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Strong association of SLCIA1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

Asian Journal of Andrology 2017年第4期19卷 486-492页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Hao Sun ke-qin lin Xiao-qin Huang Kai Huang Jia-You Chu Zhao-qing Yang Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive Medical Research Centre People's Hospital of Shiyan Shiyan 442000 China

Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism （SNP） association studies （GWAS） have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility （asthenozoospermia, oligozoospermia, and oligoasthenozoospermia） in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited, rs6476866 in SLCIA1 （P = 1.919E-4, OR = 0.5905, 95% Ch 0.447-0.78） and rs10129954 in DPF3 （P = 0.0023, OR = 2.199, 95% Ch 1.311-3.689） were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 （P= 0.0016, OR = 1.479, 95% CI： 1.075-2.033） and between oligoasthenozoospermia and rs2477686 in PEXIO （P= 0.0011, OR = 2.935, 95% Ch 1.492-5.775）. In addition, six SNPs （rs215702 in LSMS, rs6476866 in SLCIA1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEXIO, and rs10841496 in PED3A） were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.

关键词： candidate SNPs Han Chinese idiopathic male infertility semen quality

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HLA polymorphism of the Zhuang population reflects the common HLA characteristics among Zhuang-Dong language-speaking populations

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第6期12卷 428-435页

作者： Li SHI Xiao-qin HUANG Lei SHI Yu-fen TAO Yu-feng YAO Liang YU ke-qin lin Wen YI Hao SUN Katsushi TOKUNAGA Jia-you CHU Institute of Medical Biology Chinese Academy of Medical Sciences & Peking Union Medical College Kunming 650118 China Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan

A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.

关键词： Human leukocyte antigen (HLA) alleles Haplotypes Zhuang population

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Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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Journal of Genetics and Genomics 2013年第10期40卷 543-548页

作者： Xiao-Chen Chen Hao Sun Chang-Jun Zhang Ying Zhang ke-qin lin Liang Yu Lei Shi Yu-Fen Tao Xiao-qin Huang Jia-You Chu Zhao-qing Yang Department of Medical Genetics Institute of Medical BiologyChinese Academy of Medical Sciences and Peking Union Medical College935 Jiaoling RoadKunming 650118YunnanChina Reproductive Medicine Center Hubei University of MedicineShiyan 442000China

The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2）（Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI）（Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.

关键词： CAG Gene Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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Application of texture signatures based on multiparameter-magnetic resonance imaging for predicting microvascular invasion in hepatocellular carcinoma:Retrospective study

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1309-1318页

作者： Hai-Yang Nong Yong-Yi Cen Mi qin Wen-Qi qin You-Xiang Xie lin Li Man-Rong Liu ke Ding Department of Radiology The Third Affiliated Hospital of Guangxi Medical UniversityNanning 530031Guangxi Zhuang Autonomous RegionChina Department of Radiology The Affiliated Hospital of Youjiang Medical University for NationalitiesBaise 533000Guangxi Zhuang Autonomous RegionChina Department of Radiology The First Affiliated Hospital of Guangxi University of Traditional Chinese MedicineNanning 530031Guangxi Zhuang Autonomous RegionChina Department of Hepatobiliary Surgery The Third Affiliated Hospital of Guangxi Medical UniversityNanning 530031Guangxi Zhuang Autonomous RegionChina Department of Ultrasound The Third Affiliated Hospital of Guangxi Medical UniversityNanning 530031Guangxi Zhuang Autonomous RegionChina

BACKGROUND Despite continuous changes in treatment methods,the survival rate for advanced hepatocellular carcinoma(HCC)patients remains low,highlighting the importance of diagnostic methods for *** To explore the efficacy of texture analysis based on multi-parametric magnetic resonance(MR)imaging(MRI)in predicting microvascular invasion(MVI)in preoperative *** This study included 105 patients with pathologically confirmed HCC,categorized into MVI-positive and MVI-negative *** employed Original Data Analysis,Principal Component Analysis,linear Discriminant Analysis(LDA),and Non-LDA(NDA)for texture analysis using multi-parametric MR images to predict preoperative *** effectiveness of texture analysis was determined using the B11 program of the MaZda4.6 software,with results expressed as the misjudgment rate(MCR).RESULTS Texture analysis using multi-parametric MRI,particularly the MI+PA+F dimensionality reduction method combined with NDA discrimination,demonstrated the most effective prediction of MVI in *** accuracy in the pulse and equilibrium phases was 83.81%.MCRs for the combination of T2-weighted imaging(T2WI),arterial phase,portal venous phase,and equilibrium phase were 22.86%,16.19%,20.95%,and 20.95%,*** area under the curve for predicting MVI positivity was 0.844,with a sensitivity of 77.19%and specificity of 91.67%.CONCLUSION Texture analysis of arterial phase images demonstrated superior predictive efficacy for MVI in HCC compared to T2WI,portal venous,and equilibrium *** study provides an objective,non-invasive method for preoperative prediction of MVI,offering a theoretical foundation for the selection of clinical therapy.

关键词： Magnetic resonance imaging Hepatocellular carcinoma Texture analysis Microvascular invasion

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Transcriptomic analysis reveals the effects of maternal exposure to bisphenol AF on hypothalamic development in male neonatal mice

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Journal of Environmental Sciences 2024年第7期141卷 304-313页

作者： lin Lv Yuanyuan Li Xuanyue Chen Zhanfen qin State key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China University of Chinese Academy of Sciences Beijing 100049China

Fragmented data suggest that bisphenol AF(BPAF),a chemical widely used in a variety of products,might have potential impacts on the ***,we employed male neonatal mice following maternal exposure to explore the effects of low-dose BPAF on hypothalamic development by *** found that maternal exposure to approximately 50μg/(kg·day)BPAF from postanal day(PND)0 to PND 15 altered the hypothalamic transcriptome,primarily involving the pathways and genes associated with extracellular matrix(ECM)and intercellular adhesion,neuroendocrine regulation,and neurological *** RNA analysis confirmed the changes in the expression levels of concerned ***,we further revealed that low-dose BPAF posed a stimulatory impact on pro-opiomelanocortin(POMC)neurons in the arcuate nucleus of the hypothalamus and induced the browning of inguinal white adipose *** findings indicate that developmental exposure to low-dose BPAF could interfere with hypothalamic development and thereby lead to alterations in the ***,5000μg/(kg·day)BPAF caused slighter,non-significant or even inverse alterations than the low dose of 50μg/(kg·day),displaying a dose-independent *** observations suggest that the the dose-independent effects of BPAF might be associated with oxidative stress and inflammatory responses caused by the high ***,our study highlights a risk of low-dose BPAF to human neuroendocrine regulation and metabolism.

关键词： Bisphenol AF Hypothalamus Transcriptomic alteration Pro-opiomelanocortin(POMC)neurons White adipose tissue browning

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Atomically dispersed calcium as solid strong base catalyst with high activity and stability

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Green Energy & Environment 2024年第10期9卷 1619-1626页

作者： Xiang-Bin Shao Zhi-Wei Xing Si-Yu Liu ke-Xin Miao Shi-Chao Qi Song-Song Peng Xiao-qin Liu lin-Bing Sun State key Laboratory of Materials-Oriented Chemical Engineering Jiangsu National Synergetic Innovation Center for Advanced Materials (SICAM)College of Chemical EngineeringNanjing Tech University30 South Puzhu Road

Solid strong base catalysts are highly attractive for diverse reactions owing to their advantages of neglectable corrosion,facile separation,and environmental ***,their widespread applications are impeded by basic components aggregation and low *** this work,we fabricate single calcium atoms on graphene （denoted as Ca1/G） by use of a redox strategy for the first time,producing solid strong base catalyst with high activity and *** precursor Ca（NO3）2is first reduced to CaO at 400℃ by the support graphene,forming CaO/G with conventional basic sites,and the subsequent reduction at 850℃ results in the generation of Ca1/G with atomically dispersed *** characterizations reveal that Ca single atoms are anchored on graphene in tetra-coordination （Ca–C2–N2） where N is in situ doped from Ca（NO3）*** atomically dispersed Ca,along with their anchoring on the support,endow Ca1/G with high activity and stability toward the transesterification reaction of ethylene carbonate with *** turnover frequency value reaches 128.0 h-1on Ca1/G,which is much higher than the traditional counterpart CaO/G and various reported solid strong bases (2.9–46.2 h-1).Moreover,the activity of Ca1/G is well maintained during 5 cycles,while 60% of activity is lost for the conventional analogue CaO/G due to the leaching of Ca.

关键词： Solid strong base Single Ca atoms Heterogeneous catalysts Transesterification Reaction

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Development of an enhanced online tritium monitoring system using plastic scintillation fiber array

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NUCLEAR SCIENCE AND TECHNIQUES 2024年第10期35卷 1-11页

作者： Cheng, Wen-Yu Deng, ke Zeng, You-Shi Liu, Wei Zhang, qin Chinese Acad Sci Shanghai Inst Appl Phys Shanghai 201800 Peoples R China Univ Chinese Acad Sci Beijing 100049 Peoples R China

Tritium, a radioactive nuclide discharged by nuclear power plants, poses challenges for removal. Continuous online monitoring of tritium in water is crucial for real-time radiation data, given its predominant existence in the environment as water. This paper presents the design, simulation, and development of a tritium monitoring device utilizing a plastic scintillation fiber (PSF) array. Experimental validation confirmed the device's detection efficiency and minimum detectable activity. The recorded detection efficiency of the device is 1.6x10-3\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$1.6\times 10{-3}$$\end{document}, which exceeds the theoretically simulated value of 4x10-4\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$4\times 10{-4}$$\end{document} by four times. Without shielding, the device can achieve a minimum detectable activity of 3165BqL-1\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$3165\,\hbox {Bq}\,\hbox {L}{-1}$$\end{document} over a 1600-second measurement duration. According to simulation and experimental results, enhancing detection efficiency is possible by increasing the number and length of PSFs and implementing rigorous shielding measures. Additionally, reducing the diameter of PSFs can also improve detection efficiency. The minimum detectable activity of the device can be further reduced using the aforementioned methods.

关键词： Tritium Plastic scintillating fiber array Detector WATER SOIL

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Geochemical characteristics,generation,and evolution mechanism of coalbed methane in the south-western Ordos Basin,China

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Frontiers of Earth Science 2024年第2期18卷 296-311页

作者： Yabing lin Yong qin Dongmin MA Shengquan WANG College of Geology and Environment Xi’an University of Science and TechnologyXi’an 710054China key Laboratory of Coalbed Methane Resource and Reservoir Formation Process(the Ministry of Education) China University of Mining and TechnologyXuzhou 221008China Shaanxi Provincial key Laboratory of Geological Support for Coal Green Exploitation Xi’an 710054China

The south-western Ordos Basin is rich in low-middle rank coalbed methane(CBM)resources;while the geochemical characteristics and genetic mechanism of CBM are not ***,according to geological and geochemical test data from gas and coal seam water from CBM wells in Bingchang,Jiaoxun,Huangling,Yonglong,and Longdong minging areas,we systematically studied the geochemical characteristics,generation,and evolution mechanism of CBM in Jurassic Yan’an Formation in the south-western Ordos *** results show that the CH4 content of whole gas is in the range of 42.01%-94.72%.The distribution ranges of theδ^(13)C-CH_(4)value is−87.2‰to−32.5‰,indicating diverse sources of thermogenic gas and biogenic *** microbial methane is mainly generated by a CO_(2)reduction pathway,with certain methyl-type fermentation ***δ^(13)C-CH_(4)has a positive correlation with burial depth,indicating the obvious fractionation of *** relationship between the genetic types and burial depth of the CBM reservoir indicates that the favorable depth of secondary biogenic gas is less than 660 *** Late Cretaceous Yanshanian Movement led to the uplift of the Ordos Basin,and a large amount of thermogenic gas escaped from the edge of the *** the Paleogene Period,the coal reservoir in the basin margin has received recharge from atmospheric precipitation,which is favorable for the formation of secondary biogenic *** deep area,generally under 1000 m,mainly contains residual thermogenic *** intermediate transition zone is mixed *** by the tectonic background,the genetic types of CBM in different mining areas are controlled by the coupling of burial depth,coal rank,and hydrogeological *** Binchang mining area contains biogenic gas,and the development of CBM has achieved initial success,indicating that similar blocks with biogenic gas formation conditions is key to the efficient development of *** research results provide a scientific basis for

关键词： coalbed methane stable isotopes geochemistry generation and evolution mechanism Ordos Basin

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MOF-derived porous graphitic carbon with optimized plateau capacity and rate capability for high performance lithium-ion capacitors

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International Journal of Minerals,Metallurgy and Materials 2024年第2期31卷 395-404页

作者： Ge Chu Chaohui Wang Zhewei Yang lin qin Xin Fan College of Materials Science&Engineering Guilin University of TechnologyGuilin 541004China Institute of Energy Innovation College of Materials Science and EngineeringTaiyuan University of TechnologyTaiyuan 030024China

The development of anode materials with high rate capability and long charge-discharge plateau is the key to improve per-formance of lithium-ion capacitors(LICs).Herein,the porous graphitic carbon(PGC-1300)derived from a new triply interpenetrated co-balt metal-organic framework(Co-MOF)was prepared through the facile and robust carbonization at 1300°C and washing by HCl *** as-prepared PGC-1300 featured an optimized graphitization degree and porous framework,which not only contributes to high plateau capacity(105.0 mAh·g^(−1)below 0.2 V at 0.05 A·g^(−1)),but also supplies more convenient pathways for ions and increases the rate capability(128.5 mAh·g^(−1)at 3.2 A·g^(−1)).According to the kinetics analyses,it can be found that diffusion regulated surface induced capa-citive process and Li-ions intercalation process are coexisted for lithium-ion ***,LIC PGC-1300//AC constructed with pre-lithiated PGC-1300 anode and activated carbon(AC)cathode exhibited an increased energy density of 102.8 Wh·kg^(−1),a power dens-ity of 6017.1 W·kg^(−1),together with the excellent cyclic stability(91.6%retention after 10000 cycles at 1.0 A·g^(−1)).

关键词： metal-organic framework porous graphitic carbon optimized plateau capacity kinetic analysis lithium-ion capacitor

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Tetrabromobisphenol A exerts thyroid disrupting effects but has little overt impact on postnatal brain development and neurobehaviors in mice

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Journal of Environmental Sciences 2024年第8期142卷 1-10页

作者： Shilin Song Yuanyuan Li lin Lv Mengqi Dong Zhanfen qin State key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China College of Resources and Environment University of Chinese Academy of SciencesBeijing 100049China School of Environment Tsinghua UniversityBeijing 100084China

Tetrabromobisphenol A(TBBPA)is a widely used brominated flame *** is evidence showing that TBBPA can exert thyroid disrupting effects in mammals,but different results were also reported,along with inconsistent reports regarding its ***,we investigated thyroid disrupting effects and neurotoxicity of TBBPA(5,50,500μg/(kg·day))to male mice following maternal and direct exposure through drinking water,with the antithyroid drug propylthiouracil(PTU)as the positive *** postnatal day(PND)15,we expectedly observed severe thyroid compensatory hyperplasia and cerebellar developmental retardation in PTU-treated *** highest dose of TBBPA also caused thyroid histological alteration but had no effects on cerebellar development in terms of Purkinje cell morphology and the thickness of the internal granular layer and the molecular layer of the *** puberty and adulthood,the thyroid morphological alterations became more pronounced in the TBBPA-treated animals,accompanied by decreased serum thyroid hormone ***,the 50 and 500μg/(kg·day)TBBPA groups showed a significant decrease in the serum level of serotonin,a neurotransmitter associated with anxiety ***,the highest dose group displayed anxiety-like behaviors in the elevated plus-maze test on PND 35,but this neurobehavioral alteration disappeared on PND ***,no changes in neurobehavioral parameters tested were found in TBBPAtreated animals at puberty and ***,all observations show that TBBPA can exert thyroid disrupting effects but has little overt impact on brain development and neurobehaviors in mice,suggesting that thyroid disruption does not necessarily cause overtly adverse neurodevelopmental outcomes.

关键词： Tetrabromobisphenol A Thyroid disruption Brain development Neurobehavior Cerebellum

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