Association analysis

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  • 文章类型: Journal Article
    Persulfate advanced oxidation technology is widely utilized for remediating organic-contaminated groundwater. Post-remediation by persulfate oxidation, the aromaticity of dissolved organic matter (DOM) in groundwater is significantly reduced. Nevertheless, the evolution trends of aromaticity and related structural changes in DOM remained unclear. Here, we selected eight types of DOM to analyze the variation in aromaticity, molecular weight, and fluorescence characteristics during oxidation by persulfate using optical spectroscopy and parallel faction analysis combined with two-dimensional correlation spectroscopy analysis (2D PARAFAC COS). The results showed diverse trends in the changes of aromaticity and maximum fluorescence intensity (Fmax) among different types of DOM as the reaction time increases. Four types of DOM (humic acid 1S104H, fulvic acid, and natural organic matters) exhibited an initially noteworthy increase in aromaticity followed by a decrease, while others demonstrated a continuous decreasing trend (14.3% - 69.4%). The overall decreasing magnitude of DOM aromaticity follows the order of natural organic matters ≈ commercial humic acid > fulvic acid > extracted humic acid. The Fmax of humic acid increased, exception of commercial humic acid. The Fmax of fulvic acid initially decreased and then increased, while that of natural organic matters exhibited a decreasing trend (86.4%). The fulvic acid-like substance is the main controlling factor for the aromaticity and molecular weight of DOM during persulfate oxidation process. The oxidation sequence of fluorophores in DOM is as follows: fulvic-like substance, microbial-derived humic-like substance, humic-like substance, and aquatic humic-like substance. The fulvic-like and microbial-derived humic-like substances at longer excitation wavelengths were more sensitive to the response of persulfate oxidation than that of shorter excitation wavelengths. This result reveals the structure evolution of DOM during persulfate oxidation process and provides further support for predicting its environmental behavior.
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  • 文章类型: Journal Article
    背景:Chayote是葫芦科的高经济作物,在粮食生产中发挥着重要作用,疾病治疗和工业可降解材料的生产。由于环境恶劣,如高温,干旱和霜冻,一些佛手瓜资源正在逐渐消失。重要的是收集,表征,并保存佛手球资源。然而,到目前为止,尚未对中国佛手瓜资源的遗传多样性进行研究。
    结果:在这项研究中,我们从中国14个省收集了35只佛手瓜。随后,我们从佛手瓜基因组中发现了363,156个SSR基序,并设计了57对SSR引物进行验证。在这些中,48对引物成功扩增条带,其中42个显示多态性。这42对引物共检测到153个等位基因,每个基因座平均3.64个等位基因。多态信息含量范围为0.03至0.78,平均值为0.41,表明多态性水平较高。基于使用结构分析,PCoA,和UPGMA方法,这35个佛手瓜个体被分为两个主要的集群。通过进一步的关联分析,确定了7个显著相关的SSR标记,包括四个与皮颜色有关,三个与脊柱有关。
    结论:这些分子标记将有助于将来佛手瓜的遗传多样性分析和遗传育种改进。
    BACKGROUND: Chayote is a high economic crop in the Cucurbitaceae family, playing an important role in food production, disease treatment and the production of degradable materials in industries. Due to the harsh environment, such as high temperature, drought and frost, some chayote resources are gradually disappearing. It is crucial to collect, characterize, and conserve chayote resources. However, the genetic diversity of chayote resources in China has not been studied so far.
    RESULTS: In this study, we collected 35 individuals of chayote from 14 provinces in China. Subsequently, we found 363,156 SSR motifs from the chayote genome and designed 57 pairs of SSR primers for validation. Out of these, 48 primer pairs successfully amplified bands, with 42 of them showing polymorphism. These 42 primer pairs detected a total of 153 alleles, averaging 3.64 alleles per locus. The polymorphic information content ranged from 0.03 to 0.78, with an average value of 0.41, indicating a high level of polymorphism. Based on the analysis using STRUCTURE, PCoA, and UPGMA methods, the 35 chayote individuals were divided into two major clusters. Through further association analysis, 7 significantly associated SSR markers were identified, including four related to peel color and three related to spine.
    CONCLUSIONS: These molecular markers will contribute to the analysis of genetic diversity and genetic breeding improvement of chayote in the future.
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  • 文章类型: Journal Article
    单核苷酸多态性(SNP)是由单个核苷酸的变异引起的基因组水平性状,导致DNA序列的多样性。SNP筛选通常用于为牦牛育种工作提供候选基因。整联蛋白亚基α9(ITGA9)是一种整联蛋白。它在细胞粘附中起着重要的作用,信令,和其他过程。这项研究的目的是讨论ITGA9基因的遗传多态性与乳质性状之间的关联,并确定潜在的分子标记位点用于牦牛育种品质。我们使用IlluminaYakcGPS7K液体芯片对162头牦牛进行了基因分型,并鉴定了牦牛ITGA9基因中9个SNP位点的多态性存在。结果表明,突变基因型在位点g.285,808T>A,g.306,600T>C,g.315,413C>T与酪蛋白含量呈正相关,蛋白质,总固体(TS),牦牛奶中的固体脱脂(SNF)。在其他位点,杂合基因型与牦牛乳中营养成分呈正相关。然后,基于连锁不平衡构建了两个ITGA9单倍型区块,这有助于更准确地筛选ITGA9作为牦牛乳品质改善的候选基因。总之,我们鉴定了与牦牛乳品质性状相关的SNPs和单倍型区块,为牦牛育种中的标记辅助选择提供了遗传资源。
    A single-nucleotide polymorphism (SNP) is a genome-level trait that arises from a variation in a single nucleotide, leading to diversity in DNA sequences. SNP screening is commonly used to provide candidate genes for yak breeding efforts. Integrin Subunit Alpha 9 (ITGA9) is an integrin protein. It plays an important role in cell adhesion, signalling, and other processes. The aim of this study was to discuss the association between genetic polymorphisms in the ITGA9 gene and milk quality traits and to identify potential molecular marker loci for yak breeding quality. We genotyped 162 yaks using an Illumina Yak cGPS 7K liquid chip and identified the presence of polymorphisms at nine SNP loci in the ITGA9 gene of yaks. The results showed that the mutant genotypes in the loci g.285,808T>A, g.306,600T>C, and g.315,413C>T were positively correlated with the contents of casein, protein, total solids (TS), and solid nonfat (SNF) in yak milk. In other loci, heterozygous genotypes had a positive correlation with nutrient content in yak milk. Then, two ITGA9 haplotype blocks were constructed based on linkage disequilibrium, which facilitated a more accurate screening of ITGA9 as a candidate gene for yak milk quality improvement. In conclusion, we identified SNPs and haplotype blocks related to yak milk quality traits and provided genetic resources for marker-assisted selection in yak breeding.
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  • 文章类型: Journal Article
    背景:过敏性鼻炎(AR)是一种过敏性疾病,其特征是T辅助细胞2(Th2)的显性分化。BACH2在调节Th2免疫应答中起关键作用。本研究旨在探讨BACH2单核苷酸多态性(SNPs)与AR易感性的关系。
    方法:陕北汉族,中国被选为主题。从受试者外周血中提取DNA后,基因分型通过AgenaMassARRAY平台完成.Logistic回归分析用于评估相关性。多变量降维(MDR)用于评估SNP-SNP之间的相互作用对AR易感性的影响。使用假阳性报告概率(FPRP)分析来测试本研究中获得的显着结果是否值得注意。
    结果:BACH2-rs905670和-rs2134814与AR的风险增加显著相关。rs905670的突变等位基因'A'(OR=1.36,p=0.018)和rs2134814的突变等位基因'G'(OR=1.34,p=0.027)是AR的危险遗传因素。在分层分析中进一步观察到上述遗传关联:BACH2-rs905670和-rs2134814与女性AR风险增加显着相关,年龄超过43岁,以及在黄土丘陵工作和生活的参与者(OR>1,p<0.05)。
    结论:BACH2-rs905670和-rs2134814与AR风险增加显著相关。
    BACKGROUND: Allergic rhinitis (AR) is an allergic disease characterized by the dominant differentiation of T helper cell 2 (Th2). BACH2 plays a key role in regulating Th2 immune response. This study aimed to explore the association between BACH2 single nucleotide polymorphism (SNPs) and susceptibility to AR.
    METHODS: Han population from northern Shaanxi, China was chosen as subjects. After the DNA extraction from the peripheral blood of subjects, genotyping was completed through the Agena MassARRAY platform. Logistic regression analysis was used to assess the association. Multivariate dimensionality reduction (MDR) was used to evaluate the effect of the interaction between \'SNP-SNP\' on susceptibility to AR. Using false-positive report probability (FPRP) analysis to test whether the significant results obtained in this study were noteworthy.
    RESULTS: BACH2-rs905670 and -rs2134814 were significantly associated with increased risk of AR. The mutant allele \'A\' of rs905670 (OR = 1.36, p = 0.018) and mutant allele \'G\' of rs2134814 (OR = 1.34, p = 0.027) were risk genetic factors for AR. The above genetic association was further observed in the stratified analysis: BACH2-rs905670 and-rs2134814 were significantly associated with an increased risk of AR in females, aging older than 43 years, and participants working and living in the loess hills (OR > 1, p < 0.05).
    CONCLUSIONS: BACH2-rs905670 and -rs2134814 are significantly associated with increasing AR risk.
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  • 文章类型: Journal Article
    长期以来,人们已经认识到收获前发芽(PHS)与种皮颜色之间的关联。与白粒小麦相比,红粒小麦通常表现出较高的PHS抗性,尽管红粒品种中存在PHS抗性的变异性。这里,我们对由红粒小麦品种组成的小组进行了全基因组关联研究,旨在使用数字图像处理技术发现调节PHS抗性和种皮红色成分的基因。确定了与PHS性状相关的12个基因座,其中9个是第一次描述。由SNPAX-95172164(染色体1B)和AX-158544327(染色体7D)标记的遗传基因座解释了大约25%的发芽指数变异,突出了它们对培育抗PHS品种的价值。PHS抗性最有希望的候选基因是TraesCS6B02G147900,编码参与糊粉层形态发生的蛋白质。26个SNP与谷物颜色显着相关,独立于已知的Tamyb10基因。它们中的大多数与多种颜色特征有关。揭示的基因座内的基因优先级确定了TraesCS1D03G0758600和TraesCS7B03G1296800,它们参与调节色素生物合成和控制色素积累。总之,我们的研究确定了与谷物颜色和发芽指数相关的新基因座,提供对这些性状的遗传机制的见解。
    The association between pre-harvest sprouting (PHS) and seed coat color has long been recognized. Red-grained wheats generally exhibit greater PHS resistance compared to white-grained wheat, although variability in PHS resistance exists within red-grained varieties. Here, we conducted a genome-wide association study on a panel consisting of red-grained wheat varieties, aimed at uncovering genes that modulate PHS resistance and red color components of seed coat using digital image processing. Twelve loci associated with PHS traits were identified, nine of which were described for the first time. Genetic loci marked by SNPs AX-95172164 (chromosome 1B) and AX-158544327 (chromosome 7D) explained approximately 25% of germination index variance, highlighting their value for breeding PHS-resistant varieties. The most promising candidate gene for PHS resistance was TraesCS6B02G147900, encoding a protein involved in aleurone layer morphogenesis. Twenty-six SNPs were significantly associated with grain color, independently of the known Tamyb10 gene. Most of them were related to multiple color characteristics. Prioritization of genes within the revealed loci identified TraesCS1D03G0758600 and TraesCS7B03G1296800, involved in the regulation of pigment biosynthesis and in controlling pigment accumulation. In conclusion, our study identifies new loci associated with grain color and germination index, providing insights into the genetic mechanisms underlying these traits.
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  • 文章类型: Journal Article
    假体周围关节感染(PJIs)是假体手术的严重并发症。PJI的诊断标准将临床和实验室发现整合在复杂且有时不确定的工作流程中。宿主免疫因子作为骨和关节感染的诊断生物标志物具有潜力。我们报道,体液模式识别分子长五聚素3(PTX3)可预测全髋和膝关节置换术中的PJI(THA和TKA,分别)。PTX3和炎症基因的遗传变异是否以及如何影响其表达(IL-1β,IL-6,IL-10和IL-17A)与PJI的风险关系未知。我们对高加索历史队列的THA和TKA患者进行了病例对照研究,这些患者由于PJI(病例)或无菌并发症(对照)而进行了假体外植体。收集93名受试者的唾液,用于提取DNA和基因型PTX3,IL-1β,IL-6、IL-10和IL-17A单核苷酸多态性(SNP)。此外,IL-1β的浓度,在滑液和血浆中测量IL-10和IL-6。PTX3多态性与PJI之间没有发现关联;然而,AGG单倍型,包括IL-1β中的rs2853550、rs1143634和rs1143627,与感染有关(p=0.017)。此外,所有炎症标志物的滑膜水平均高于对照组,仅在病例中,PTX3的滑膜浓度与IL-1β的滑膜浓度之间存在相关性(Spearmanr=0.67,p=0.004)。我们确定了rs2853550与IL-1β和PTX3滑膜浓度之间的关系。我们的发现表明,IL-1βSNP可用于早期识别具有高感染风险的THA和TKA患者。
    Periprosthetic joint infections (PJIs) are serious complications of prosthetic surgery. The criteria for the diagnosis of PJI integrate clinical and laboratory findings in a complex and sometimes inconclusive workflow. Host immune factors hold potential as diagnostic biomarkers in bone and joint infections. We reported that the humoral pattern-recognition molecule long pentraxin 3 (PTX3) predicts PJI in total hip and knee arthroplasty (THA and TKA, respectively). If and how genetic variation in PTX3 and inflammatory genes that affect its expression (IL-1β, IL-6, IL-10, and IL-17A) contributes to the risk of PJI is unknown. We conducted a case-control study on a Caucasian historic cohort of THA and TKA patients who had prosthesis explant due to PJI (cases) or aseptic complications (controls). Saliva was collected from 93 subjects and used to extract DNA and genotype PTX3, IL-1β, IL-6, IL-10, and IL-17A single-nucleotide polymorphisms (SNPs). Moreover, the concentration of IL-1β, IL-10, and IL-6 was measured in synovial fluid and plasma. No association was found between PTX3 polymorphisms and PJI; however, the AGG haplotype, encompassing rs2853550, rs1143634, and rs1143627 in IL-1β, was linked to the infection (p = 0.017). Also, synovial levels of all inflammatory markers were higher in cases than in controls, and a correlation emerged between synovial concentration of PTX3 and that of IL-1β in cases only (Spearman r = 0.67, p = 0.004). We identified a relationship between rs2853550 and the synovial concentration of IL-1β and PTX3. Our findings suggest that IL-1β SNPs could be used for the early identification of THA and TKA patients with a high risk of infection.
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  • 文章类型: Journal Article
    弓形虫(T.gondii)是一种机会性病原体,影响约1/3的世界人口。虽然免疫功能正常的个体通常无症状,它可以导致免疫功能低下患者的严重弓形虫病。最近的研究揭示了弓形虫感染和神经精神疾病之间的潜在联系。我们实施了一项队列研究和一项病例对照研究,以进一步确定这种关联。在队列研究中,我们分析了英国生物银行数据库的数据,其中包括8814名接受弓形虫SAG1抗体检测的个体,基线时没有神经精神疾病。其中,22.52%(n=1985)的SAG1抗体检测呈阳性。平均随访12.26年,Cox比例风险模型和逻辑回归分析显示,基线时SAG1血清阳性与精神分裂症发病率之间存在显著关联(HR:5.89;95%CI:1.69-20.53)。在我们的病例对照研究中,纳入239例精神分裂症患者和455例健康个体。使用改良的凝集试验(MAT)检测弓形虫抗体,logistic回归分析显示,精神分裂症患者弓形虫感染率(10.04%)高于健康对照组(3.74%).弓形虫感染是精神分裂症的重要危险因素(OR:3.33;95%CI:1.68-6.61)。然而,我们的调查没有揭示弓形虫感染与其他神经精神疾病之间的紧密关联,包括老年痴呆症,痴呆症,焦虑,抑郁症,神经退行性疾病,和周围神经疾病,如神经和神经丛疾病。
    Toxoplasma gondii (T. gondii) is an opportunistic pathogen affecting about 1/3 of world population. While often asymptomatic in immunocompetent individuals, it can lead to severe toxoplasmosis in immunocompromised patients. Recent research has unveiled a potential link between T. gondii infection and neuropsychiatric diseases. We implemented both a cohort study and a case control study to further identify this association. In the cohort study, we analyzed data from the UK Biobank database, which included 8814 individuals tested for T. gondii SAG1 antibodies and free of neuropsychiatric disorders at baseline. Among them, 22.52% (n = 1985) tested positive for SAG1 antibody. Over an average follow-up period of 12.26 years, Cox proportional hazards models and logistic regression analysis revealed a significant association between the SAG1 seropositivity at baseline and the incidence of schizophrenia (HR: 5.89; 95% CI: 1.69-20.53). In our case-control study, 239 patients diagnosed with schizophrenia and 455 healthy individuals were involved. Using the modified agglutination test (MAT) to detect T. gondii antibodies, logistic regression analysis showed a higher prevalence of T. gondii infection among schizophrenia patients (10.04%) compared to healthy controls (3.74%). T. gondii infection emerged as a significant risk factor for schizophrenia (OR: 3.33; 95% CI: 1.68-6.61). However, our investigations did not reveal a robust association between T. gondii infection and other neuropsychiatric conditions, including Alzheimer\'s disease, dementia, anxiety, depression, neurodegenerative disorders, and peripheral neurological disorders such as neurological and plexus disorders.
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  • 文章类型: Journal Article
    腺苷双磷酸酶是一类催化核苷三磷酸/二磷酸(NTP/NDP)水解的酶,广泛参与植物生长和胁迫反应的调节。然而,玉米中的三磷酸双磷酸酶家族基因尚未被鉴定,它们的特征和功能在很大程度上是未知的。在这项研究中,我们在玉米基因组中鉴定出16种磷酸双磷酸酶(命名为ZmAPY1-ZmAPY16),并分析了它们的系统发育关系,基因结构,染色体分布,上游调控转录因子和表达模式。转录组数据库的分析揭示了玉米中ZmAPY基因的组织特异性和非生物胁迫响应性表达。qPCR分析进一步证实了他们对干旱的反应,热,冷压力。关联分析表明,ZmAPY5和ZmAPY16的变异可能调节玉米农艺性状和干旱响应。我们的发现揭示了玉米三磷酸双磷酸酶基因的分子特征和进化史,强调它们在各种生物过程和应激反应中的作用。这项研究为进一步探索玉米中的腺苷三磷酸双磷酸酶功能奠定了基础。
    在线版本包含补充材料,可在10.1007/s11032-024-01474-9获得。
    Apyrase is a class of enzyme that catalyzes the hydrolysis of nucleoside triphosphates/diphosphates (NTP/NDP), which widely involved in regulation of plant growth and stress responses. However, apyrase family genes in maize have not been identified, and their characteristics and functions are largely unknown. In this study, we identified 16 apyrases (named as ZmAPY1-ZmAPY16) in maize genome, and analyzed their phylogenetic relationships, gene structures, chromosomal distribution, upstream regulatory transcription factors and expression patterns. Analysis of the transcriptome database unveiled tissue-specific and abiotic stress-responsive expression of ZmAPY genes in maize. qPCR analysis further confirmed their responsiveness to drought, heat, and cold stresses. Association analyses indicated that variations of ZmAPY5 and ZmAPY16 may regulate maize agronomic traits and drought responses. Our findings shed light on the molecular characteristics and evolutionary history of maize apyrase genes, highlighting their roles in various biological processes and stress responses. This study forms a basis for further exploration of apyrase functions in maize.
    UNASSIGNED: The online version contains supplementary material available at 10.1007/s11032-024-01474-9.
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  • 文章类型: Journal Article
    帕金森病(PD)和原发性震颤(ET)是两种最常见的震颤疾病,具有公认的遗传发病机制。重叠的临床特征表明它们可能具有遗传易感性。我们先前的研究系统地调查了ET相关基因中罕见的编码变异与早发性PD(EOPD)之间的关联。并发现了teneurin跨膜蛋白4(TENM4)与EOPD之间的暗示性关联。在目前的研究中,我们探索了ET相关遗传基因座/基因与散发性晚发性PD(LOPD)之间潜在的遗传相互作用.
    我们在1962年散发性LOPD病例和来自中国大陆的1279个对照中进行了全基因组测序。我们首先使用逻辑回归分析来测试通过ET全基因组关联研究确定的前16个SNP,用于ET和LOPD之间的关联。然后,我们应用优化的序列内核关联测试来探索该队列中33个ET相关基因的罕见变异负担。
    我们没有观察到所包括的SNP与LOPD之间的显著关联。我们也没有发现与LOPD风险相关的ET相关基因的罕见有害变异的显著负担。
    我们的结果不支持ET相关的遗传基因座和变异体在LOPD中的作用。
    招募了1962年病例和1279名对照,以研究ET相关遗传位点/变异与散发性LOPD之间的潜在遗传相互作用。未观察到ET相关SNP与LOPD之间的显著关联。在LOPD风险中未发现ET相关基因的罕见有害变体的显着负担。
    UNASSIGNED: Parkinson\'s disease (PD) and Essential tremor (ET) are the two most common tremor diseases with recognized genetic pathogenesis. The overlapping clinical features suggest they may share genetic predispositions. Our previous study systematically investigated the association between rare coding variants in ET-associated genes and early-onset PD (EOPD), and found the suggestive association between teneurin transmembrane protein 4 (TENM4) and EOPD. In the current research, we explored the potential genetic interplay between ET-associated genetic loci/genes and sporadic late-onset PD (LOPD).
    UNASSIGNED: We performed whole-genome sequencing in the 1962 sporadic LOPD cases and 1279 controls from mainland China. We first used logistic regression analysis to test the top 16 SNPs identified by the ET genome-wide association study for the association between ET and LOPD. Then we applied the optimized sequence kernel association testing to explore the rare variant burden of 33 ET-associated genes in this cohort.
    UNASSIGNED: We did not observe a significant association between the included SNPs with LOPD. We also did not discover a significant burden of rare deleterious variants of ET-associated genes in association with LOPD risk.
    UNASSIGNED: Our results do not support the role of ET-associated genetic loci and variants in LOPD.
    UNASSIGNED: 1962 cases and 1279 controls were recruited to study the potential genetic interplay between ET-associated genetic loci/variants and sporadic LOPD.No significant association between the ET-associated SNPs and LOPD were observed.No significant burden of rare deleterious variants of ET-associated gene in LOPD risk were found.
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  • 文章类型: Journal Article
    GLP-1受体激动剂(GLP-1RA)是目前临床治疗2型糖尿病(T2DM)的一线药物。它可以通过刺激胰岛素分泌和降低胰高血糖素水平来调节血糖。我们使用16SrRNA扩增子测序来检测在杜拉鲁肽给药1和48周后新诊断的T2DM的肠道菌群组成的结构变化。我们的研究发现,在对新诊断的T2DM受试者服用杜拉鲁肽1周后,肠道菌群没有显着变化。然而,杜拉鲁肽给药48周后,肠道菌群的组成发生了显著变化,肠道菌群丰度显著降低。此外,我们发现空腹血糖水平,空腹C肽水平,HbA1c水平,BMI也与肠道菌群密切相关。这表明肠道菌群可能是杜拉鲁肽治疗T2DM的机制之一。
    GLP-1 receptor agonists (GLP-1 RA) are presently used as the first-line drugs for the clinical treatment of type 2 diabetes mellitus (T2DM). It can regulate blood glucose by stimulating insulin secretion and lowering glucagon levels. We used 16S rRNA amplicon sequencing to detect structural changes in the composition of the intestinal flora of newly diagnosed T2DM after 1 and 48 weeks of dulaglutide administration. Our research found no significant changes in the intestinal flora after the administration of dulaglutide for 1 week to subjects with newly diagnosed T2DM. Nevertheless, after 48 weeks of dulaglutide administration, the composition of the intestinal flora changed significantly, with a significant reduction in the abundance of intestinal flora. Furthermore, we found that fasting glucose levels, fasting c-peptide levels, HbA1c levels, and BMI are also closely associated with intestinal flora. This reveals that intestinal flora may be one of the mechanisms by which dulaglutide treats T2DM.
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