Polymorphisms in the RAC1 Gene Are Associated With Hypertension Risk Factors in a Chilean Pediatric Population
link https://doi.org/10.1093/ajh/hpt277account_box Tapia Castillo, Alejandraaccount_box Carvajal, Cristian A.account_box Campino, Carmenaccount_box Vecchiola, Andreaaccount_box Allende, Fidelaccount_box Solari, Sandraaccount_box Garcia, Lorenaaccount_box Lavanderos, Sergioaccount_box Valdivia, Carolinaaccount_box Fuentes, Cristobalaccount_box Lagos, Carlos F.account_box Martinez Aguayo, Alejandroaccount_box Baudrand, Reneaccount_box Aglony, Marleneaccount_box Garcia, Hernanaccount_box Fardella, Carlos E.
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The GTPase Rac1 has been implicated in hypertension as a modulator of mineralocorticoid receptor activity. Our aim is to investigate the frequency of polymorphisms rs10951982 (intron 1, G > A) and rs836478 (intron 3, T > C) in the RAC1 gene and perform association studies with clinical and biochemical parameters in a Chilean pediatric cohort.
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| Autor | Tapia Castillo, Alejandra Carvajal, Cristian A. Campino, Carmen Vecchiola, Andrea Allende, Fidel Solari, Sandra Garcia, Lorena Lavanderos, Sergio Valdivia, Carolina Fuentes, Cristobal Lagos, Carlos F. Martinez Aguayo, Alejandro Baudrand, Rene Aglony, Marlene Garcia, Hernan Fardella, Carlos E. |
| Título | Polymorphisms in the RAC1 Gene Are Associated With Hypertension Risk Factors in a Chilean Pediatric Population |
| Revista | American Journal of Hypertension |
| ISSN | 0895-7061 |
| ISSN electrónico | 1941-7225 |
| Volumen | 27 |
| Número de publicación | 3 |
| Página inicio | 299 |
| Página final | 307 |
| Fecha de publicación | 2014 |
| Resumen | The GTPase Rac1 has been implicated in hypertension as a modulator of mineralocorticoid receptor activity. Our aim is to investigate the frequency of polymorphisms rs10951982 (intron 1, G > A) and rs836478 (intron 3, T > C) in the RAC1 gene and perform association studies with clinical and biochemical parameters in a Chilean pediatric cohort. Two hundred two normotensive (NT) subjects (aged 416 years) were divided into 2 groups: NT subjects with hypertensive parents (NH; n 103) and NT subjects with NT parents (NN; n 99). We measured markers of inflammation (high-sensitivity C-reactive protein, interleukin 6 (IL-6), interleukin 8, and tumor necrosis factor ), endothelial damage (Plasminogen activator inhibitor-1 metalloproteinase-9, and metalloproteinase-2), and oxidative stress (malondialdehyde). Data were expressed as median and interquartile range (IQR). We found differences in polymorphism rs836478 (intron 3, C > T) in both genotypic ((2) 15.2, 2df; P 0.0005) and allelic (X(2)5.5, 1df; P 0.01) frequencies in NH vs. NN subjects. NH subjects with a TT genotype showed increase MMP9 expression (median 2.3, IQR - 1.63.2; vs. median 1.6, IQR 1.62.3 AU; P 0.01) and lower IL-6 expression (median 8.8, IQR 7.011.8; vs. median 12.1, IQR 8.214.7 pg/ml; P 0.02) compared with subjects with TC/CC genotype. No difference in the allelic frequency distribution was seen in the polymorphism rs10951982 (NH vs. NN: (2)0.2, 1df; P 0.6). For this SNP, NN subjects with GA/AA genotype showed decreased diastolic BP indexes compared with subjects with native GG genotype (median 1.08, IQR 1.01.2; vs. median 0.99, IQR 0.941.1; P 0.02). We report the frequency of polymorphisms rs836478 and rs10951982 of the RAC1 gene in a Spanish-Amerindian cohort. The polymorphism rs836478 was associated with an increased expression in markers of inflammation and endothelial damage (MMP9 and IL-6) in pediatric subjects with a hypertensive genetic background. |
| Derechos | acceso restringido |
| DOI | 10.1093/ajh/hpt277 |
| Editorial | OXFORD UNIV PRESS |
| Enlace | |
| Id de publicación en WoS | WOS:000331842300004 |
| Paginación | 9 páginas |
| Tema ODS | 03 Good health and well-being |
| Tema ODS español | 03 Salud y bienestar |
| Temática | Medicina y salud |
| Tipo de documento | artículo |