance of Receiver Autonomous Integrity Monitoring (RAIM) degrades when insufficient satellites are visible, which may cause RAIM to fail to support the approach procedure with vertical guidance service. We propose a sequential advanced receiver autonomous integrity monitoring (S-ARAIM) method to improve the integrity monitoring capability and availability. We first introduce a sample size to a dominant snapshot technique, advanced RAIM (ARAIM), to formulate cumulative test statistics for fault detection. The sample size is then determined to maximize the fault detection capability, including the response speed and sensitivity to minor faults. Meanwhile, the optimal sample size minimizes the undetected fault magnitude bound when no fault is declared. In this manner, S-ARAIM combines the advantage of snapshot RAIM and sequential RAIM in detecting severe pulse and small persistent faults. Additionally, we derive a protection level to envelop the estimate error under the constraints of continuity and integrity requirements. Experiments validate the fault detection performance under single-satellite-fault and dual-satellite-fault scenarios. Compared with least square residual RAIM and ARAIM, S-ARAIM improves the integrity availability by 45.91% and 5.64%, respectively.

HSP70 and TNF Loci Polymorphism Associated with the Posner-Schlossman Syndrome in a Southern Chinese Population.

Previous studies have shown that HLA gene polymorphisms are associated with the pathogenesis of the Posner-Schlossman syndrome (PSS). This study was aimed at evaluating the associations between HLA-III gene polymorphisms and PSS in a southern Chinese Han population. A total of 150 PSS patients and 183 healthy controls were included in this study. Twenty-one single nucleotide polymorphisms (SNPs) of HLA-III genes (including HSP70-1, HSP70-2, HSP70-hom, TNF-α, TNF-β, C2, and CFB) were genotyped using the SNaPshot technique. Our study showed that the frequencies of G allele at rs909253, A allele at rs1041981, and G allele at rs2844484 of TNF-β in the patient group were significantly higher than those in healthy controls (Corrected P (P c ) = 0.040, OR = 1.45; P c = 0.033, OR = 1.45; P c = 0.045, OR = 1.58, respectively). The frequency of T allele at rs12190359 of HSP70-1 was significantly lower in PSS patients than those in healthy controls (P c = 0.018 and OR = 0.10). The frequencies of the CCT haplotype of HSP70-1 gene (rs1008438-rs562047-rs12190359) and the ACCCTTT haplotype of HSP70 gene (rs2227956-rs1043618-rs1008438-rs562047-rs12190359-rs2763979-rs6457452) were significantly lower in PSS patients than those in healthy controls (P c = 0.024, OR = 0.10; P c = 0.048, OR = 0.10, respectively). In conclusion, the G allele at rs909253, A allele at rs1041981, and G allele at rs2844484 of TNF-β gene might be risk factors for PSS, while the T allele at rs12190359 of HSP70-1 gene and specific haplotypes of the HSP70-1 and HSP70 genes might be protective factors for PSS.

Experimental Measurements of Oil Films in a Dynamically Loaded Journal Bearing

This article describes the design of a journal bearing test platform capable of high-accuracy film thickness measurements via ultrasonic transducers permanently embedded in both the bearing and rotating shaft. A bespoke hydraulic loading system with programmable valves allowed the application of dynamic loads with defined loading patterns, including the simulation of loading patterns found in real components such as automotive connecting rod bearings. Tests under a range of rotation speeds, temperatures, and loading profiles allowed the detailed analysis of film thickness response to rapidly changing loads. Unlike conventional methods, the ultrasonic technique offers a noninvasive direct measurement of the shaft–bearing interface, thus enabling the study of phenomena such as squeeze film effects. Measurements were achieved by applying a novel referencing method, referred to as the “snapshot technique”. Via this method, squeeze time was shown to reduce with increasing shaft rotation speed, applied load, and bearing temperature. Results were compared against inductive sensors and numerical techniques and good agreement was observed.

Association of the IL-6 gene rs1800796 polymorphism with recurrent pregnancy loss in a population of women from northwestern China: a case-control study

We aimed to identify whether IL-1β (rs1143627, rs1143634 and rs16944), IL-6 (rs1800796), IL-10(rs1800872 and rs1800896), and vascular endothelial growth factor (VEGF) (rs1570360) gene polymorphisms were risk factors for recurrent pregnancy loss (RPL) in a population of women in northwestern China. A total of 150 women with a history of two or more unexplained and consecutive spontaneous abortions before their 24th gestational week and 150 age-matched women with at least two normal pregnancies and no history of pregnancy loss were included in the present study as cases and controls, respectively. We extracted genomic DNA from peripheral blood, and executed genotyping with the SNaPshot technique. Logistic regression analysis was conducted to determine the odds ratios (ORs) of the associations between the polymorphisms and RPL. Of the seven polymorphisms we studied, only IL-6 rs1800796 showed a statistically significant association with RPL, as we noted an elevated risk of RPL with the G allele (OR = 1.57; 95% CI, 1.10–2.24; p = .01). The risk of RPL in women with the GG + CG genotype (OR = 1.96; 95% CI, 1.19–3.21; p = .01) was also higher than that in women with the CC genotype. The present study thus indicated that the IL-6 gene rs1800796 polymorphism may serve as an important risk factor for RPL in this group of women from northwestern China. IMPACT STATEMENT What is already known on this subject? Cytokine and vascular endothelial growth factor (VEGF) gene polymorphisms may affect the risk of recurrent pregnancy loss (RPL) by modulating cytokine and VEGF expression. What do the results of this study add? The study results showed that the IL-6 rs1800796 single-nucleotide polymorphism constituted a risk factor for RPL in a population of women in northwestern China. What are the implications of these findings for clinical practice and/or further research? This study clearly reflects clinical significance as it provides a theoretical basis for the early screening of RPL by revealing that the IL-6 gene rs1800796 polymorphism increased the risk of RPL in women in northwestern China.

An ensemble-policy non-intrusive load monitoring technique based entirely on deep feature-guided attention mechanism

Non-intrusive load monitoring (NILM), as an important part of intelligent electricity consumption, improves the cognitive level of the load by analyzing the bus power in a specific range to obtain refined electricity consumption data at appliance level in that range, such as the number of loads, load categories, load operating status and corresponding energy consumption. For a long time, the research on NILM algorithm has been quite in depth, especially with the deep learning method being used in NILM, breakthrough progress has been made. In this paper, an integrated policy non-intrusive load monitoring technique based entirely on deep feature-guided attention mechanism is constructed based on sequence-to-point deep neural networks. Firstly, according to the operating cycle characteristics of different appliances, the data are segmented with different sliding windows and the integerized power values are mapped to high-dimensional feature vectors by word embedding, which transforms the value regression problem of decomposed power into a multiclassification problem to find the probability of decomposed power values at each discrete integer power value. Then the encoder composed of deep residual network is used for multi-layer feature extraction, which is used to obtain richer feature information, and the extracted feature quantities will be sent to the decoder through two paths respectively, one is mapped to the power feature space through word embedding as the input to the decoder; the other is sent to the decoder based entirely on the attention mechanism through convolution as the checked vector K and the content vector V. The decoder obtains the information with the highest relevance to the current moment by assigning weights to the before and after information, and thus decodes the final load decomposition result. Finally, this paper introduces a snapshot technique to obtain an inexpensive multi-model integration strategy, which improves the generalization ability of the model and the accuracy of the load decomposition. The effectiveness of the proposed method is verified by experiments on the REDD dataset and UK-DALE dataset.

Association Among MIF, IFIH1, and IL6 Gene Polymorphisms and Non-Segmental Vitiligo in a Chinese Han Population.

ObjectiveThe aim of the present study was to investigate the association of single-nucleotide polymorphisms (SNPs) in the macrophage migration inhibiting factor (MIF), interferon-induced Helicase C domain 1 (IFIH1), interleukin-6 (IL6) genes, circulating levels with non-segmental vitiligo (NSV) susceptibility in the Chinese population, and to analyze the relationships between gene polymorphisms and clinical characteristics of vitiligo.MethodsIn this study, genotyping was conducted in 155 patients with NSV and 117 unaffected controls using polymerase chain reaction and snapshot technique. Serum concentrations were determined by ELISA kit.ResultsThere were strong associations between IFIH1 H843R and IL6-572G/C polymorphisms and NSV susceptibility (p = 0.013; p = 0.009). In contrast to previous studies, we found no significant difference in the MIF-173G/C polymorphism between the two groups. In addition, the frequency of allelic distribution for MIF-173G/C in patients with active NSV was significantly higher than stable NSV (p = 0.011), and IFIH1 H843R with early-onset (≤ 20), active or family history of NSV was significantly higher than late-onset (> 20), stable or no family history of NSV (p = 0.033; p = 0.045; p = 0.039). Serum concentrations of MIF were higher in patients with active NSV, serum IFIH1 and IL6 concentrations were related to the presence of polymorphisms in patients with NSV (p = 0.009; p = 0.011).ConclusionOur results suggested that IFIH1 H843R and IL6-572G/C gene polymorphisms and expression levels are obviously correlated with the onset of NSV. MIF-173G/C allele and serum concentrations may be associated with active NSV, and IFIH1 H843R allele may be associated with youth, active or family history of NSV.

A Covariance Matrix Reconstruction Approach for Single Snapshot Direction of Arrival Estimation.

Achieving accurate single snapshot direction of arrival (DOA) information significantly improves communication performance. This paper investigates an accurate and high-resolution DOA estimation technique by enabling single snapshot data collection and enhancing DOA estimation results compared to multiple snapshot methods. This is carried out by manipulating the incoming signal covariance matrix while suppressing undesired additive white Gaussian noise (AWGN) by actively updating and estimating the antenna array manifold vector. We demonstrated the estimation performance in simulation that our proposed technique supersedes the estimation performance of existing state-of-the-art techniques in various signal-to-noise ratio (SNR) scenarios and single snapshot sampling environments. Our proposed covariance-based single snapshot (CbSS) technique yields the lowest root-mean-squared error (RMSE) against the true DOA compared to root-MUSIC and the partial relaxation (PR) approach for multiple snapshots and a single signal source environment. In addition, our proposed technique presents the lowest DOA estimation performance degradation in a multiple uncorrelated and coherent signal source environment by up to 25.5% with nearly negligible bias. Lastly, our proposed CbSS technique presents the best DOA estimation results for a single snapshot and single-source scenario with an RMSE of against the true DOA compared to root-MUSIC and the PR approach with nearly negligible bias as well. A potential application for CbSS would be in a scenario where accurate DOA estimation with a small antenna array form factor is a limitation, such as in the intelligent transportation system industry and wireless communication.

5-Amino-4-Imidazolecarboxamide Ribonucleotide Transformylase/IMP Cyclohydrolase Polymorphisms Affect the Susceptibility to Multiple Myeloma.

The upregulation of 5-amino-4-imidazolecarboxamide ribonucleotide transformylase/IMP cyclohydrolase (ATIC) may affect tumorigenesis and multiple myeloma (MM) development. A total of 97 patients with MM and 102 healthy control patients were included in the study. The SNaPshot technique was used to detect the ATIC gene polymorphisms. Linkage disequilibrium (LD) and haplotype analyses were conducted using SHEsis software. The genotype distribution or allele frequency of rs3772078 and rs16853834 was significantly different between the patients with MM and the healthy control patients (all P < .05). The rs16853834 A allele, rs3772078 CT genotype, and C allele were associated with a decreased risk of MM (all P < .05). Five single-nucleotide polymorphism combinations showed strong LD. Three haplotypes were associated with MM risk (all P < .05). We found that ATIC rs7604984 was significantly associated with serum lactate dehydrogenase levels (P = .050). We determined that the rs3772078 and rs16853834 polymorphisms are associated with a decreased risk of MM.