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Single nucleotide polymorphisms within functional regions of genes implicated in insulin action and association with the insulin resistant phenotype

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Abstract

Type 2 diabetes and insulin resistance (IR) are characterized by severe anomalies in genes expression rate including genes involved in insulin signal transduction. Post-transcriptional regulation of gene expression is crucial for many physiological processes and is mediated mainly by untranslated region (UTR). Present study concentrated on the search for correlation between single nucleotides polymorphisms in UTRs of the INSR, PIK3R1, PTPN1, and SLC2A4 genes and IR. 130 unrelated diabetic patients and 98 healthy controls were analyzed in present study. Genotyping was performed by multiplex minisequencing preceded by multiplex PCR. Two single nucleotide polymorphisms (SNPs) showed significant differences in genotype frequencies between analyzed groups. Statistical significance was received for rs3745551 located in 3′-UTR of the INSR and rs3756668 located in 3′-UTR of the PIK3R1 gene with higher number of G/G genotype in insulin resistant subjects. Furthermore, patients carrying G/G genotype of those SNPs displayed higher BMI value, higher fasting glucose and insulin levels and were more insulin resistant assessed by HOMA-IR and QUICKI. Present study provides evidence for association between SNPs in UTRs of the INSR and PIK3R1 genes and insulin resistant phenotype.

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Acknowledgments

This project was supported by Ministry of Science and Higher Education of Poland, Grant No: N N401 009436.

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Authors and Affiliations

  1. Molecular Technique Unit, Department of Forensic Medicine, Silesian Piast Medical University, Sklodowskiej-Curie 52, 50-369, Wrocław, Poland

    Malgorzata Malodobra

  2. Department and Unit of Forensic Medicine, Silesian Piast Medical University, Mikulicza-Radeckiego 4, 50-368, Wrocław, Poland

    Agnieszka Pilecka

  3. Department of Normal Anatomy, Silesian Piast Medical University, Chalubinskiego 6a, 50-368, Wrocław, Poland

    Bohdan Gworys

  4. Department of Angiology, Hypertension and Diabetology, Silesian Piast Medical University, Borowska 213, 50-556, Wrocław, Poland

    Rajmund Adamiec

Authors
  1. Malgorzata Malodobra
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  2. Agnieszka Pilecka
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  3. Bohdan Gworys
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  4. Rajmund Adamiec
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Correspondence to Malgorzata Malodobra.

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Malodobra, M., Pilecka, A., Gworys, B. et al. Single nucleotide polymorphisms within functional regions of genes implicated in insulin action and association with the insulin resistant phenotype. Mol Cell Biochem 349, 187–193 (2011). https://doi.org/10.1007/s11010-010-0673-5

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  • DOI: https://doi.org/10.1007/s11010-010-0673-5

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