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Whole-milk consumption decreases the risk of inflammatory bowel disease:a two-sample Mendelian rand omization analysis

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Journal of Bio-X Research 2021年第3期4卷 114-119页

作者： Jiuling Li Haoxue Zhu Aowen Tian Ying Guo Xiaoxuan Zhao Miaoran Zhang Lanlan Chen Jianping Wen Jianli Yang Baiyu Qi Peng Chen Department of Pathology College of Basic Medical SciencesJilin University Department of genetics College of Basic Medical SciencesJilin University The First Hospital of Jilin University ChangchunJilin ProvinceChina

Objective: The impact of dairy fat on inflammatory bowel disease remained inconclusive. We aimed to compare the effects of whole-milk and skimmed-milk consumption on the risk of inflammatory bowel disease using a Mendelian randomization ***: We conducted a genome-wide association study of the preference for whole versus skimmed milk using data for 20,200 whole-milk consumers and 67,847 skimmed-milk consumers from the UK Biobank. The lead single nucleotide polymorphisms in the associated loci were identified at the genome-wide significance level, and were further employed as instrumental variables for whole-milk preference. We conducted a two-sample Mendelian randomization analysis with whole-milk preference as the exposure and inflammatory bowel disease as the outcome. The pleiotropic effects and heterogeneity of the instrumental variables were estimated using Mendelian randomization-Egger regression and CochranQ test, respectively. This study was conducted using the UKB resources under the application "53536" . The UK Biobank was approved by the North West Multi-center Research Ethics committee, the National Information Governance Board for Health and Social Care in England and Wales, and the Community Health Index Advisory Group in ***: The genome-wide association study identified five lead nucleotide polymorphisms associated with whole-milk preference. Mendelian randomization indicated that whole-milk preference significantly decreased the risk of inflammatory bowel disease (β=-1.735,P=0.048). Of the two subtypes, whole-milk preference was associated with a lower risk of Crohn disease (β=-2.549,P=0.032), but had no significant effect on the risk of ulcerative colitis (β=-1.002,P=0.44).Conclusion: Consumption of whole-milk fat may protect against Crohn disease, compared with skimmed milk. This conclusion was based on causal inference in a cohort study, and further validation in randomized controlled trials is warranted.

关键词： Crohn disease genome-wide association study inflammatory bowel disease Mendelian randomization milk fat

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Exclusive gene mapping of congenital microphthalmia in a Chinese family

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Chinese Science Bulletin 2006年第23期51卷 2868-2871页

作者： YIN Yanan LI Hui YU Ping ZHOU Qiang ZHAO Luhang ZHANG Ya-Ping Department of Biochemistry and Molecular Biology Medical College of Zhejiang University Hangzhou 310006 China Laboratory of Cellular and Molecular Evolution and Molecular Biology of Domestic Animals Kunming Institute of Zoology Chinese Academy of Sciences Kunming 650223 China Graduate University of the Chinese Academy of Sciences Beijing 100049 China Department of Medical genetics Medical College of Zhejiang University Hangzhou 310006 China Traditional Chinese Medical Hospital of Orthopedics and Traumatology Fuyang 311400 China

Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia, we performed genescan and linkage analysis in this family. Fourteen microsatellite markers on chromosomes 3, 11, 14 and 15 were selected as genetic markers according to the five pre-viously reported loci associated with microphthalmia (MITF, SOX2, PAX6, MCOP and NNO2). The genomic DNA of each member in the pedigree was amplified with 14 pairs of fluorescence labeled primers. Genome screening and genotyping were conducted on ABI377 DNA sequencer and linkage analysis was performed with Linkage software package. All two-point LOD scores of linkage analysis between the suggested disease genes and microsatellite markers were <-2, which indicated that none of the five genes were responsible for microphthalmia in this Chinese family. Microphthalmia in this family may be caused by mutation in a new gene which is essential in eye development.

关键词：天生小眼畸形基因映射连接分析医学技术

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Mutation Analysis of AVPR2 and AQP2 Gene in Chinese Patients with Congenital Nephrogenic Diabetes Insipidus

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Chemical Research in Chinese Universities 2008年第3期24卷 312-315页

作者： WANG Ying LI Hong-jun YU Zhen-xiang BAO Yong-li WU Yin YU Chun-lei MENG Xiang-ying LI Yu-xin Institute of genetics and Cytology Northeast Normal University Changchun 130024 P. R. China Out-patient Department China-Japan Union Hospital of Jilin University Changchun 130033 P. R. China Department of Respiratory Medicine First Hospital of Jilin University Changchun 130021 P. R. China Research Center of Agriculture and Medicine Gene Engineering of Ministry of Education Northeast Normal University Changchun 130024 P. R. China

To detect mutations of the aquaporin 2 gene（AQP2） and the arginine vasopressin V2 receptor gene（AVPR2） of Chinese congenital nephrogenic diabetes insipidus, and to establish the foundation for further studying the emergence mechanism of the disease and clinical diagnosis, all the exons and part of introns of AQP2 and AVPR2 genes were amplified with intronic primers, using genomic DNA extracted from three patients with congenital nephrogenic diabetes insipidus and two mothers as template, PCR product was ligated into a T-vector and then sequenced. The result was compared with the database sequence to identify the mutable sites via a BLAST search, the incidence of every mutation was analyzed, and the putative transcription factor binding sites that maybe disturbed were analyzed by MAPPER. Mutation g.1394A〉G in exon 3 of AVPR2 was detected in all the subjects, g.861C〉T（S167L） in exon 2 of AVPR2 and IVS1＋3G〉A in intron of AQP2 were detected, respectively, in two patients, and c.836A〉C in 3′ untranslated region of AQP2 was detected in two patients and one mother. Four mutations were identified. g.1394A〉G of AVPR2 and c.836A〉C of AQP2 have high incidence in patients with nephrogenic diabetes insipidus. Detection on the two sites may become auxiliary diagnosis index of congenital nephrogenic diabetes insipidus.

关键词： Nephrogenic diabetes insipidus Gene mutation AQP2 A VPR2

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WELCOME MESSAGE

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Cancer Biology & Medicine 2016年第2期 154-154页

作者： Xi Shan Hao Raju Kucherlapati Chinese Anti-Cancer Association National Clinical Research Center for Cancer Department of genetics Harvard Medical School

Dear Friends and Colleagues,On behalf of the Organizing committee,we are pleased to invite you to participate in the First International Conference on Cancer Precision Medicine to be held September 22;-24;,2016 in Tia...

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DAZ1/DAZ2 cluster deletion mediated by gr / gr recombination per se may not be sufficient for spermatogenesis impairment： a study of Chinese normozoospermic men

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Asian Journal of Andrology 2006年第2期8卷 183-187页

作者： Yuan Yang Cui-Ying Xiao Zhou-Cun A Si-Zhong Zhang Xiang Li Si-Xiao Zhang Department of Medical genetics West China Hospital Sichuan University Chengdu 610041 China Department of Urology West China Hospital Sichuan University Chengdu 610041 China Division of Human Morbid Genomics National Key Laboratory of Biotherapy Sichuan University Chengdu 610041 China

Aim： To explore the possible effect of the deleted in azoospermia （DAZ） copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c （AZFc） region was analyzed in 346 normozoospermic men. Methods： Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction （PCR）-restriction fragment length polymorphism and routine PCR. Results： Five （1.4%） of the normozoospermic men were found to have deletion of grlgr-DAZ1/DAZ2. None of the men were found to have b2/b4--entire DAZ deletion. Conclusion： The presence of grlgr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men. （Asian J Androl 2006 Mar; 8： 183-187）

关键词： azoospermia factor c deleted in azoospermia gene deletion normozoospermia

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人体重组白细胞介素-6的二级结构，拓扑及溶液的三维结构

人体重组白细胞介素-6的二级结构，拓扑及溶液的三维结构

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第九届全国波谱学学术会议

作者：徐光漪 Hsiang-Ai Yu Tom McDonagh Jin Hong Lewis E.Key Dale A Cumming From the Small Molecule Drug Discovery Group Genetics Institute87 Cambridge Park DriveCambridgeMA 02140 and the Dept.of Medical GeneticsBiochemistry and Chemistry

Cytokine Interleukin-6(IL-6)是由185个氨基酸组成的蛋白质.用N单标记以及N/C双标记蛋白质,通过高分辨异核多重核磁共振(2D-,3D-,4D-)实验,完成了蛋白质分子骨架及侧链H,N和C的完全指定.结合C化学位移,骨架上酰胺-NH的交换速度以及N-ed...

Cytokine Interleukin-6(IL-6)是由185个氨基酸组成的蛋白质.用N单标记以及N/C双标记蛋白质,通过高分辨异核多重核磁共振(2D-,3D-,4D-)实验,完成了蛋白质分子骨架及侧链H,N和C的完全指定.结合C化学位移,骨架上酰胺-NH的交换速度以及N-edited NOESY数据推出了蛋白质的二级结构.它们是由5个螺旋结构片段被loop连接在一起,其中4个螺旋片段组成一个4螺旋束.从远程NOE数据推断蛋白质分子整体为左手,上-上-下-下的螺旋束.

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nvolvement of collagen-binding heat shock protein 47 in scleroderma-associated fibrosis

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Protein & Cell 2015年第8期6卷 589-598页

作者： Haiyan Chu Ting Wu Wenyu Wu Wenzhen Tu Shuai Jiang Sidi Chen Yanyun Ma Qingmei Liu Xiaodong Zhoua Li Jin Jiucun Wang Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering Collaborative Innovation Center for genetics and Development School of Life Sciences and Institutes of Biomedica Sciences Fudan University Shanghai 200438 China Division of Dermatology Huashan Hospital Fudan University Shanghai 200040 China Division of Rheumatology Shanghai TCM-Integrated Hospital Shanghai 200082 China Division of Rheumatology University of Texas Health Science Center at Houston Houston TX 77030 USA Institute of Rheumatology Immunology and Allergy Fudan University Shanghai 20080 China

Uncontrolled fibrosis of skin and internal organs is the main characteristic of scleroderma, and collagen is a major extracellular matrix protein that deposits in the fibrotic organs. As the chaperone of collagen, heat shock protein 47 （HSP47） is closely related with the development of fbrosis. To explore the potential func- tion of HSP47 in the pathogenesis of scleroderma, the clinical, in vivo and in vitro studies were performed. In clinical, the increased mRNA level of HSP47 was observed in the skin fibroblasts and PBMC from scle- roderma patients, and the enhanced protein level of HSP47 was also detected in the skin biopsy and plasma of the above patients. Unexpectedly, the enhanced levels of HSP47 were positively correlated with the presence of anti-centromere antibody in scleroderma patients. Moreover, a high expression of HSP47 was found in the skin lesion of BLM-induced scleroderma mouse model. Further in vitro studies demonstrated that HSP47 knockdown could block the intracellular and extracellular collagen over-productions induced by exogenous TGF-13. Therefore, the results in this study provide direct evidence that HSP47 is involved in the pathogenesis of scleroderma. The high expression of HSP47 can be detected in the circulatory system of scleroderma patients, indicating that HSP47 maybecome a pathological marker to assess the progres- sion of scleroderma, and also explain the systemic fibrosis of scleroderma. Meanwhile, collagen over-ex- pression is blocked by HSP47 knockdown, suggesting the possibility that HSP47 can be a potential therapeutic target for scleroderma.

关键词： systemic sclerosis fibrosis collagenheat shock protein 47 anti-centromere antibody,therapeutic target

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Human equivalent dose of oral 4-aminopyridine differentiates nerve crush injury from transection injury and improves post-injury function in mice

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Neural Regeneration Research 2020年第11期15卷 2098-2107页

作者： Chia George Hsu M A Hassan Talukder Li Yue Loel CTurpin Mark Noble John C.Elfar Center for Orthopaedic Research and Translational Science Penn State Hershey College of MedicineMilton S.Hershey Medical CenterHersheyPAUSA Department of Medicine Aab Cardiovascular Research InstituteUniversity of Rochester School of Medicine and DentistryRochesterNYUSA Department of Orthopedics The Warren Alpert Medical School of Brown University/Rhode Island HospitalProvidenceRIUSA Department of Neuroscience The University of Rochester Medical CenterRochesterNYUSA Department of Biomedical genetics The University of Rochester Medical CenterRochesterNYUSA

4-Aminopyridine(4-AP), an FDA-approved drug for the symptomatic treatment of multiple sclerosis, is used to improve neuromuscular function in patients with diverse demyelinating disorders. We recently demonstrated that local, transdermal or injectable forms of 4-AP improve myelination, nerve conduction velocity, muscle atrophy, and motor function after traumatic peripheral nerve injury in mice. While oral 4-AP is most commonly used in the clinic, it is unknown whether human equivalent oral doses of 4-AP have effects on traumatic peripheral nerve injury differentiation, myelination, muscle atrophy, functional recovery, and post-injury inflammatory processes in animals. Mice with sciatic nerve crush or denervation injury received oral or intraperitoneal 4-AP(10 μg) or vehicle alone and were examined for pharmacokinetics, motor function, muscle mass, intrinsic muscle force, nerve morphological and gene expression profiles. 4-AP showed linear pharmacokinetics and the maximum plasma 4-AP concentrations were proportional to 4-AP dose. Acute single dose of oral 4-AP administration induced a rapid transient improvement in motor function that was different in traumatic peripheral nerve injury with or without nerve continuity, chronic daily oral 4-AP treatment significantly enhanced post crush injury motor function recovery and this effect was associated with improved myelination, muscle mass, and ex vivo muscle force. Polymerase chain reaction array analysis with crushed nerve revealed significant alterations in gene involved in axonal inflammation and regeneration. These findings provide convincing evidence that regardless of the route of administration, 4-AP can acutely differentiate traumatic peripheral nerve injury with or without nerve continuity and can enhance in vivo functional recovery with better preservation of myelin sheaths, muscle mass, and muscle force. The animal experiments were approved by the University committee on Animal Research(UCAR) at the University

关键词： 4-aminopyridine electron microscopy of nerves functional recovery gene expression muscle force muscle mass oral administration pharmacokinetics sciatic nerve crush injury sciatic nerve denervation injury

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Systemic epigallocatechin gallate protects against retinal degeneration and hepatic oxidative stress in the P23H-1 rat

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Neural Regeneration Research 2022年第3期17卷 625-631页

作者： Lorena Perdices Lorena Fuentes-Broto Francisco Segura Ana Cavero Elvira Orduna-Hospital Gema Insa-Sánchez Ana Isabel Sánchez-Cano Laura Fernández-Sánchez Nicolás Cuenca Isabel Pinilla Aragón Institute for Health Research(IIS Aragón) ZaragozaSpain Pharmacology Physiology&Legal and Forensic MedicineUniversity of ZaragozaZaragozaSpain Department of Applied Physics University of ZaragozaZaragozaSpain Health Sciences Faculty San Jorge UniversityVillanueva de GállegoSpain Department of Ophthalmology Miguel Servet University HospitalZaragozaSpain Department of Physiology Genetics and MicrobiologyUniversity of AlicanteAlicanteSpain Department of Surgery Gynecology and ObstetricsUniversity of ZaragozaZaragozaSpain/Department of OphthalmologyLozano Blesa University HospitalZaragozaSpain

Retinitis pigmentosa(RP) is a group of inherited retinal disorders that lead to photoreceptor *** has been reported to be related to oxidative stress,autophagy,and inflammation.(-)-Epigallocatechin gallate(EGCG),the most abundant catechin-based flavonoid in green tea leaves,has significant antioxidant,anti-carcinogenic,antimicrobial,and neuroprotective ***,given its low molecular weight and hydrophilic properties,can cross the blood-retinal barrier and is able to reach different ocular tissues such as the lens,cornea,and *** has been shown to provide retinal protection against ischemia;sodium nitroprusside-,N-methyl-D-aspartate-,lipopolysaccharide-,light-,sodium iodate-,or H2 O2-induced damage and diabetic *** suggests that systemic EGCG administration has the potential to protect against retinal degenerative or neurodegenerative diseases such as *** aim of this work was to investigate whether EGCG can protect against RP progression in the animal P23 H line 1,the model of *** P23 H rats were crossed with pigmented Long Evans rats to produce offspring exhibiting the clinical features of *** P23 H rats were treated via intraperitoneal injection with saline or EGCG at a dose of 25 mg/kg every week from P100 to P160 and then compared to wild-type Long Evans *** treated with EGCG showed better visual and retinal electrical function with increased contrast sensitivity and b-wave values compared with those observed in P23 H rats treated with *** reduced lipid peroxidation and increased total antioxidant capacity and catalase and superoxide dismutase *** differences were observed in visual acuity,nitrate levels,nitrite levels or glutathione S-transferase *** conclusion,EGCG not only reduced the loss of visual function in P23 H rats but also improved the levels of antioxidant enzymes and reduced oxidative *** study was approved by the Institutional Animal Care and Use committee(CE

关键词： antioxidants contrast sensitivity electroretinogram green tea neurodegeneration oxidative stress retinal degeneration retinitis pigmentosa systemic visual acuity

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Reprogramming of phytopathogen transcriptome by a non-bactericidal pesticide residue alleviates its virulence in rice

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Fundamental Research 2022年第2期2卷 198-207页

作者： Haruna Matsumoto Yuan Qian Xiaoyan Fan Sunlu Chen Yanxia Nie Kun Qiao Dandan Xiang Xinzhong Zhang Meng Li Bo Guo Peilin Shen Qiangwei Wang Yunlong Yu Tomislav Cemava Mengcen Wang State Key Laboratory of Rice Biology&Ministry of Agricultural and Rural Affairs Laboratory of Molecular Biology of Crop Pathogens and Insects Institute of Pesticide and Environmental ToxicologyZhejiang UniversityHangzhou 310058China Key Laboratory of Biology of Crop Pathogens and Insects of Zhejiang Province College of Agriculture and BiotechnologyZhejiang UniversityHangzhou 310058China Institute of Environmental Biotechnology Graz University of TechnologyPetersgasse 128010 GrazAustria Global Education Program for AgriScience Frontiers Graduate School of AgricultureHokkaido UniversitySapporo 0608589Japan State Key Laboratory of Crop genetics and Germplasm Enhancement Nanjing Agricultural UniversityNanjing 210095China Ecology and Environmental Sciences Center South China Botanical GardenChinese Academy of SciencesGuangzhou 510650China Key laboratory of South Subtropical Fruit Biology and Genetic Resource Uilization(MOA) Instiute of Fruit Tree ResearchGuangdong Acadermy of Agricultural SciencesGuangzhou 510640China Tea Research Instiute Chinese Academy of Agriculural SciencesHangzhou 310008China Shanghai Intermnational Studies University Shanghai 200083China Xiaoshan Agricultural Comprehensive Development Zone&Management committee Hangzhou 311200China

Bacteria equipped with virulence systems based on highly bioactive small molecules can circumvent their host's defense *** employing this strategy are currently threatening global rice *** the present study,variations in the virulence of the highly destructive Barkholderiaplantarii were observed in different rice-producing *** environment-linked variation was not attributable to any known host-related or external ***-occurrence analyses indicated a connection between reduced virulence and 5-Amino-l,3,4-thiadiazole-2-thiol(ATT),a non-bactericidal organic ***,which accumulates in rice plants during metabolization of specific agrochemicals,was found to reduce virulence factor secretion by *** up to 88.8%and inhibit pathogen virulence by hijacking an upstream signaling *** assessment of the newly discovered virulence inhibitor resulted in mechanistic insights into positive effects of ATT accumulation in plant *** of virulence alleviation were deciphered by integrating high-throughput data,gene knockout mutants,and molecular interaction ***,a histidine protein kinase in a two-component system that regulates virulence factor secretion,is likely the molecular target antagonized by *** findings provide novel insights into virulence modulation in an important plant-pathogen system that relies on the host's metabolic activity and subsequent signaling interference.

关键词： Phytopathogen Virulence factor Transcriptome reprogramming Agrochemical Pesticide Rice

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