Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011860 (type 2 diabetes)
 57,723 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Upstream transcription factor 1 (USF1), the first gene associated with familial combined hyperlipidemia (FCHL), regulates numerous genes of glucose and lipid metabolism. Phenotypic overlap between FCHL, type 2 diabetes and the metabolic syndrome makes this gene an intriguing candidate in the disease process of these traits as well. As no disease-associated mutations in the coding region of USF1 have been identified, we addressed the functional role of intronic single nucleotide polymorphisms (SNPs) which define the FCHL-risk alleles of USF1, and identified that a 20 bp DNA sequence, containing the critical intronic SNP, binds nuclear protein(s), representing a likely transcriptional regulatory element. This functional role is further supported by the differential expression of USF1-regulated genes in fat biopsy between individuals carrying different allelic variants of USF1. Importantly, apolipoprotein E (APOE) is the most downregulated gene in the risk individuals, linking the potential risk alleles of USF1 with the impaired APOE-dependent catabolism of atherogenic lipoprotein particles.
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PMID:USF1 and dyslipidemias: converging evidence for a functional intronic variant. 1607 49

Upstream transcription factor 1 (USF1) is a ubiquitously expressed transcription factor of the basic helix-loop-helix leucine zipper family that has been shown to regulate the expression of a raft of key genes involved in glucose and lipid metabolism. The USF1 gene is located at chromosome 1q22-q23, within the most consistently replicated type 2 diabetes susceptibility locus in the human genome. In this study, we have examined the contribution of eight common USF1 single nucleotide polymorphisms (SNPs) to type 2 diabetes susceptibility in the French Caucasian population. None of the USF1 SNPs genotyped, including two SNPs previously associated with familial combined hyperlipidemia (rs2073658 and rs3737787), showed evidence of association with type 2 diabetes. In addition, USF1 SNPs were not associated with plasma levels of glucose, triglycerides, total cholesterol, or apolipoproteins A1 or B in normoglycemic subjects. A total of four common USF1 haplotypes were identified, accounting for >99% of chromosomes. There was no significant difference in the USF1 haplotype distribution of the case and control subjects. In conclusion, we report here that we were unable to find any evidence to support the hypothesis that genetic variation in the USF1 gene makes a significant contribution to type 2 diabetes susceptibility in the French Caucasian population.
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PMID:Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians. 1618 12

Upstream transcription factor 1 (USF1) is capable of controlling various members in glucose and lipid metabolism pathways. Much evidence suggests that the rs3737787 polymorphism in the USF1 gene may lead to alteration of lipid metabolism. The objective of this study was to test the association between rs3737787 and type 2 diabetes mellitus (T2DM) and its related lipid metabolic traits in the Chinese population. A total of 287 eligible T2DM families were chosen in Beijing. A set of questionnaires was administered to obtain information on demographic characteristics. Physical measurements were recorded. DNA was extracted from blood samples and genotyped using PCR-RFLP method. Statistical analyses including linkage analysis and family-based association test were performed to detect the relationship between rs3737787 and T2DM related traits. In the non-parametric linkage analysis, it was observed that rs3737787 is potentially linked with triglyceride and apolipoprotein E levels, where the logarithm of the odds scores were 0.87 (p=0.02) and 1.96 (p=0.001), respectively. Similar results were obtained in the multi-factorial generalized estimating equation analysis. Using different statistical approaches, in this study, we have confirmed that the single nucleotide polymorphism rs3737787 is related to triglyceride and apolipoprotein E levels in type 2 diabetes mellitus families.
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PMID:A Common Polymorphism of Upstream Transcription Factor 1 Gene is associated with Lipid Profile: A Study in Chinese Type 2 Diabetes Families. 2367 52