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基于GWAS与转录组分析筛选黄鳍棘鲷生长相关SNP及候选基因
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作者 刘波 白璐鑫 +2 位作者 卢友军 吴兵 刘贤德 《海洋与湖沼》 北大核心 2026年第1期199-211,共13页
黄鳍棘鲷是我国东南沿海重要的海水养殖鱼类之一。为探究黄鳍棘鲷生长差异的遗传基础,对344尾黄鳍棘鲷进行全基因组关联分析(GWAS),共鉴定出113个与生长显著相关的SNP位点,对这些位点上下游50 kb范围的基因进行功能注释,共筛选出33个与... 黄鳍棘鲷是我国东南沿海重要的海水养殖鱼类之一。为探究黄鳍棘鲷生长差异的遗传基础,对344尾黄鳍棘鲷进行全基因组关联分析(GWAS),共鉴定出113个与生长显著相关的SNP位点,对这些位点上下游50 kb范围的基因进行功能注释,共筛选出33个与黄鳍棘鲷生长性状相关基因。为进一步探究生长差异的分子机制,从344尾黄鳍棘鲷中挑选体质量最大的9尾作为生长快速个体,体质量最小的9尾作为生长缓慢个体,对18尾生长差异极端个体进行转录组分析,以|log2Fold Change|≥2为筛选标准,共得到差异表达基因461个,功能分析鉴定到9个信号通路和32个基因与生长相关。通过比较全基因组关联分析和转录组分析结果,筛选到4个与生长均显著相关的基因,分别为asb15a、LOC119025107、socs3a和mylz3。研究结果为解析黄鳍棘鲷生长差异的遗传基础提供了重要数据,并为后续黄鳍棘鲷速生品系的培育提供参考。 展开更多
关键词 黄鳍棘鲷(Acanthopagrus latus) 生长性状 gwas 转录组 候选基因
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玉米雄穗相关性状的GWAS分析及候选基因预测
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作者 柳赫轩 李春翔 +6 位作者 周于阳 王佳浩 张慧兰 周羽 张林 王振华 邸宏 《玉米科学》 北大核心 2026年第1期17-23,共7页
以214份玉米自交系构成的自然群体为试验材料,调查雄穗分枝数、一级侧枝数目、主轴长、最高位侧枝以上主轴长度、最低位侧枝以上主轴长度、分枝与主轴角度等雄穗相关性状,结合41101个SNPs基因型数据进行全基因组关联分析(GWAS)。结果表... 以214份玉米自交系构成的自然群体为试验材料,调查雄穗分枝数、一级侧枝数目、主轴长、最高位侧枝以上主轴长度、最低位侧枝以上主轴长度、分枝与主轴角度等雄穗相关性状,结合41101个SNPs基因型数据进行全基因组关联分析(GWAS)。结果表明,参试材料在6个性状间差异显著,表现出数量性状特点,性状间显著相关(P<0.05)。检测出与雄穗分枝数、主轴长、最高位侧枝以上主轴长度、最低位侧枝以上主轴长度性状显著相关的15个SNP位点,预测到13个候选基因,其中10个基因有功能注释。筛选出3个重要的候选基因,包括Zm00001d019875、Zm00001d023945和Zm00001d023950,可能通过信号转导、蛋白质的折叠与降解、氨基酸代谢、糖生物合成与代谢、脂质代谢等途径影响玉米雄穗结构。 展开更多
关键词 玉米 雄穗相关性状 全基因组关联分析 候选基因预测
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Genome-wide association study(GWAS)identifies genetic loci and candidate genes for variation in protein and oil content in Sesamum indicum L.
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作者 Habtamu Kefale Rong Zhou +6 位作者 Muez Berhe Ahmed A.Abbas Chris O.Ojiewo Huan Li Ting Zhou Jun You Linhai Wang 《Oil Crop Science》 2025年第4期337-347,共11页
Sesame(Sesamum indicum L.)is an ancient diploid oilseed crop valued for its high oil content,quality protein,unsaturated fatty acids,and antioxidants.The emerging research focuses on the utilization of vegetable prote... Sesame(Sesamum indicum L.)is an ancient diploid oilseed crop valued for its high oil content,quality protein,unsaturated fatty acids,and antioxidants.The emerging research focuses on the utilization of vegetable proteins in the development of novel products and the formulation of functional foods.Developing sesame genotypes with higher protein and oil content is a current focus for improving sesame quality traits,as preferred by the sesame seed oil industry and consumers.Despite previous genome-wide association studies(GWAS)on various agronomic and biochemical traits in sesame,the genetic basis of protein content and oil content remains limited.Therefore,this study was designed to identify candidate genes and quantitative trait loci(QTLs)regulating the target traits using 401 sesame accessions grown in three environments(2018WH,2018LQ,and 2022WH).The protein and oil content in the sesame population varied significantly.The protein content ranged from 15.06%to 26.45%,while the oil content was between 41.68%and 60.15%.Furthermore,the white seeds had a higher oil content,while the black seeds had a higher protein content,indicating an association between seed colour and oil and protein content.GWAS results revealed that 632 and 269 QTLs were selected as significant genetic regions for protein and oil content,respectively.Of these significant QTLs,we identified 10 and 22 stable QTLs for protein and oil content,respectively.A total of 17 candidate genes related to protein and oil content were identified within 32 stable quantitative trait loci(QTLs).Interestingly,two variant sites,SNP13:10093594 and In Del13:10935497,related to protein content,were identified in the gene sequences of SINPZ1300586 and SINPZ1300694.Four SNPs,SNP1:22608987,SNP4:13355820,SNP8:21686488,and SNP11:142842,for oil content were found correspond to the genes SINPZ0102106,SINPZ0401222,SINPZ0801731,and SINPZ1100015,respectively.The findings provide light on the genetic basis of protein and oil characteristics.These genes and QTLs can aid the molecular breeding and genetic engineering of innovative sesame germplasm,with improved potential for protein and oil content,as well as desired quality attributes. 展开更多
关键词 SESAME Quality traits Oil content Protein content gwas QTLS
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How does mindfulness influence study engagement?The role of affect and psychological capital pathways in university students
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作者 Xiang Deng Zaida Nor binti Zainudin +1 位作者 Xiaoling Wang Wan Norhayati Wan Othman 《Journal of Psychology in Africa》 2026年第1期9-20,共12页
Mindfulness would enhance university students’emotional well-being and study engagement.However,the role of affect(positive and negative emotions)and psychological resources(psychological capital)linking mindfulness ... Mindfulness would enhance university students’emotional well-being and study engagement.However,the role of affect(positive and negative emotions)and psychological resources(psychological capital)linking mindfulness to study engagement remain underexplored.This cross-sectional study surveyed 688 Chinese university students(females=413,mean age=20.3,SD=0.83),using validated self-report measures of mindfulness,positive and negative emotions,psychological capital,and study engagement.Structural equation modeling and bias-corrected bootstrap analyses(5000 resamples)revealed that mindfulness directly enhanced positive emotions,psychological capital,and study engagement,while reducing negative emotions.Positive emotions partially mediated the positive effect of mindfulness on psychological capital and study engagement.Negative emotions partially and negatively mediated only the mindfulness-psychological capital link.Psychological capital independently mediated the mindfulness-engagement relationship,and two sequential mediation pathways emerged:(a)mindfulness→positive emotions→psychological capital→higher study engagement and(b)mindfulness→reduced negative emotions→psychological capital→higher study engagement.Consistent with broaden-and-build(B&B)theory and Conservation of Resources(COR)theory,these findings suggest that mindfulness fosters study engagement primarily by promoting positive emotional experiences and strengthening psychological capital.By implication,university student support programs should employ mindfulness-based interventions to cultivate emotional and psychological resources for higher students’engagement and overall well-being. 展开更多
关键词 MINDFULNESS positive emotions negative emotions psychological capital study engagement
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Ethical awareness and issues in gastrointestinal endoscopy practice:A survey study
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作者 Yi Qin Ming-Yang Shi 《World Journal of Gastroenterology》 2026年第1期151-157,共7页
BACKGROUND Gastrointestinal endoscopy technology has significantly improved the diagnostic accuracy and the successful treatment of gastrointestinal diseases.However,a series of ethical issues have emerged,such as exp... BACKGROUND Gastrointestinal endoscopy technology has significantly improved the diagnostic accuracy and the successful treatment of gastrointestinal diseases.However,a series of ethical issues have emerged,such as expanding treatment indications,which affect the fair distribution of medical resources.There is limited research on ethical issues in the field of digestive endoscopy.AIM To investigate the level of ethical awareness among gastrointestinal endoscopy practitioners and analyze the ethical issues involved in gastrointestinal endoscopy technology.METHODS A questionnaire survey was performed to collect relevant data(gender,age,degree of education,professional title,personnel category,the level of understanding medical ethical principles,ethics training and its learning pathways)from gastrointestinal endoscopy practitioners at the Second Hospital of Dalian Medical University and Dalian Friendship Hospital,including licensed physicians and nurses(including trainees and graduate students).RESULTS The majority of gastrointestinal endoscopy practitioners have received training on ethics,but there is still considerable room for improvement in their ethical awareness.Different learning pathways may affect the mastery of ethical principles, and understanding of ethical principles is more easily achieved through hospital ethics institutions.CONCLUSIONTo address the ethical issues in gastrointestinal endoscopy technology, it is necessary to enhance the humanisticeducation of gastrointestinal endoscopy practitioners, incorporate ethical standards into the technology assessmentprocess, and establish a patient-centered diagnostic and treatment model to improve the ethical awareness of practitionersand achieve a balance between technology and ethics. 展开更多
关键词 Gastrointestinal endoscopy Ethical awareness Ethical issues Medical ethics Survey study
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Genomic insights of leafminer resistance in spinach through GWAS approach and genomic prediction
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作者 Ibtisam Alatawi Haizheng Xiong +6 位作者 Beiquan Mou Kenani Chiwina Waltram Ravelombola Qun Luo Yiting Xiao Yang Tian Ainong Shi 《Horticultural Plant Journal》 2026年第2期356-368,共13页
The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleot... The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleotide polymorphism(SNP)markers associated with leafminer resistance through a genome-wide association study(GWAS)and to evaluate the prediction accuracy(PA)for selecting resistant spinach using genomic prediction(GP).Using a dataset of 84301 SNPs obtained from whole-genome resequencing,seven GWAS models,including BLINK,FarmCPU,MLM,and MLMM in GAPIT 3,as well as MLM,GLM,and SMR in TASSEL 5,were employed to perform GWAS on a panel of 286 USDA spinach germplasm accessions.Three SNP markers,namely 1_115279256_C_T,3_157082529_C_T,and 4_168510908_T_G on chromosomes 1,3,and 4,respectively,were identified as associated with leafminer resistance.In the 30 kb flanking regions of these markers,four candidate genes(SOV1g031330,SOV1g031340,SOV4g047270,and SOV4g047280),encoding LOB domain-containing protein,KH domain-containing protein,were discovered.Nodulin-like domain-containing protein,and SAM domain-containing protein,were discovered.The PA for leafminer resistance selection was estimated using ten different SNP sets,including two GWAS-derived marker sets(three and 51 SNPs)and eight random marker sets(ranging from 51 to 10 K SNPs)analyzed by seven GP models.The findings emphasized the superior performance of GWAS-derived SNP sets,reaching a PA of up to 0.79 using the cBLUP model.Notably,this research marks the pioneering application of GP in the context of insect resistance,providing a significant advancement in the understanding and management of leafminer resistance in spinach cultivation. 展开更多
关键词 Spinach germplasm Genome-wide association study Pest resistance Genomic prediction
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Causal relationships between 41 inflammatory cytokines and myopia:a Mendelian randomization study
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作者 Xiao-Fei Wu Lei Yu +3 位作者 Ying Zhang Shuang Li Rui Li Lian-Yi Sun 《International Journal of Ophthalmology(English edition)》 2026年第3期575-581,共7页
AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)da... AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)datasets were utilized for this two-sample MR analysis.Inflammatory cytokine-related GWAS data were extracted from The University of Bristol’s Research Data Repository,and myopia-related GWAS data were obtained from the FinnGen project.Single nucleotide polymorphisms(SNPs)associated with inflammatory cytokines were systematically selected as instrumental variables(IVs)based on three rigorous criteria:relevance,independence,and exclusion of pleiotropy.Five MR methods were employed for causal inference:the inverse-variance weighted(IVW)method as the primary analysis,supplemented by MREgger regression,weighted median estimator,simple mode,and weighted mode approaches.Sensitivity analyses were performed to evaluate the robustness of the causal estimates.RESULTS:A total of 773 myopia-associated SNPs were identified.MR analysis revealed that higher levels of macrophage inflammatory protein 1-α(MIP-1α)were associated with a 17%reduced risk of myopia[odds ratio(OR)=0.83;95%confidence interval(CI):0.69-0.99;P<0.05].In contrast,elevated levels of eotaxin(OR=1.26;95%CI:1.07-1.47;P<0.01),stromal cell-derived factor-1α(SDF-1α;OR=1.68;95%CI:1.08-2.62;P<0.05),and interleukin-2 receptor subunit alpha(IL-2Rα;OR=1.25;95%CI:1.01-1.53;P<0.05)were significantly associated with an increased risk of myopia.Sensitivity analyses confirmed the reliability of these results.CONCLUSION:This study provides evidence supporting a causal relationship between specific inflammatory cytokines and myopia.MIP-1αmay act as a protective factor against myopia,while eotaxin,SDF-1α,and IL-2Rαare potential risk factors for myopia.These findings emphasize the critical role of inflammatory pathways in the pathogenesis of myopia,offering novel insights for the development of preventive and therapeutic strategies for myopia. 展开更多
关键词 MYOPIA inflammatory cytokines Mendelian randomization causal association single nucleotide polymorphism genome-wide association study
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Profiling vaccine attitudes and subsequent uptake in 1·1 million people in England:a nationwide cohort study
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作者 Matthew Whitaker 《四川生理科学杂志》 2026年第1期216-216,共1页
Background:Despite highly effective vaccines against SARS-CoV-2,COVID-19 vaccine hesitancy persisted in some populations in England during the pandemic,with rates and motivations for hesitancy varying by demographic g... Background:Despite highly effective vaccines against SARS-CoV-2,COVID-19 vaccine hesitancy persisted in some populations in England during the pandemic,with rates and motivations for hesitancy varying by demographic group.Addressing the drivers of vaccine hesitancy through targeted interventions in hesitant groups is a public health priority for better and more rapid control of disease spread.We aimed to characterise the determinants and subtypes of vaccine hesitancy and identify more persistent forms of hesitancy via analysis of vaccine uptake in a large cross-sectional cohort with linked National Health Service(NHS)data. 展开更多
关键词 vaccine hesitancy demographic group targeted interventions vaccine uptake vaccine attitudes SARS CoV public health priority nationwide cohort study
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Early GLP-1 Agonist Use and Cancer Risk in Type 2 Diabetes:A Real-World Data Cohort Study
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作者 Cheng-Hsun Chuang Ping-Kun Tsai +2 位作者 Shih-Wen Kao Yu-Hsun Wang Chao-Bin Yeh 《Oncology Research》 2026年第1期237-253,共17页
Background:To determine whether initiating a glucagon-like peptide-1 receptor agonist(GLP-1 RA)within 3 months of type 2 diabetes(T2DM)diagnosis alters the subsequent risk of overall and site-specific cancer and wheth... Background:To determine whether initiating a glucagon-like peptide-1 receptor agonist(GLP-1 RA)within 3 months of type 2 diabetes(T2DM)diagnosis alters the subsequent risk of overall and site-specific cancer and whether this association differs by baseline body-mass index(BMI).Methods:This retrospective cohort study used electronic health records from the TriNetX U.S.research network.Adults aged 20 years or older diagnosed with T2DM between 2016 and 2024 were included if they received any hypoglycemic agents within 3 months before and after diagnosis.Following 1:1 propensity score matching,both the GLP-1 RA user and non-user groups included 183,264 patients.The study outcome was defined as a diagnosis of malignant neoplasms.Hazard ratios(HRs)for overall and site-specific cancer risk were estimated using Cox proportional hazards models.Kaplan–Meier analysis and stratified analysis by BMI were performed.Results:Early GLP-1 RA use demonstrated a modest but significant association with reduced overall cancer risk(HR 0.93;95%CI:0.90–0.96).Reduced risks were noted for cancers of the digestive(HR 0.81),respiratory(HR 0.66),and female genital(HR 0.87)systems.In stratified analysis,benefits were more pronounced in patients with BMI≥30,particularly for pancreatic and colorectal cancers.Conclusion:Early initiation of GLP-1 receptor agonists in patients with diagnosed T2DM was associated with a modest reduction in overall cancer risk,particularly among individuals with obesity.These findings highlight the dual metabolic and oncologic value of prompt GLP-1 RA therapy. 展开更多
关键词 Glucagon-like peptide-1(GLP-1)receptor agonists type 2 diabetes mellitus cancer risk OBESITY cohort study
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肠道菌群与肌萎缩侧索硬化症的因果关系:IEU Open GWAS数据库的样本分析
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作者 汪涛 闵友江 +5 位作者 王敏 王顺谱 李乐 张宸 肖伟平 余艺萍 《中国组织工程研究》 北大核心 2026年第12期3182-3189,共8页
背景:近期研究表明,肠道菌群可能会影响肌萎缩侧索硬化症的发展进程,然而两者之间的因果关系尚不清楚。目的:利用孟德尔随机化方法探索肠道菌群与肌萎缩侧索硬化症之间的因果关系。方法:从IEU Open GWAS数据库(由英国布里斯托尔大学的... 背景:近期研究表明,肠道菌群可能会影响肌萎缩侧索硬化症的发展进程,然而两者之间的因果关系尚不清楚。目的:利用孟德尔随机化方法探索肠道菌群与肌萎缩侧索硬化症之间的因果关系。方法:从IEU Open GWAS数据库(由英国布里斯托尔大学的英国医学研究委员会和遗传流行病学研究所开发,旨在提供与多种疾病相关的全基因组关联研究数据,为开放数据库)中分别获取肠道菌群和肌萎缩侧索硬化症的GWAS数据,以肠道菌群为暴露因素、肌萎缩侧索硬化症为结局变量,使用逆方差加权法、MR-Egger回归法、加权中位数法、加权模型法和简单模型法来探究两者之间的因果关系。使用敏感性分析检验孟德尔随机化结果的可靠性,使用反向孟德尔随机化分析进一步验证两者间的因果关系。结果与结论:(1)正向孟德尔随机化分析结果表明,6种肠道菌群与肌萎缩侧索硬化症之间存在因果关系,其中嗜胆菌属(β=0.206,OR=1.229)、毛螺菌属(β=0.288,OR=1.333)、马文-布莱恩特氏菌属(β=0.196,OR=1.216)、瘤胃球菌UCG010属(β=0.254,OR=1.289)和泰泽氏菌属3型(β=0.128,OR=1.136)可能是肌萎缩侧索硬化症的潜在危险因素,肠杆菌属(β=-0.203,OR=0.816)可能是肌萎缩侧索硬化症的保护因素;(2)在敏感性分析中,未发现显著的异质性和水平多效性(P均> 0.05),反向孟德尔随机化分析亦未揭示肠道菌群与肌萎缩侧索硬化症之间存在反向因果关系;(3)该研究结果不仅为肌萎缩侧索硬化症治疗提供了潜在的生物标志物,还为开发基于肠道菌群的新的干预治疗方案提供了理论依据,对中国基础医学研究具有一定的启示意义。 展开更多
关键词 肠道菌群 肌萎缩侧索硬化症 孟德尔随机化 因果关系 逆方差加权法 全基因组关联研究数据
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循环炎症蛋白与心肌肥厚:来自GWAS Catalog与芬兰数据库欧洲群体的大样本分析
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作者 丁宇 陈婧雯 +4 位作者 陈秀燕 施慧敏 杨雨蝶 周美启 崔帅 《中国组织工程研究》 北大核心 2026年第4期1047-1057,共11页
背景:心肌肥厚常会导致严重的心血管疾病,由于早期难以被发现,因此很难确诊。循环炎症蛋白被发现与心血管疾病有相当大的关联,但其与心肌肥厚关系的具体机制依然不明确。目的:采用多种孟德尔随机化的方法探究循环炎症蛋白和心肌肥厚间... 背景:心肌肥厚常会导致严重的心血管疾病,由于早期难以被发现,因此很难确诊。循环炎症蛋白被发现与心血管疾病有相当大的关联,但其与心肌肥厚关系的具体机制依然不明确。目的:采用多种孟德尔随机化的方法探究循环炎症蛋白和心肌肥厚间的关系。方法:采用GWAS Catalog数据库中的91个循环炎症蛋白数据库和最新版R11芬兰数据库中的心肌肥厚数据,利用双向两样本孟德尔随机化、多变量孟德尔随机化和全基因组关联研究共定位分析的方式探寻循环炎症蛋白和心肌肥厚的因果关系。用MR-PRESSO方法、Cochran’sQ检验、MR-Egger截距评估、留一法分析和漏斗图分析等敏感性检验的方式验证结果的准确性。结果与结论:(1)在双向两样本孟德尔随机化结果中主要用逆方差加权法(Inverse Variance Weighting,IVW)进行评估,发现T细胞表面糖蛋白CD6异构体水平(IVW:P=0.046,OR=0.74,95%CI:0.66-1.00),裂隙趋化因子水平(IVW:P=2.1×10^(-2),OR=0.74,95%CI:0.556-0.95),Delta和Notch样表皮生长因子相关受体水平(IVW:P=3.7×10^(-4),OR=0.66,95%CI:0.49-0.87),白细胞介素2水平(IVW:P=3.8×10^(-3),OR=0.667,95%CI:0.50-0.88),硫酸转移酶1A1(IVW:P=1.42×10^(-2),OR=0.80,95%CI:0.67-0.96)对心肌肥厚具有单向因果作用。(2)在多变量孟德尔随机化中发现,T细胞表面糖蛋白CD6异构体水平(IVW:P=1.39×10^(-2),OR=0.81,95%CI:0.69-0.96)和Delta和Notch样表皮生长因子相关受体水平(IVW:P=3.7×10^(-2),OR=0.73,95%CI:0.55-0.98)的结果为阳性,说明排除了其他和心肌肥厚具有影响的循环炎症蛋白影响后其结果依然显著。(3)在共定位中发现,T细胞表面糖蛋白CD6异构体水平H3+H4=0.96,其中最显著的单核苷酸多态性为rs59570070,说明T细胞表面糖蛋白CD6异构体水平和心肌肥厚存在内在联系。(4)敏感性结果无异常,说明无异质性和多效性影响结果。(5)结果证实,T细胞表面糖蛋白CD6异构体、裂隙趋化因子、Delta和Notch样表皮生长因子相关受体、白细胞介素2、硫酸转移酶1A1对心肌肥厚具有单向因果作用。T细胞表面糖蛋白CD6异构体和Delta和Notch样表皮生长因子相关受体影响最深,T细胞表面糖蛋白CD6异构体和心肌肥厚之间可能存在相关通路。由于孟德尔随机化研究需要大量的临床数据,因此常采用国际数据库中的欧洲样本分析,由于该分析方法在因果推断、精准医学及跨人群验证等方面具有重要优势,因此其研究结果对中国医学发展仍有重要意义。随着孟德尔随机化研究的深入,在一定意义上也推动了中国临床数据的收集和分析。未来可深入解析关键蛋白机制,结合多组学和临床验证,开发炎症标志物监测体系及新型抗炎疗法,从而推动心血管疾病的防控和个性化医疗发展。 展开更多
关键词 心肌肥厚 循环炎症蛋白 心血管疾病 孟德尔随机化 因果关系 观察性研究 共定位 多变量孟德尔随机化
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玉米穗部叶片相关性状的GWAS分析 被引量:1
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作者 李昊 刘瑞来 +3 位作者 许家伟 张振弘 李春翔 张林 《玉米科学》 北大核心 2025年第3期26-32,共7页
以294份自交系构成的玉米自然群体为试材,调查穗部3片叶片的叶长、叶宽和叶面积等表型性状,结合5 850 982个SNPs标记的基因型数据进行全基因组关联分析(GWAS)。结果表明,参试材料的穗部叶片性状存在显著差异,表现出典型的数量性状特点,... 以294份自交系构成的玉米自然群体为试材,调查穗部3片叶片的叶长、叶宽和叶面积等表型性状,结合5 850 982个SNPs标记的基因型数据进行全基因组关联分析(GWAS)。结果表明,参试材料的穗部叶片性状存在显著差异,表现出典型的数量性状特点,性状间表现为显著相关(P<0.05)。检测出极显著相关的SNP位点439个(P<1E-05),基于12个与多个性状均显著相关的SNP位点预测到29个候选基因,其中18个具有功能注释,筛选出5个重要的候选基因,包括MYB家族转录因子、NAC家族转录因子、GLK家族转录因子、E3泛素蛋白连接酶、钙调蛋白结合核蛋白等,可能通过相关信号转导、物质代谢合成及调控相关蛋白质稳定性来调节玉米穗部叶片性状。 展开更多
关键词 玉米 穗部叶片 关联分析 候选基因
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基于高能碳离子辐射的野生大豆突变群体百粒重GWAS分析
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作者 刘秀林 赵克臻 +7 位作者 王雪扬 张丰屹 袁荣强 张春蕾 任洪雷 苗丽丽 王家军 张必弦 《种子》 北大核心 2025年第7期1-10,48,共11页
籽粒百粒重是大豆产量构成三要素之一,百粒重大小决定大豆产量并影响其商品性,百粒重也是大豆遗传改良关键性状。为进一步挖掘籽粒大小相关基因,解析籽粒大小的调控机制。利用碳离子束(Carbon Ion Beam,CIB)辐射野生大豆(ZYD7068),构建... 籽粒百粒重是大豆产量构成三要素之一,百粒重大小决定大豆产量并影响其商品性,百粒重也是大豆遗传改良关键性状。为进一步挖掘籽粒大小相关基因,解析籽粒大小的调控机制。利用碳离子束(Carbon Ion Beam,CIB)辐射野生大豆(ZYD7068),构建了200份百粒重变异丰富的野生大豆突变群体。结果表明,群体籽粒百粒重在4.37~16.74 g之间,平均值为7.13 g,突变群体百粒重较野生大豆百粒重提高了4.98倍。对200个突变体采用全基因组测序,共获得184.1亿bp的测序数据,基因组覆盖率68.10%~70.96%。突变主要是单碱基突变(SNP),其中C到T突变占突变总数的40%。对候选SNP基因进行富集分析,突变基因主要富集在Go:0009626(植物超敏反应)、Go:0034050(共生体诱导宿主程序性细胞死亡)、Go:0012501(程序性细胞死亡)、Go:0043680(丝状器)以及Go:0045087(先天免疫反应)等途径。利用全基因组测序获得的SNPs标记,采用MLM模型,对突变群体籽粒百粒重进行全基因组关联分析(Genome-Wide Association GWAS),共检测到71个关联SNPs(-lgP>11),分别位于大豆2、3、5、6、9、10、14、16、18号染色体上,其中5、10号染色体和14号染色体以及18号染色体分别检测到9、21、9、23个SNPs,71个关联SNPs位点涉及33个基因。 展开更多
关键词 大豆 百粒重 gwas
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联合GWAS和转录组分析挖掘与白斑狗鱼耐高温性状关联的SNP
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作者 海萨·艾也力汗 焦飞 +2 位作者 刘鸿 呼德拉提·阿那斯 沈玉帮 《生物技术进展》 2025年第3期432-445,共14页
研究旨在提升白斑狗鱼对极端高温的适应能力和满足向南部温暖地区养殖发展的需求,进一步发掘与其耐高温性状显著关联的基因位点和候选基因。首先基于前期对热敏感与耐高温群体的简化基因组测序数据,利用混合线性模型(mixed-linear model... 研究旨在提升白斑狗鱼对极端高温的适应能力和满足向南部温暖地区养殖发展的需求,进一步发掘与其耐高温性状显著关联的基因位点和候选基因。首先基于前期对热敏感与耐高温群体的简化基因组测序数据,利用混合线性模型(mixed-linear model,MLM)进行全基因组关联分析(genome-wide association study,GWAS)筛选出与耐高温性状显著关联的单核苷酸多态性(single nucleotide polymorphism,SNP)位点;继而采用转录组测序技术对4组不同热处理幼鱼的脑组织进行基因差异表达分析;随后联合GWAS和转录组分析筛选出候选基因和SNP位点;最后利用Sanger测序技术,以耐高温组和参考组为材料,对显著关联的SNP位点加以验证。结果显示,GWAS分析获得了471个与耐高温性状显著关联的SNP位点。GO和KEGG分析显示,DEGs显著富集于内质网应激和免疫系统相关通路。GSEA分析显示,热胁迫84 h后先天免疫反应被激活,并且与NAD(+)ADP-核糖基转移酶活性相关的基因被诱导。先天免疫反应启动和调控相关基因的PPI分析显示,parp14、parp9、stat1和stat3是核心基因,同时也是互作基因。热应激反应中parp14可能通过调控stat1、stat3等下游效应基因来发挥保护细胞的作用。GWAS获得的SNP位点中,有2个SNP位点位于parp14基因的第三外显子。验证结果显示,parp14基因第三外显子中的2个SNP位点与耐高温性状显著相关,且为完全连锁不平衡,其中位点rsc.646T>C为错义突变,位点rsc.777G>A为同义突变。研究筛选出与白斑狗鱼耐高温相关的候选基因及与耐高温性状显著关联的2个SNP位点,可为白斑狗鱼耐高温性状的遗传机制和分子标记辅助育种提供理论依据。 展开更多
关键词 白斑狗鱼 耐高温性状 gwas 转录组 parp14 SNP
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结合GWAS和WGCNA挖掘油菜种子次生休眠候选基因
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作者 刘福霞 刘磊 +10 位作者 白姝雯 古炫炫 吴桂琴 王旭 于文庚 李伟强 谷玉娟 孙慧 丁福全 吴德鹏 赵祥祥 《中国油料作物学报》 北大核心 2025年第3期601-615,共15页
次生休眠特性是油菜地下种子库长期存在以及自生苗繁衍的重要原因,直接影响油菜的生产安全。为定位油菜种子次生休眠的遗传位点,以106份甘蓝型油菜种质资源作为研究群体,采用油菜90 K芯片对自然群体进行基因分型,共获得29968个高质量的... 次生休眠特性是油菜地下种子库长期存在以及自生苗繁衍的重要原因,直接影响油菜的生产安全。为定位油菜种子次生休眠的遗传位点,以106份甘蓝型油菜种质资源作为研究群体,采用油菜90 K芯片对自然群体进行基因分型,共获得29968个高质量的单核苷酸多态性(SNP)标记,对3年次生休眠表型进行全基因组关联分析,最终共定位到24个与油菜次生休眠显著相关的位点。同时,基于次生休眠特性差异显著的两份材料的转录组数据,进行了加权基因共表达网络分析。结合全基因组关联分析和加权基因共表达网络分析两种策略,共鉴定到52个油菜种子次生休眠候选基因,为加速甘蓝型油菜种子次生休眠的遗传改良提供了资源。 展开更多
关键词 甘蓝型油菜 次生休眠 自然群体 全基因组关联分析 加权基因共表达网络分析
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基于GWAS和BSA-seq挖掘辣椒果实中辣椒红色素含量的QTL区间及候选基因 被引量:1
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作者 班国梁 曹亚从 +8 位作者 张正海 于海龙 吴华茂 李戎轩 赵红 张伟丽 聂智星 宋红霞 王立浩 《中国蔬菜》 北大核心 2025年第1期37-45,共9页
辣椒红色素是目前全球销量最大的纯天然可食用色素,培育高辣椒红色素品种为辣椒产业重要任务。通过对255份一年生栽培种辣椒核心种质的辣椒红素含量进行全基因组关联分析(genome-wide association study,GWAS),在第1、2、3、5、6、8、9... 辣椒红色素是目前全球销量最大的纯天然可食用色素,培育高辣椒红色素品种为辣椒产业重要任务。通过对255份一年生栽培种辣椒核心种质的辣椒红素含量进行全基因组关联分析(genome-wide association study,GWAS),在第1、2、3、5、6、8、9、10、11和12号染色体均关联到与辣椒红素含量显著相关的区间,关联区间内共包括93个基因,根据功能注释和转录表达数据预测了3个影响辣椒果实中辣椒红素含量的候选基因。通过对高辣椒红色素材料Pep-340、低辣椒红色素材料Pep-276构建的F2群体进行混合分组分析法-测序(bulked segregant analysis-sequencing,BSA-seq)分析,在第1、3、5和10号染色体定位到与辣椒红色素含量相关区间,其中第3和5号染色体上的定位区间与GWAS分析中的显著相关区间相近或重合;利用这两个区间的In Del分子标记,进行遗传连锁分析,将调控辣椒红色素含量基因定位在3号染色体的q CC3.1,物理位置为22.8~25.9 Mb,其中含有99个基因,根据功能注释和转录组分析,预测了4个影响辣椒果实中辣椒红色素含量的候选基因Capana03g001314、Capana03g001325、Capana03g001334和Capana03g001387。研究结果为调控辣椒中辣椒红色素含量基因精细定位及分子标记辅助选择育种奠定基础。 展开更多
关键词 辣椒 辣椒红色素 gwas BSA-seq QTL
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Identification of powdery mildew resistance loci in wheat by integrating genome-wide association study(GWAS) and linkage mapping 被引量:2
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作者 Genqiao Li Xiangyang Xu +7 位作者 Chengcheng Tan Brett F.Carver Guihua Bai Xuewen Wang J.Michael Bonman Yanqi Wu Robert Hunger Christina Cowger 《The Crop Journal》 SCIE CAS CSCD 2019年第3期294-306,共13页
Wheat powdery mildew(Blumeria graminis f.sp.tritici, Bgt) is a disease of increasing importance globally due to the adoption of high yielding varieties and modern sustainable farming technologies.Growing resistant cul... Wheat powdery mildew(Blumeria graminis f.sp.tritici, Bgt) is a disease of increasing importance globally due to the adoption of high yielding varieties and modern sustainable farming technologies.Growing resistant cultivars is a preferred approach to managing this disease, and novel powdery mildew resistance genes are urgently needed for new cultivar development.A genome-wide association study was performed on a panel of 1292 wheat landraces and historical cultivars using 5011 single nucleotide polymorphism(SNP)markers.The association panel was evaluated for reactions to three Bgt inoculants, OKS(14)-B-3-1, OKS(14)-C-2-1, and Bgt15.Linkage disequilibrum(LD) analysis indicated that genome-wide LD decayed to 0.1 at 23 Mb, and population structure analysis revealed seven subgroups in the panel.Association analysis using a mixed linear model(MLM) identified three loci for powdery mildew resistance on chromosome 2 B, designated QPm.stars-2BL1,QPm.stars-2BL2, and QPm.stars-2BL3.To evaluate the efficacy of GWAS in gene discovery,QPm.stars-2BL2 was validated using F2 and F2:3 populations derived from PI420646 × OK1059060-126135-3.Linkage analysis delimited the powdery mildew resistance gene in PI 420646 to an interval where QPm.stars-2BL2 was located, lending credence to the GWAS results.QPm.stars-2BL1 and QPm.stars-2BL3, which were associated with four SNPs located at 457.7–461.7 Mb and two SNPs located at 696.6–715.9 Mb in the Chinese Spring reference IWGSC RefSeq v1.0, respectively, are likely novel loci for powdery mildew resistance and can be used in wheat breeding to improve powdery mildew resistance. 展开更多
关键词 WHEAT Powdery MILDEW gwas LINKAGE mapping GENOME-WIDE LINKAGE disequilibrium
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Genetic Study of Complex Diseases in the Post-GWAS Era 被引量:10
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作者 Qingyang Huang 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2015年第3期87-98,共12页
Genome-wide association studies (GWASs) have identified thousands of genes and genetic variants (mainly SNPs) that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation ... Genome-wide association studies (GWASs) have identified thousands of genes and genetic variants (mainly SNPs) that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings. 展开更多
关键词 SNP Genome-wide association study Complex diseases Systems genetics Network biology
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山西谷子萌发期耐盐性鉴定及相关性状GWAS分析 被引量:1
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作者 秦慧彬 任觐 +6 位作者 娄坤 商春悦 阳世杰 侯森 李萌 王海岗 穆志新 《植物遗传资源学报》 北大核心 2025年第1期108-119,共12页
为研究山西谷子萌发期耐盐性、筛选与谷子耐盐性相关的候选基因,及了解谷子种子在盐胁迫下萌发相关性状的遗传机制,本试验共抽取333份山西核心种质,在光照培养室采用170 mmol/L NaCl溶液胁迫,对萌发期谷子进行耐盐性鉴定。采用隶属函值... 为研究山西谷子萌发期耐盐性、筛选与谷子耐盐性相关的候选基因,及了解谷子种子在盐胁迫下萌发相关性状的遗传机制,本试验共抽取333份山西核心种质,在光照培养室采用170 mmol/L NaCl溶液胁迫,对萌发期谷子进行耐盐性鉴定。采用隶属函值法对谷子耐盐等级进行分类,以相对发芽势、相对发芽率、相对根长、相对芽长、相对发芽指数5个相关性状的综合评价D值对谷子萌发期耐盐性进行评价。结合核心种质重测序结果,开展耐盐性全基因组在萌发期的关联分析。结果表明,供试谷子核心种质耐盐性差异显著,利用综合评价D值,把333份谷子核心种质的耐盐性划分为5类,其中高耐盐种质有17份。全基因组关联分析共检测到84个与萌发期耐盐性相关的SNP位点,对显著关联SNPs所在基因进行功能注释,分析筛选到与萌发期相关的耐盐候选基因Millet_GLEAN_10019153,并对该基因进行了单倍型分析。本研究结果对耐盐谷子种质的鉴选及耐盐基因挖掘具有一定参考意义。 展开更多
关键词 谷子 核心种质 萌发期 耐盐性 gwas
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整合eQTL和GWAS数据识别潜在功能基因位点在动物遗传育种中的研究进展
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作者 曹雨 周铂涵 +7 位作者 许琦 袁子翱 苏蕊 吕琦 李金泉 张燕军 王瑞军 王志英 《畜牧兽医学报》 北大核心 2025年第10期4759-4773,共15页
精准识别与动物经济性状显著相关的潜在功能基因位点,对提升动物个体育种效果和改良生产性能具有重要的理论与实践意义。随着组学技术的发展,整合多组学数据已成为提高基因鉴定准确性的有效策略。其中,表达数量性状基因座(expression qu... 精准识别与动物经济性状显著相关的潜在功能基因位点,对提升动物个体育种效果和改良生产性能具有重要的理论与实践意义。随着组学技术的发展,整合多组学数据已成为提高基因鉴定准确性的有效策略。其中,表达数量性状基因座(expression quantitative trait locus,eQTL)分析为解析基因型与经济性状的关联机制以及基因表达的遗传调控网络提供了新的研究视角,使其成为后全基因组关联分析(post-genome-wide association studies,Post-GWAS)时代的重要研究方向。本文首先介绍了eQTL分析的基本原理与方法,然后重点探讨了整合eQTL与GWAS数据提升功能基因位点鉴定效率的策略与方法及其在重要家畜(牛、猪、鸡、羊)遗传育种方面的应用。最后归纳总结了在应用过程中存在的问题,为深入解析动物复杂性状的遗传机制提供了理论依据,同时为推进动物生物育种技术创新、助力种业振兴奠定了重要基础。 展开更多
关键词 EQTL gwas 功能基因位点 动物育种
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