{"title":"TGF-β1序列信号基因变异在1型糖尿病、糖尿病性神经病变和血脂调节中的暗示作用","authors":"Esma Mihoubi, Faiza Bouldjennet, Habiba Amroun, Malha Azzouz, Chafia Touil-Boukoffa, Rachida Raache","doi":"10.1007/s10528-025-11240-x","DOIUrl":null,"url":null,"abstract":"<p><p>Type 1 diabetes mellitus (T1DM) and its associated complications result from the interplay between genetic and environmental factors, with inflammation playing a central role in their pathogenesis. This study aimed to assess the association between TGF-β1 gene variants and T1DM, as well as its neuropathy, in the Algerian population. A case-control study was conducted, analyzing 344 blood samples. The TGF-β1 rs1800470 and rs1800471 were genotyped using the PCR-SSP method. Genotype and allele frequencies were compared among participants, and phenotype-genotype interactions were determined.The results revealed that the TGF-β1 rs1800470 CC genotype was significantly more frequent in patients (OR = 2.08, p = 0.016), while the GC genotype was significantly more frequent in controls (OR = 0.49, p = 0.001). The C allele (OR = 2.97, p < 0.0001) and the GC genotype (OR = 2.93, p = 0.0003) of the TGF-β1 rs1800471 were significantly more frequent in T1DM patients, while the G allele (OR = 0.34, p < 0.0001) and GG genotype (OR = 0.32, p < 0.0001) were more frequent in controls. Furthermore, the GG genotype of rs1800471 was associated with diabetic neuropathy (OR = 3.30, p = 0.03), and carrying at least one copy of the minor C allele was linked to higher levels of total cholesterol (p = 0.0096) and triglycerides (p = 0.001). Based on these data, we suggest an association between the TGF-β1 variants rs1800470 and rs1800471 and susceptibility to T1DM. Furthermore, the rs1800471 variant may be involved in the development of diabetic neuropathy with a possible impact on lipid profiles.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6000,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Suggestive Contribution of Sequence Signal Gene Variants of TGF-β1 in Development of Type 1 Diabetes, Diabetic Neuropathy, and Modulation of Lipid Profile.\",\"authors\":\"Esma Mihoubi, Faiza Bouldjennet, Habiba Amroun, Malha Azzouz, Chafia Touil-Boukoffa, Rachida Raache\",\"doi\":\"10.1007/s10528-025-11240-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Type 1 diabetes mellitus (T1DM) and its associated complications result from the interplay between genetic and environmental factors, with inflammation playing a central role in their pathogenesis. This study aimed to assess the association between TGF-β1 gene variants and T1DM, as well as its neuropathy, in the Algerian population. A case-control study was conducted, analyzing 344 blood samples. The TGF-β1 rs1800470 and rs1800471 were genotyped using the PCR-SSP method. Genotype and allele frequencies were compared among participants, and phenotype-genotype interactions were determined.The results revealed that the TGF-β1 rs1800470 CC genotype was significantly more frequent in patients (OR = 2.08, p = 0.016), while the GC genotype was significantly more frequent in controls (OR = 0.49, p = 0.001). The C allele (OR = 2.97, p < 0.0001) and the GC genotype (OR = 2.93, p = 0.0003) of the TGF-β1 rs1800471 were significantly more frequent in T1DM patients, while the G allele (OR = 0.34, p < 0.0001) and GG genotype (OR = 0.32, p < 0.0001) were more frequent in controls. Furthermore, the GG genotype of rs1800471 was associated with diabetic neuropathy (OR = 3.30, p = 0.03), and carrying at least one copy of the minor C allele was linked to higher levels of total cholesterol (p = 0.0096) and triglycerides (p = 0.001). Based on these data, we suggest an association between the TGF-β1 variants rs1800470 and rs1800471 and susceptibility to T1DM. 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引用次数: 0
摘要
1型糖尿病(T1DM)及其相关并发症是遗传和环境因素共同作用的结果,炎症在其发病机制中起核心作用。本研究旨在评估阿尔及利亚人群中TGF-β1基因变异与T1DM及其神经病变之间的关系。进行了病例对照研究,分析了344份血样。采用PCR-SSP方法对TGF-β1 rs1800470和rs1800471进行基因分型。比较参与者的基因型和等位基因频率,并确定表型-基因型相互作用。结果显示,TGF-β1 rs1800470 CC基因型在患者中更为常见(OR = 2.08, p = 0.016),而GC基因型在对照组中更为常见(OR = 0.49, p = 0.001)。C等位基因(OR = 2.97, p
Suggestive Contribution of Sequence Signal Gene Variants of TGF-β1 in Development of Type 1 Diabetes, Diabetic Neuropathy, and Modulation of Lipid Profile.
Type 1 diabetes mellitus (T1DM) and its associated complications result from the interplay between genetic and environmental factors, with inflammation playing a central role in their pathogenesis. This study aimed to assess the association between TGF-β1 gene variants and T1DM, as well as its neuropathy, in the Algerian population. A case-control study was conducted, analyzing 344 blood samples. The TGF-β1 rs1800470 and rs1800471 were genotyped using the PCR-SSP method. Genotype and allele frequencies were compared among participants, and phenotype-genotype interactions were determined.The results revealed that the TGF-β1 rs1800470 CC genotype was significantly more frequent in patients (OR = 2.08, p = 0.016), while the GC genotype was significantly more frequent in controls (OR = 0.49, p = 0.001). The C allele (OR = 2.97, p < 0.0001) and the GC genotype (OR = 2.93, p = 0.0003) of the TGF-β1 rs1800471 were significantly more frequent in T1DM patients, while the G allele (OR = 0.34, p < 0.0001) and GG genotype (OR = 0.32, p < 0.0001) were more frequent in controls. Furthermore, the GG genotype of rs1800471 was associated with diabetic neuropathy (OR = 3.30, p = 0.03), and carrying at least one copy of the minor C allele was linked to higher levels of total cholesterol (p = 0.0096) and triglycerides (p = 0.001). Based on these data, we suggest an association between the TGF-β1 variants rs1800470 and rs1800471 and susceptibility to T1DM. Furthermore, the rs1800471 variant may be involved in the development of diabetic neuropathy with a possible impact on lipid profiles.
期刊介绍:
Biochemical Genetics welcomes original manuscripts that address and test clear scientific hypotheses, are directed to a broad scientific audience, and clearly contribute to the advancement of the field through the use of sound sampling or experimental design, reliable analytical methodologies and robust statistical analyses.
Although studies focusing on particular regions and target organisms are welcome, it is not the journal’s goal to publish essentially descriptive studies that provide results with narrow applicability, or are based on very small samples or pseudoreplication.
Rather, Biochemical Genetics welcomes review articles that go beyond summarizing previous publications and create added value through the systematic analysis and critique of the current state of knowledge or by conducting meta-analyses.
Methodological articles are also within the scope of Biological Genetics, particularly when new laboratory techniques or computational approaches are fully described and thoroughly compared with the existing benchmark methods.
Biochemical Genetics welcomes articles on the following topics: Genomics; Proteomics; Population genetics; Phylogenetics; Metagenomics; Microbial genetics; Genetics and evolution of wild and cultivated plants; Animal genetics and evolution; Human genetics and evolution; Genetic disorders; Genetic markers of diseases; Gene technology and therapy; Experimental and analytical methods; Statistical and computational methods.