Genetic epigenesis

  • 文章类型: Journal Article
    UNASSIGNED:第2位和第4位长度的比率(2D:4D)被认为是性二态特征。低2D:4D与酒精依赖和海洛因依赖有关,并与攻击性等心理特征相关。身体上的侵略,和感觉。这项研究的目的是比较甲基苯丙胺(METH)依赖性和对照之间的2D:4D以及作为METH依赖性的潜在生物标志物的2D:4D比率。
    未经批准:在这项研究中,在Eulji大学江南Eulji医院诊断为METH依赖的40例患者和50名健康志愿者均在同一医院工作。使用扫描设备创建参与者的手的图像。图像包含右手和左手;使用计算机软件测量双手的2D:4D比率。我们比较了比率,通过t检验分析,METH依赖组与对照组之间。
    UNASSIGNED:METH依赖患者的平均2D:4D值分别为0.941(右手)和0.943(左手);相反,对照组为0.961(右手)和0.961(左手)。这些值显著小于对照组患者的右手(p=0.003)和左手(p=0.012)。
    UNASSIGNED:METH依赖患者的2D:4D比率小于对照组,这与以前的物质使用障碍研究的结果相似。因此,性腺期产前睾酮水平升高可能与未来的METH问题有关.此外,2D:4D比率是预测METH依赖性的潜在标记。
    UNASSIGNED: The ratio of 2nd and 4th digit length (2D:4D) is considered to be a sexually dimorphic trait. Low 2D:4D is implicated in alcohol dependence and heroin dependence and correlated with psychological traits such as aggression, physical aggression, and sensation. The purpose of this study is to compare the 2D:4D between methamphetamine (METH) dependence and controls and the 2D:4D ratio that is a potential biomarker for METH dependence.
    UNASSIGNED: In this study, 40 patients diagnosed with METH dependence in Eulji University Gangnam Eulji Hospital and 50 healthy volunteers were all employees in the same hospital. Images of participants\' hands were created using a scanning device. The images contained both the right and left hands; computer software was used to measure the 2D:4D ratio for both hands. We compared the ratios, analyzed by t test, between the METH dependence group and the control group.
    UNASSIGNED: The mean 2D:4D values were 0.941 (right hand) and 0.943 (left hand) for the patients with METH dependence; in contrast, they were 0.961 (right hand) and 0.961 (left hand) for the control group. These values were significantly smaller than the control in patients\' right hands (p = 0.003) and left hands (p = 0.012).
    UNASSIGNED: Patients with METH dependence had smaller 2D:4D ratios than those in the control group, which is similar to the results from the previous substance use disorder studies. Thus, elevated prenatal testosterone levels during the gonadal period could be related to future METH problems. Furthermore, the 2D:4D ratio is a potential marker for the prediction of METH dependence.
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  • 文章类型: Journal Article
    Systemic sclerosis (SSc) is a chronic progressive autoimmune disease characterized by immune inflammation, vasculopathy, and fibrosis. There are still numerous uncertainties in the understanding of disease initiation and progression. Pulmonary involvement in SSc, and particularly pulmonary fibrosis, is critical for all organ systems affections in this disease. This review is aimed to describe and analyze new findings in the pathophysiology of SSc-associated pulmonary involvement and to explore perspective diagnostic and therapeutic strategies. A myriad of cellular interactions is explored in the dynamics of progressive interstitial lung disease (ILD) and pulmonary hypertension (PH) in SSc. The role of exosomes, microvesicles, and apoptotic bodies is examined and the impact of micro and long non-coding RNAs, DNA methylation, and histone modification in SSc is discussed.
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  • 文章类型: Journal Article
    人类印记障碍引起一系列畸形和神经认知表型,它们可能会避开传统的分子诊断,如外显子组测序。与印迹基因相关的新型疾病的发现落后于传统的孟德尔障碍,因为目前的诊断技术,尤其是无偏见的测试,在他们的发现中具有有限的效用。为了识别新的印记障碍,我们回顾了每个假设被印记的人类基因的数据,确定每个小鼠的直系同源,确定了它在鼠标中的印记状态,并分析了其在人类和小鼠中的功能。我们确定了17个基因在人类和小鼠中都有印记,并且在小鼠或人类中的功能数据表明表达失调会导致人类的异常表型。这17个基因,连同已知的印记基因,优先标记538个临床外显子组测序测试。鉴定的基因是:DIRAS3[1p31.3],TP73[1p36.32],SLC22A3[6q25.3],GRB10[7p12.1],DDC[7p12.2],MAGI2[7q21.11],PEG10[7q21.3],PPP1R9A[7q21.3],CALCR[7q21.3],DLGAP2[8p23.3],GLIS3[9p24.2],INPP5F[10q26.11],ANO1[11q13.3],SLC38A4[12q13.11],GATM[15q21.1],PEG3[19q13.43],和NLRP2[19q13.42]。在538例临床病例中,8例(1.7%)报告了已知印记基因的变异。印迹基因中有367/758个变异(48.4%)不知道会引起疾病,但这些变异均不符合临床报告标准.印记障碍在人类疾病中起着重要作用,和其他人类印记疾病仍有待发现。因此,进化保守是一个潜在的工具,用于鉴定与人类印记障碍有关的新基因,并在临床试验中进行鉴定。
    Human imprinting disorders cause a range of dysmorphic and neurocognitive phenotypes, and they may elude traditional molecular diagnosis such exome sequencing. The discovery of novel disorders related to imprinted genes has lagged behind traditional Mendelian disorders because current diagnostic technology, especially unbiased testing, has limited utility in their discovery. To identify novel imprinting disorders, we reviewed data for every human gene hypothesized to be imprinted, identified each mouse ortholog, determined its imprinting status in the mouse, and analyzed its function in humans and mice. We identified 17 human genes that are imprinted in both humans and mice, and have functional data in mice or humans to suggest that dysregulated expression would lead to an abnormal phenotype in humans. These 17 genes, along with known imprinted genes, were preferentially flagged 538 clinical exome sequencing tests. The identified genes were: DIRAS3 [1p31.3], TP73 [1p36.32], SLC22A3 [6q25.3], GRB10 [7p12.1], DDC [7p12.2], MAGI2 [7q21.11], PEG10 [7q21.3], PPP1R9A [7q21.3], CALCR [7q21.3], DLGAP2 [8p23.3], GLIS3 [9p24.2], INPP5F [10q26.11], ANO1 [11q13.3], SLC38A4 [12q13.11], GATM [15q21.1], PEG3 [19q13.43], and NLRP2 [19q13.42]. In the 538 clinical cases, eight cases (1.7%) reported variants in a causative known imprinted gene. There were 367/758 variants (48.4%) in imprinted genes that were not known to cause disease, but none of those variants met the criteria for clinical reporting. Imprinted disorders play a significant role in human disease, and additional human imprinted disorders remain to be discovered. Therefore, evolutionary conservation is a potential tool to identify novel genes involved in human imprinting disorders and to identify them in clinical testing.
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  • 文章类型: Journal Article
    目的:第2位与第4位长度的比率(2D:4D)是性二态特征。男性的第二位数字比第四位数字短。该比率被认为受到较高的产前睾酮水平或对雄激素的较高敏感性的影响。这项研究的目的是调查韩国样本中酒精依赖与2D:4D之间的关系,以及2D:4D是否可以成为酒精依赖的生物学标记。
    方法:在本研究中,我们从一家精神病医院的酒精中心招募了87名男性酒精依赖患者,并招募了52名健康男性志愿者,他们都是同一家医院的雇员,作为对照组.我们使用扫描仪捕获了患者和控件的右手和左手的图像,并使用图形程序提取了数据。我们测量了每只手的2D:4D,并将酒精依赖组与对照组进行了比较。我们使用独立样本t检验分析了这些比率。
    结果:患者的平均2D:4D为0.934(右手)和0.942(左手),而对照组的平均2D:4D为0.956(右手)和0.958(左手)。患者的双手值显着低于对照组(右手p<0.001;左手p=0.004)。
    结论:酒精依赖患者的2D:4D明显低于对照组,类似于以前的研究结果,这表明在性腺期较高的产前睾丸激素水平与酒精中毒有关。此外,2D:4D是酒精依赖的可能的预测标记。
    OBJECTIVE: The ratio of 2nd to 4th digit length (2D:4D) is a sexually dimorphic trait. Men have a relatively shorter second digit than fourth digit. This ratio is thought to be influenced by higher prenatal testosterone level or greater sensitivity to androgen. The purpose of this study is to investigate the relationship between alcohol dependence and 2D:4D in a Korean sample and whether 2D:4D can be a biologic marker in alcohol dependence.
    METHODS: In this study, we recruited 87 male patients with alcohol dependence from the alcohol center of one psychiatric hospital and 52 healthy male volunteers who were all employees in the same hospital as controls. We captured images of the right and left hands of patients and controls using a scanner and extracted data with a graphics program. We measured the 2D:4D of each hand and compared the alcohol dependence group with the control group. We analyzed these ratios using an independent-samples t-test.
    RESULTS: The mean 2D:4D of patients was 0.934 (right hand) and 0.942 (left hand), while the mean 2D:4D of controls was 0.956 (right hand) and 0.958 (left hand). Values for both hands were significantly lower for patients than controls (p<0.001, right hand; p=0.004, left hand).
    CONCLUSIONS: Patients who are alcohol dependent have a significantly lower 2D:4D than controls, similar to the results of previous studies, which suggest that a higher prenatal testosterone level in the gonadal period is related to alcoholism. Furthermore, 2D:4D is a possible predictive marker of alcohol dependence.
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