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http://dspace.utpl.edu.ec/handle/123456789/2207| Title: | Evaluacion de las variantes: t130i del gen hnf4α, g319s y g574s del gen hnf1α en personas de la etnia saraguro – ecuador. |
| Authors: | Arévalo Jaramillo, Ana Paulina Tamayo Guamán, Andrea Karina |
| Keywords: | SNP Transcription factors HNF1a HNF4a DT2 HDL |
| Issue Date: | 23-Feb-2012 |
| Description: | Transcription factors play an important role in regulating gene expression; HNF1α and HNF4α belong to this super family. Diverse polymorphisms have been reported for these transcription factors associated with different clinical conditions. G319S and G574S variants of HNF1α have been associated with diabetes, low insulin levels and changes in BMI. The T130I variant of HNF4α is associated with DT2 and low HDL levels. The objective of this project was to identify the presence and frequency of the polymorphisms G319S, G574S and T130I in the indigenous population of Ecuador, and relate these variants with biochemical and anthropometric parameters for this purpose, we determined the presence of these genetic variants in a group of 103 subjects of Saraguro population from Ecuador. We found T130I variant in our population with a frequency of 35.9%. The HNF4a T130I variant showed association with low HDL levels in people of the Sierra region (p=0.007), this association was not maintained in the general population. The decrease in HDL levels only for this region could be due to the characteristic polygenic and multifactorial of HDL phenotype. G319S and G574S polymorphisms in the Saraguro population are absent, probably is due to the origin of this Ecuador indigenous group. |
| URI: | http://dspace.utpl.edu.ec/handle/123456789/2207 |
| Appears in Collections: | Bioquímico Farmacéutico |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| UTPL_Tamayo_Guamán_Andrea_Karina_1030330.pdf | 640.28 kB | Adobe PDF | View/Open |
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