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第45卷第10期          任 钰,李超普,张 许,等. 肥胖相关基因Stambpl1的生物信息学筛选及其对脂代谢影响
                 2025年10月            的初步探究[J]. 南京医科大学学报(自然科学版),2025,45(10):1417-1426,1466               ·1421 ·


                       A          GSE37218               GSE30247         B
                                                  10
                           6
                                                                              GSE37218  GSE30247
                           5                       8
                           4
                          P                       P  6
                          -lg  3                  -lg  4                       72    57     378
                           2
                                                   2
                           1
                           0                       0
                              -4 -2  0  2   4         -4  -2  0  2  4
                                   log2FC                  log2FC
                        C                Heterotypic cell⁃cell adhesion                   3
                                             Inflammatory response                        6
                                          Mitotic spindle organization                   4
                               Negative regulation of macrophage migration              2
                            Positive regulation of leukocyte cell⁃cell adhesion       3
                                     Positive regulation of cell migration           6
                                          Actin⁃based cell projection                    4
                                                    Microvillus                     3
                                Extracellular membrane⁃bounded organelle            3
                                               Extracellular vesicle               3
                                          Tertiary granule membrane               3
                                            Chemoattractant activity                     3     Biological process
                                                                                               Cellular component
                                           Cytokine receptor activity            3             Molecular function
                                               Chemokine binding               2
                                                            0      1      2       3      4
                                                                         -lg P
                  D                 MGI mammalian phenotype level                    Human phenotype level
                        Increased susceptibility to bacterial infection                          Leukocytosis
                                     Increased interleukin⁃10 secretion
                                                                                             Abnormality of eosinophils
                                     Abnormal osteoclast differentiation
                                                                                 Follicular hyperkeratosis
                                     Abnormal cellular extravasation
                                                                                 Nephrotic syndrome
                                     Decreased CD4⁃positive,alpha⁃beta T cell number
                                                                                 Type 1 muscle fiber predominance
                                  Abnormal neutrophil physiology
                                                                                 Slender build
                                  Abnormal leukocyte adhesion                   Ankle contracture
                                 No abnormal phenotype detected
                    Enriched pathways  Decreased susceptibility to experimental  Enriched pathways  Slow progression
                                                                                Recurrent gram⁃negative bacterial infections
                                Abnormal response to cardiac infarction
                            Decreased T cell proliferation
                                                                                Severe combined immunodeficiency
                            Decreased germinal center B cell number
                                                                                Joint hemorrhage
                          Abnormal CD4⁃positive,alpha⁃beta T cell physiology
                                                                               Hemiplegia
                         Autoimmune encephalomyelitis
                         Decreased CD8⁃positive,alpha⁃beta T cell number
                                                                               Combined immunodeficiency
                         Decreased spleen germinal center size                 Tubular atrophy
                                                                               Periodontitis
                         Decreased interleukin⁃6 secretion
                                                                               Increased variability in muscle fiber diameter
                         Increased NK T cell number
                                                                              Abnormality of the vocal cords
                         Increased acute inflammation
                                                                              Mildly elevated creatine phosphokinase
                         Decreased skeletal muscle weight
                                                                              T lymphocytopenia
                        Decreased acute inflammation                          Eosinophilia
                          1.5      2.0     2.5       3.0     3.5                   2.0        3.0        4.0
                                        Enrichment score(-lg P)                       Enrichment score(-lg P)
                   A:Gene volcano map after differential analysis of GSE37218 and GSE30247 using GEO2R. B:Venn diagram of up⁃regulated genes in GSE37218
                and GSE30247(P < 0.05,log2FC > 1.5). C:GO enrichment map of common differentially expressed genes in GSE37218 and GSE30247. The numbers
                adjacent to the bars denote the count of genes enriched in the corresponding GO terms. D:Enrichment analysis of mouse and human phenotypes of
                common differentially expressed genes in GSE37218 and GSE30247.
                                              图1 差异基因的筛选及功能表型的富集分析
                        Figure 1  Screening of differentially expressed genes and enrichment analysis of functional phenotypes
                                                                  需要利用可靠且具有临床相关性的实验模型                       [17] 。
                3 讨    论
                                                                  C57BL/6J小鼠常被用于研究食物诱发的肥胖症、糖
                    肥胖已成为严重威胁人类健康的问题,而脂肪                          尿病和动脉粥样硬化等代谢性疾病                 [18] 。因此,本研
                组织在机体能量代谢中发挥着至关重要的作用                      [16] 。  究在前期选取了 HFD 诱导的 C57BL/6J 小鼠 eWAT
                生物信息学的应用为深入探究肥胖症的发病机制、                            测序数据来研究肥胖症发生过程中的潜在分子机
                寻找潜在治疗靶点提供了有力工具。                                  制。GEO数据库是一个国际公共资源库,目前已接
                    为了解肥胖相关代谢性疾病发生的分子机制,                          受来自各种技术的研究数据,包括 DNA 微阵列、蛋
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