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The impact of hydrogen sulfide on mesenchymal stem cells in rats suffering from liver fibrosis via suppression of TGF-β signaling 硫化氢通过抑制 TGF-β 信号转导对肝纤维化大鼠间充质干细胞的影响
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-06 DOI: 10.1016/j.genrep.2024.102056
Doha El-Sayed Ellakwa , Seham Mohamed Saied El Nakeeb , Sawsan Ahmed Abd El Mohsen
Worldwide, liver fibrosis (LF) causes complications and has an elevated death rate. The prevalence of mesenchymal stem cell therapy (MSC) is a result of the lack of liver donors. In recent years, the study of stem cell therapy has advanced into a promising and cutting-edge field of study. The purpose of this study is to assess the possible value of in vitro preconditioning of bone marrow-derived mesenchymal stem cells (BMSCs) with sodium hydrogen sulfide (NaHS), which aims to encourage rats to benefit from stem cell therapy with carbon tetrachloride-induced liver fibrosis. Materials and Methods: Fifty male albino rats (6 weeks old & 120–150 g) were divided equally into 5 groups (10 rats each); the 1st group served as a negative control, the 2nd group was a positive control, in which rats received 2 mL/kg CCl4 (1:1 corn oil) twice a week for five weeks, and the remaining three groups received, in addition to CCL4, a NaHS solution (10 μmol/kg) every 2 days for 6 weeks, one dose of BMSCs (3 × 106 cells per rat) intravenously, and a single dose of BMSCs (3 × 106 cells per rat) in culture with 200 μmol/L NaHS for 24 h. Quantitative gene expression of transforming growth factor-beta (TGF-β), Smad, collagen, α-SMA, MAPK, β-catenin, GSK-3B, and CBS was carried out using real-time polymerase chain reaction; whereas the serum levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), and albumin were estimated using colorimetric analysis. Also, the relative expression of MAPK, β-catenin, and GSK-3B by Western blot was done. Histopathological analysis was used to gauge the progression of LF. Results: The liver fibrosis group exhibited significantly increased serum ALT and AST levels, along with decreased serum albumin levels, compared to controls. Additionally, compared to controls, there was a rise in the gene expression of TGF-β, Smad, collagen, α-SMA, MAPK, β-catenin, and GSK-3B, while the gene expression of CBS is decreased. The biochemical parameters indicated above were greatly improved by BMSCs pretreated with H2S, and the liver sections produced from this group demonstrated a notable improvement in histopathology. Conclusion: The study investigated and demonstrated how NaHS affected the efficacy of BMSC therapy in rats with CCl4-induced liver fibrosis.
在全球范围内,肝纤维化(LF)导致并发症和死亡率升高。间充质干细胞疗法(MSC)的流行是肝脏捐献者缺乏的结果。近年来,干细胞疗法研究已发展成为一个前景广阔的前沿研究领域。本研究的目的是评估用硫化氢钠(NaHS)对骨髓间充质干细胞(BMSCs)进行体外预处理的可能价值,旨在鼓励大鼠从四氯化碳诱导的肝纤维化干细胞治疗中获益。材料与方法将50只雄性白化大鼠(6周大& 120-150 g)平均分为5组(每组10只);第1组为阴性对照,第2组为阳性对照,其中大鼠每周两次接受2 mL/kg CCl4(1:其余三组除 CCL4 外,还接受 NaHS 溶液(10 μmol/kg),每两天一次,连续 6 周;静脉注射一剂 BMSCs(每只大鼠 3 × 106 个细胞);以及单剂 BMSCs(每只大鼠 3 × 106 个细胞)与 200 μmol/L NaHS 一起培养 24 小时。采用实时聚合酶链反应对转化生长因子-β(TGF-β)、Smad、胶原蛋白、α-SMA、MAPK、β-catenin、GSK-3B 和 CBS 的基因表达进行定量分析,并采用比色法估测血清中丙氨酸氨基转移酶(ALT)、天冬氨酸氨基转移酶(AST)和白蛋白的水平。此外,还通过 Western 印迹检测了 MAPK、β-catenin 和 GSK-3B 的相对表达。组织病理学分析用于衡量 LF 的进展情况。结果与对照组相比,肝纤维化组的血清谷丙转氨酶(ALT)和谷草转氨酶(AST)水平明显升高,血清白蛋白水平下降。此外,与对照组相比,TGF-β、Smad、胶原蛋白、α-SMA、MAPK、β-catenin 和 GSK-3B 的基因表达上升,而 CBS 的基因表达下降。经 H2S 预处理的 BMSCs 大大改善了上述生化指标,该组肝脏切片的组织病理学也有明显改善。结论本研究调查并证明了 NaHS 如何影响 BMSC 对 CCl4 诱导的肝纤维化大鼠的疗效。
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引用次数: 0
Evaluation of the efficacy of medicinal plants based on immunological biomarkers in the treatment of bacterial infections: Current status and future directions 根据免疫生物标志物评估药用植物在治疗细菌感染方面的功效:现状与未来方向
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-05 DOI: 10.1016/j.genrep.2024.102052
Joefred Mbogho Abogo , Cédric Sima Obiang , Herman Begouabe , Rick Léonid Ngoua Meye Misso , Juliette Ornely Orango Bourdette , Guy Roger Ndong Atome , Louis Clément Obame Engonga , Joseph Privat Ondo
Nowadays, a variety of infectious and non-infectious disorders are treated with various plants. This paper seeks to provide a framework for assessing and tracking the management of bacterial infections using immunological indicators of inflammation (cytokines). Thus, it demonstrates the production of inflammatory markers, the regulation of these markers by various plant extracts, the elimination of the various bacteria causing bacterial infections by these plant extracts, and, of course, a current report on the consequences of bacterial infections and their resistance to antibiotics. It has been demonstrated that plant extracts have a variety of immunomodulatory effects in vivo in addition to having antibacterial efficacy against multiple bacterial strains. The potential efficacy of medicinal plant extracts in controlling immune system gene expression makes them a vital tool for the diagnosis, management, and prevention of bacterial infections. The beliefs provided in this study need further investigation and refinement using modern scientific and technological methods.
如今,各种感染性和非感染性疾病都可以用各种植物来治疗。本文旨在提供一个框架,利用炎症的免疫学指标(细胞因子)来评估和跟踪细菌感染的管理。因此,它展示了炎症标志物的产生、各种植物提取物对这些标志物的调节、这些植物提取物对引起细菌感染的各种细菌的消除,当然还有目前关于细菌感染的后果及其对抗生素的抗药性的报告。研究表明,植物提取物除了对多种细菌菌株具有抗菌功效外,还具有多种体内免疫调节作用。药用植物提取物在控制免疫系统基因表达方面的潜在功效使其成为诊断、管理和预防细菌感染的重要工具。本研究提出的观点需要利用现代科学技术方法进一步研究和完善。
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引用次数: 0
Clinical significance of Spinal Muscular Atrophy carrier detection in Guangdong Province, China: Insights from quantitative polymerase chain reaction and multiplex ligation-dependent probe amplification analysis 中国广东省脊髓性肌肉萎缩症携带者检测的临床意义:定量聚合酶链反应和多重连接依赖性探针扩增分析的启示
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-05 DOI: 10.1016/j.genrep.2024.102055
Chenxia Xu , Jianming Peng , Xuewei Wu , Shengping Xiao , Sheng Zhang , Miaoyuan Li

Objective

This study aimed to identify carriers of Spinal Muscular Atrophy (SMA) among 10,630 pregnant women in Guangdong Province and provide prenatal diagnoses for high-risk fetuses from carrier couples. The goal was to prevent the birth of children affected by SMA. We evaluated the effectiveness of quantitative PCR (qPCR) and multiplex ligation-dependent probe amplification (MLPA) in detecting deletions in the SMN1 gene, with MLPA as the reference standard.

Methods

Fluorescent qPCR was used for initial SMA carrier screening, followed by confirmatory testing with MLPA for all detected carriers.

Results

Of the 10,630 women screened, 219 were identified as carriers (2.06 % detection rate). This included 17 cases of heterozygous deletion of exon 7 (E7), 145 cases with deletions of both E7 and exon 8 (E8), and 57 cases of E8 deletion alone. The carrier rate for E7 heterozygous deletion was established at 1.5 %. Prenatal diagnosis for seven carrier couples revealed five fetuses as carriers and one affected by SMA. The diagnostic concordance between qPCR and MLPA was 100 %.

Conclusion

The combined use of qPCR and MLPA is vital in identifying SMA carriers, allowing for early diagnosis and informed reproductive decisions. The high sensitivity and specificity of qPCR, matching MLPA, demonstrate its value in clinical settings for SMA screening and prenatal diagnosis. Our findings emphasize the critical importance of selecting precise diagnostic methods to enhance clinical outcomes in genetic screening programs.
目的 本研究旨在从广东省 10,630 名孕妇中识别脊髓性肌肉萎缩症(SMA)携带者,并为携带者夫妇的高危胎儿提供产前诊断。目的是预防 SMA 患儿的出生。我们评估了定量 PCR(qPCR)和多重结扎依赖性探针扩增(MLPA)在检测 SMN1 基因缺失方面的有效性,并以 MLPA 作为参考标准。结果 在接受筛查的 10,630 名妇女中,219 人被确定为携带者(检出率为 2.06%)。其中包括 17 例外显子 7(E7)杂合子缺失病例、145 例 E7 和外显子 8(E8)同时缺失病例以及 57 例仅 E8 缺失病例。E7 杂合缺失的带原率被确定为 1.5%。七对携带者夫妇的产前诊断结果显示,五名胎儿为携带者,一名受 SMA 影响。结论 qPCR 和 MLPA 的联合使用对鉴定 SMA 携带者至关重要,可用于早期诊断和做出明智的生育决定。与 MLPA 相匹配的 qPCR 的高灵敏度和特异性证明了其在 SMA 筛查和产前诊断的临床应用中的价值。我们的研究结果强调,选择精确的诊断方法对提高基因筛查项目的临床结果至关重要。
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引用次数: 0
Integrated analysis of metabolomic and transcriptomic profiles elucidates the core role of glycerophospholipid metabolism in hypertension related to metabolic syndrome 代谢组学和转录组学的综合分析阐明了甘油磷脂代谢在与代谢综合征相关的高血压中的核心作用
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-03 DOI: 10.1016/j.genrep.2024.102049
Yongqiao Zhang , Feng Wei , Minna Tang , Ningzhi Zhang , Rui Ma , Shan Yu , Yanbin He , Xuling Liu , Jiaxin Gong , Hongtao Shi , Sisi Ning , Yuhong Zhao , Jialu Hu , Zhifeng Yao , Zhaoqiang Cui

Background

Metabolic syndrome (MetS) represents a comprehensive framework that encompasses conditions such as diabetes, hypertension (HBP), obesity, and dyslipidemia. MetS without hypertension significantly contributes to the development of refractory hypertension. However, the underlying molecular regulatory mechanisms of hypertension associated with MetS remain incompletely elucidated. The objective of this study was to identify differences in plasma metabolome and leukocyte transcriptome profiles between patients with MetS comorbid HBP compared to those with MetS with hypertension and HBP alone.

Methods

In this study, whole blood samples were collected from 104 participants, including patients with HBP, MetS without hypertension (MS), and MetS with hypertension (MS-HBP). Ultra-high-performance liquid chromatography was employed to perform metabolomic analysis of plasma samples. Comparative analysis was conducted to identify distinct metabolites among the three groups, while MetaboAnalyst 5.0 was utilized for enrichment and pathway analysis. Clinical correlation analysis and receiver operating characteristic analyses were applied to select biomarker metabolites for MS-HBP. Transcriptomic profiling of white blood cells was performed to identify dysregulated genes and KEGG/GO pathways. Integrative analysis of metabolomics and transcriptomics was used to construct molecular interaction networks. Finally, blood pressure was monitored every 2 weeks during the treatment period for experimental validation.

Results

The metabolomic results indicated that lipid metabolic pathways, particularly glycerophospholipid metabolic pathways, played a crucial role in MS-HBP. The area under the curve of tryptophan-isoleucine for diagnosis in the MS-HBP group was 0.82. Tryptophyl-isoleucine demonstrated a negative correlation with both HbA1c and diastolic blood pressure. Transcriptomic analysis revealed the involvement of MS-HBP in numerous immune and inflammatory pathways. Furthermore, the integrated analysis of metabolomic and transcriptomic data emphasized the importance of glycerophospholipid metabolism in MS-HBP. PPC exhibited a comparable effect on lowering blood pressure in SHR rats.

Conclusion

The findings of this study demonstrated that glycerophospholipid metabolism plays a pivotal role in the pathophysiological processes of MS-HBP, providing novel insights into early clinical diagnosis and the optimization of therapeutic strategies.
背景代谢综合征(MetS)是一个综合框架,包括糖尿病、高血压(HBP)、肥胖和血脂异常等病症。不伴有高血压的代谢综合征在很大程度上会导致难治性高血压的发生。然而,与 MetS 相关的高血压的潜在分子调控机制仍未完全阐明。本研究的目的是确定 MetS 合并 HBP 患者的血浆代谢组和白细胞转录组图谱与 MetS 合并高血压和单纯 HBP 患者的血浆代谢组和白细胞转录组图谱之间的差异。方法本研究收集了 104 名参与者的全血样本,包括 HBP 患者、无高血压 MetS 患者(MS)和 MetS 合并高血压患者(MS-HBP)。采用超高效液相色谱法对血浆样本进行了代谢组学分析。通过比较分析确定三组之间不同的代谢物,并利用 MetaboAnalyst 5.0 进行富集和通路分析。临床相关性分析和接收器操作特征分析被用于选择 MS-HBP 的生物标记代谢物。对白细胞进行转录组分析,以确定失调基因和 KEGG/GO 通路。代谢组学和转录组学的整合分析用于构建分子相互作用网络。结果代谢组学结果表明,脂质代谢通路,尤其是甘油磷脂代谢通路在 MS-HBP 中起着关键作用。在 MS-HBP 组中,色氨酸-异亮氨酸的诊断曲线下面积为 0.82。色氨酸-异亮氨酸与 HbA1c 和舒张压均呈负相关。转录组分析表明,MS-HBP 参与了许多免疫和炎症通路。此外,代谢组和转录组数据的综合分析强调了甘油磷脂代谢在 MS-HBP 中的重要性。结论本研究结果表明,甘油磷脂代谢在 MS-HBP 的病理生理过程中起着关键作用,为早期临床诊断和优化治疗策略提供了新的见解。
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引用次数: 0
Whole genome sequencing (WGS) and genome mining of Streptomyces sp. AFD10 for antibiotics and bioactive secondary metabolites biosynthetic gene clusters (BGCs) 链霉菌 AFD10 的全基因组测序(WGS)和基因组挖掘抗生素和生物活性次生代谢物生物合成基因簇(BGCs)
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-02 DOI: 10.1016/j.genrep.2024.102050
Adeela Fatima , Muhammad Abbas , Shahid Nawaz , Yasir Rehman , Shafiq ur Rehman , Imran Sajid
Genomic approaches are being frequently used as an advancement over the conventional drug screening strategies for exploring the medicinally useful microbial strains. This study reports the whole genome sequencing (WGS), and genome mining for antibiotics biosynthetic gene clusters (BGCs), of the desert originated Actinobacteria strain Streptomyces sp. AFD10. The genomic DNA was isolated and subjected to library preparation and sequencing on Illumina Hiseq 2500 platform. The raw sequence reads were analyzed for various quality parameters and assembled through SOAPdenovo (ver. 2). The assembled genome is composed of 467 scaffolds (N50 = 98,164) sizing around 7,891,201 bp with GC content of 72.6 %, and number of coding sequences 7246. The RAST (ver 2.0) annotation SEED Viewer subsystem overview of the genome showed the presence of 163 subsystems in the genome of Streptomyces sp. AFD10. The strain exhibited maximum ANI (average nucleotide identity) up to 97.79 % with Streptomyces violaceoruber. The AntiSMASH (version 4.2.0) analysis of assembled genome showed a total of 35 biosynthetic gene clusters (BGCs) related to the biosynthesis of antibiotics and secondary metabolites in the genome of Streptomyces sp. AFD10. The identified gene clusters were predicted to be involved in the biosynthesis of different structural classes of antibiotics such as, polyketides, tripeptides, terpenes, lantipeptides, lassopeptide and butyrolacton etc. Overall, the study revealed that the Actinobacteria strains originated from extreme environments such as deserts are a promising source of medicinally useful metabolites, and the genome mining approaches provide an alternative platform to explore these resources for the novel antibiotics discovery.
与传统的药物筛选策略相比,基因组学方法被频繁用于探索具有药用价值的微生物菌株。本研究报告了对沙漠放线菌菌株 Streptomyces sp. AFD10 的全基因组测序(WGS)和抗生素生物合成基因簇(BGC)的基因组挖掘。分离基因组 DNA 后,在 Illumina Hiseq 2500 平台上进行文库制备和测序。对原始序列读数进行了各种质量参数分析,并通过 SOAPdenovo(第 2 版)进行了组装。组装后的基因组由 467 个支架(N50 = 98 164)组成,大小约为 7 891 201 bp,GC 含量为 72.6%,编码序列数为 7246。RAST(2.0 版)注释 SEED Viewer 基因组子系统概览显示,链霉菌 AFD10 的基因组中有 163 个子系统。该菌株与 Streptomyces violaceoruber 的 ANI(平均核苷酸同一性)最高达 97.79 %。对组装基因组的 AntiSMASH(4.2.0 版)分析表明,AFD10 链霉菌基因组中共有 35 个与抗生素和次生代谢物的生物合成有关的生物合成基因簇(BGCs)。据预测,所发现的基因簇参与了不同结构类别抗生素的生物合成,如多酮类、三肽类、萜类、兰肽类、拉索肽类和丁内酯类等。总之,这项研究揭示了源自沙漠等极端环境的放线菌菌株是一种很有希望的药用代谢物来源,而基因组挖掘方法为探索这些资源以发现新型抗生素提供了另一个平台。
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引用次数: 0
Genome-wide association mapping and genomic prediction of water deficit stress tolerance indices in spring bread wheat 全基因组关联图谱和春季面包小麦耐缺水胁迫指数的基因组预测
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-02 DOI: 10.1016/j.genrep.2024.102054
Ahmad MajidiMehr , Mohammad Hadi Pahlavani , Zakaria El Gataa , Reza Amiri-Fahliani
Genome-wide association mapping (GWAM) is crucial for identifying the genetic architecture of quantitative traits, such as drought tolerance indices in bread wheat. This study aims to identify Marker-Trait Associations (MTAs) and genes related to drought tolerance indices in wheat. Seven drought tolerance indices were calculated based on grain weight per spike under field drought stress (FDS) and field non-stress (FNS) conditions. These indices included mean productivity (MP), geometric mean productivity (GMP), relative drought index (RDI), stress tolerance index (STI), tolerance index (TOL), stress susceptibility index (SSI), and yield stability index (YSI). Genotyping of the samples was performed using single nucleotide polymorphism (SNP) markers. A total of 96 MTAs were identified for the studied indices and conditions FNS and FDS in this experiment, with a threshold of -log10p ≥ 3.0. These included FNS, FDS, GMP, MP, STI, SSI, RDI, and YSI, with 15, 11, 16, 16, 20, 6, 6, and 6 MTAs, respectively. The MTAs identified for the drought tolerance indices GMP, MP, and STI were located on chromosomes 2 A, 3B, and 6 A, respectively. Moreover, this study identified four genes related to the indices, namely “TraesCS2B02G000100,” “TraesCS3A02G000100,” “TraesCS2B02G000200,” and “TraesCS4B02G000100”. These genes play a crucial role in drought tolerance and can be utilized for marker-assisted selection to enhance drought tolerance wheat genotypes.
全基因组关联图谱(GWAM)对于确定面包小麦耐旱指数等数量性状的遗传结构至关重要。本研究旨在鉴定与小麦耐旱指数相关的标记-性状关联(MTAs)和基因。在田间干旱胁迫(FDS)和田间非胁迫(FNS)条件下,根据每穗粒重计算了七个抗旱指数。这些指数包括平均生产力(MP)、几何平均生产力(GMP)、相对干旱指数(RDI)、胁迫耐受指数(STI)、耐受指数(TOL)、胁迫易感指数(SSI)和产量稳定指数(YSI)。利用单核苷酸多态性(SNP)标记对样本进行了基因分型。在本实验中,针对所研究的指数和条件 FNS 和 FDS 共鉴定出 96 个 MTA,阈值为 -log10p≥3.0。其中包括 FNS、FDS、GMP、MP、STI、SSI、RDI 和 YSI,分别有 15、11、16、16、20、6、6 和 6 个 MTA。耐旱指数 GMP、MP 和 STI 的 MTA 分别位于染色体 2 A、3B 和 6 A 上。此外,本研究还发现了与这些指数相关的四个基因,即 "TraesCS2B02G000100"、"TraesCS3A02G000100"、"TraesCS2B02G000200 "和 "TraesCS4B02G000100"。这些基因在抗旱性中起着至关重要的作用,可用于标记辅助选择,以提高小麦基因型的抗旱性。
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引用次数: 0
Association of polymorphisms in CYP2C8 and CYP2C9 with susceptibility to type 2 diabetes mellitus in a Chinese population 中国人群中 CYP2C8 和 CYP2C9 的多态性与 2 型糖尿病易感性的关系
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-02 DOI: 10.1016/j.genrep.2024.102053
Wensu Wang , Li Jin , Jianguo Shen , Yi Zhang , Rong Zhang

Aims

CYP2C8 and CYP2C9 are cytochrome P450 epoxygenases responsible for metabolizing arachidonic acid into epoxyeicosatrienoic acids (EETs). These EETs play a crucial role as lipid mediators with numerous beneficial effects in type 2 diabetes mellitus (T2DM). In this study, we aimed to investigate the association of CYP2C8 and CYP2C9 genetic variants with T2DM in a Chinese population.

Methods

We conducted genotyping for 9 tag single nucleotide polymorphisms (SNPs) in CYP2C8 and 10 tag SNPs in CYP2C9 based on HapMap Chinese and Japanese data. Subsequently, we genotyped these SNPs in a Chinese cohort comprising 3410 individuals with T2DM and 3401 healthy controls. Statistical analyses were performed to assess the association between these SNPs and T2DM.

Results

In our study population, we observed that rs1819173, located within the CYP2C9 gene region, was significantly associated with T2DM. Notably, the presence of the A allele was found to be protective against T2DM, as indicated by an odds ratio of 0.840 (95 % confidence interval: 0.780–0.904, P = 3.04 × 10−6). Furthermore, specific haplotypes (GT and AT) involving rs2071426 and rs6583967 in CYP2C8 exhibited associations with T2DM (P = 0.049 and 0.038, respectively). Subsequently, we conducted an analysis of the association between rs1819173 and non-alcoholic fatty liver disease (NAFLD), revealing a significant correlation (OR = 0.764, 95 % CI: 0.629–0.928, P = 0.007).

Conclusion

Our research identified a genetic variants rs1819173 within CYP2C8 are significantly associated with T2DM susceptibility in the Chinese population.
目的CYP2C8 和 CYP2C9 是细胞色素 P450 环氧酶,负责将花生四烯酸代谢为环二十碳三烯酸(EETs)。这些 EETs 作为脂质介质在 2 型糖尿病(T2DM)中发挥着至关重要的作用,具有多种有益功效。本研究旨在调查中国人群中 CYP2C8 和 CYP2C9 基因变异与 T2DM 的关系。方法我们根据 HapMap 中国和日本数据对 CYP2C8 中的 9 个标记单核苷酸多态性 (SNP) 和 CYP2C9 中的 10 个标记 SNP 进行了基因分型。随后,我们在由 3410 名 T2DM 患者和 3401 名健康对照者组成的中国队列中对这些 SNP 进行了基因分型。结果在我们的研究人群中,我们发现位于 CYP2C9 基因区的 rs1819173 与 T2DM 显著相关。值得注意的是,A 等位基因的存在对 T2DM 有保护作用,其几率比为 0.840(95 % 置信区间:0.780-0.904,P = 3.04 × 10-6)。此外,涉及 CYP2C8 中 rs2071426 和 rs6583967 的特定单倍型(GT 和 AT)与 T2DM 有关联(P = 0.049 和 0.038)。随后,我们对 rs1819173 与非酒精性脂肪肝(NAFLD)之间的相关性进行了分析,结果显示两者之间存在显著相关性(OR = 0.764,95 % CI:0.629-0.928,P = 0.007)。
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引用次数: 0
Assessment of genetic diversity in Bangladeshi rice (Oryza sativa L.) varieties utilizing SSR markers 利用 SSR 标记评估孟加拉国水稻(Oryza sativa L. )品种的遗传多样性
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-10-01 DOI: 10.1016/j.genrep.2024.102051
Shamsunnahar Mukta , Md. Nazmul Islam Bappy , Jubo Bhuiyan , Fatama Tous Zohora , Dilruba Afrin
One of the most fundamental staple foods for the vast majority of people on earth is rice. Farmer-grown traditional rice types which are well-adapted to a wide range of agro-ecological environments provide rich genetic resources for future rice enhancement. The quantity of allelic and genetic variety available in germplasm is a precondition for crop development and conservation techniques under severe climate conditions. However, adoption of high-yielding cultivars has led to their fast loss. Thus, the study's objective was to use marker-assisted selection (MAS) to examine the molecular diversity of rice genotypes using Simple Sequence Repeat (SSR) markers. Eighteen elite rice (Oryza sativa L.) germplasms from Bangladesh were chosen for genetic diversity analysis by SSR marker analysis. PCR amplification of the alleles was carried out and Visualized by Polyacrylamide Gel Electrophoresis (PAGE) system. Four primer pairs that were dispersed across eighteen rice chromosomes were used to detect polymorphisms initially. One representative from each chromosome made up the microsatellite marker panel that was selected, which included RM60, RM163, RM259, and RM278. With an average of 4.75 alleles per locus, a total of 19 alleles were found. Among the four loci spanning eighteen rice accessions, there was a moderate degree of genetic diversity; the average value of these loci is 0.67, ranging from 0.59 to 0.77. With an average of 0.7166, the polymorphism information content (PIC) represents the allele diversity frequency among the varieties, ranging from 0.6481 to 0.8025. Based on PIC values, RM 60 was determined to be the most effective marker for genotype identification. Six clusters were found with a similarity coefficient of 48 % using the Unweighted Pair Group Method with Arithmetic Mean (UPGMA) dendrogram and the broad range of dissimilarity values (0.25–0.1), indicating a high level of cultivar diversity. Using a molecular breeding program, the results of the genetic diversity will help to select parents for rice varieties that can withstand different biotic and abiotic stresses.
水稻是地球上绝大多数人最基本的主食之一。农民种植的传统水稻类型能够很好地适应各种农业生态环境,为未来水稻的改良提供了丰富的遗传资源。种质中的等位基因和遗传品种数量是恶劣气候条件下作物开发和保护技术的先决条件。然而,高产栽培品种的采用导致其快速流失。因此,本研究的目标是利用简单序列重复(SSR)标记,采用标记辅助选择(MAS)技术研究水稻基因型的分子多样性。研究人员选择了孟加拉国的 18 个水稻(Oryza sativa L.)精英种质,通过 SSR 标记分析进行遗传多样性分析。通过聚丙烯酰胺凝胶电泳(PAGE)系统对等位基因进行 PCR 扩增和可视化。最初使用分散在 18 条水稻染色体上的四对引物来检测多态性。每个染色体上的一个代表组成了微卫星标记组,包括 RM60、RM163、RM259 和 RM278。每个位点平均有 4.75 个等位基因,共发现 19 个等位基因。在横跨 18 个水稻品种的 4 个位点中,存在中等程度的遗传多样性;这些位点的平均值为 0.67,范围在 0.59 至 0.77 之间。多态性信息含量(PIC)平均为 0.7166,代表了品种间等位基因的多样性频率,范围在 0.6481 至 0.8025 之间。根据 PIC 值,RM 60 被确定为最有效的基因型鉴定标记。利用算术平均非加权配对组法(UPGMA)树枝图发现了 6 个聚类,相似系数为 48%,差异值范围很广(0.25-0.1),表明栽培品种的多样性水平很高。利用分子育种计划,遗传多样性的结果将有助于选择能够承受不同生物和非生物胁迫的水稻亲本。
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引用次数: 0
In-silico identification of simple sequence repeat (SSR) markers and phylogenetic analysis from chloroplast genomes of the genus Bambusa 簕杜鹃属叶绿体基因组中简单序列重复(SSR)标记的内部鉴定和系统发育分析
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-09-28 DOI: 10.1016/j.genrep.2024.102048
Swati Pandey, Atul Bhargava
Microsatellites or simple sequence repeats (SSRs), are short DNA sequences composed of repetitive units typically 1 to 6 base pairs long. These highly variable sequences are found in both protein-coding and noncoding DNA regions and exhibit a high degree of polymorphism. In the present study, chloroplast genomes of five species of Bambusa viz. B. bambos, B. multiplex, B. teres, B. vulgaris, and B. tulda, along with three outgroup species viz. Sorghum timorense, Hordeum vulgare, and Triticum aestivum were retrieved from NCBI in FASTA and GenBank formats and screened for chloroplast SSRs (cpSSRs) using MISA Perl script. The sequence analysis of the chloroplast genomes of different species of Bambusa confirmed the presence of 144 cpSSRs. The number of cpSSRs varied among the five bamboo species, with B. vulgaris exhibiting the highest count (31) and B. multiplex showing the lowest (27). Tetranucleotides were the most observed repeats in Bambusa, followed by mono-, di- and trinucleotides. Of the 144 SSR markers identified, only 16 (11.11 %) were suitable for primer design since the remaining sequences failed to produce acceptable primer pairs. An unweighted pair-group method with an arithmetic mean (UPGMA) dendrogram was constructed to analyze the genetic relationships among the genotypes. This analysis revealed three distinct clusters among the genotypes. SSR markers were found to be informative in differentiating the species of Bambusa and were likely to find potential applications in genetic fingerprinting, population genetics, conservation, and phylogenetics.
微卫星或简单序列重复序列(SSR)是由重复单元组成的短 DNA 序列,长度一般为 1 到 6 个碱基对。这些高度可变的序列存在于蛋白质编码和非编码 DNA 区域,并表现出高度的多态性。本研究以 FASTA 和 GenBank 格式从 NCBI 检索了五个簕杜鹃物种(B. bambos、B. multiplex、B. teres、B. vulgaris 和 B. tulda)以及三个外群物种(Sorghum timorense、Hordeum vulgare 和 Triticum aestivum)的叶绿体基因组,并使用 MISA Perl 脚本筛选了叶绿体 SSR(cpSSR)。对不同种类簕杜鹃叶绿体基因组的序列分析证实了 144 个 cpSSR 的存在。五种竹子的 cpSSR 数量各不相同,其中粗竹子的 cpSSR 数量最多(31 个),多节竹子的 cpSSR 数量最少(27 个)。在簕竹中观察到最多的重复序列是四核苷酸,其次是单核苷酸、二核苷酸和三核苷酸。在鉴定出的 144 个 SSR 标记中,只有 16 个(11.11%)适合设计引物,因为其余序列未能产生可接受的引物对。为分析基因型之间的遗传关系,构建了一个算术平均的非加权成对分组法(UPGMA)树枝图。该分析表明基因型之间存在三个不同的聚类。研究发现,SSR 标记在区分簕杜鹃物种方面具有参考价值,有望在遗传指纹学、种群遗传学、物种保护和系统发育学中得到应用。
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引用次数: 0
Introduction of MYBL2 as a common regulator between AHR and RELA: Its relationship with lnc-UCC and lnc-HOTTIP in glioblastoma multiforme 引入 MYBL2 作为 AHR 和 RELA 的共同调控因子:它与多形性胶质母细胞瘤中的 lnc-UCC 和 lnc-HOTTIP 的关系
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-09-28 DOI: 10.1016/j.genrep.2024.102046
Ramin Soltani , Alireza Tabibkhooei , Morteza Hadizadeh , Sepideh Parvizpour , Roohallah Mahdi Esferizi , Sorayya Ghasemi
This study aimed to validate the experimental gene expression level of a common gene in the Aryl Hydrocarbon Receptor (AHR) and RELA in glioblastoma multiforme (GBM) using bioinformatics.
RNAseq data was analyzed to identify differentially expressed genes (DEGs), and LncRNAs related to the regulation of the founded gene were identified by the RNA Interactome Database. Ten healthy controls and 28 GBM patients' tissue samples were gathered, and the change in gene expression levels was measured by real-time PCR.
The results showed that MYBL2 is a common regulator between the AHR and RELA, and the expression of MYBL2, lnc-UCC, and lnc-HOTTIP genes was significantly increased in the GBM group.
Lnc-UCC expression showed significant positive correlations with MYBL2 and lnc-HOTTIP expression levels. Further investigation into these genes and their regulatory mechanisms is need.
本研究旨在利用生物信息学方法验证多形性胶质母细胞瘤(GBM)中芳香烃受体(AHR)和RELA共同基因的实验基因表达水平。研究人员分析了RNAseq数据以确定差异表达基因(DEGs),并通过RNA相互作用组数据库确定了与成立基因调控相关的LncRNAs。结果显示,MYBL2是AHR和RELA的共同调控因子,在GBM组中,MYBL2、lnc-UCC和lnc-HOTTIP基因的表达显著增加。这些基因及其调控机制有待进一步研究。
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引用次数: 0
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Gene Reports
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