Genes y variantes polimórficas asociadas a la enfermedad cardiovascular

ResumenLa aterosclerosis se considera como la principal causante de enfermedades cardiovasculares. Es una enfermedad multifactorial, caracterizada por procesos inflamatorios y la internalización continua de moléculas lipídicas al interior del vaso. Los estudios de genes candidato han proporcionado conocimiento acerca de la fisiopatología de esta enfermedad y han permitido la postulación de algunos polimorfismos como responsables de la susceptibilidad genética en diversas poblaciones. En particular, estos polimorfismos que modulan ciertas vías moleculares tales como el estrés oxidativo, el metabolismo lipídico y la trombogénesis se asocian con el desarrollo de las enfermedades cardiovasculares. Se han conducido varios estudios para identificar nuevas variantes asociadas con la enfermedad que han permitido el descubrimiento de nuevas vías de la enfermedad. Aunque el hallazgo de nuevos genes asociados a la enfermedad cardiovascular a través de enfoques como el escaneo global del genoma ha contribuido al entendimiento del desarrollo de esta condición, el conocimiento aún es limitado y poco concluyente. El objetivo de esta revisión es identificar los genes y las variantes polimórficas asociadas a la enfermedad cardiovascular, de acuerdo con los diferentes enfoques de análisis de asociación genética.AbstractAtherosclerosis is considered the main cause of cardiovascular diseases. This is a multifactorial disease, characterized by inflammatory processes and the continuous internalization of lipid molecules into the blood vessel. Candidate gene studies have provided knowledge on the pathophysiology of this disease and have allowed postulating some polymorphisms as responsible for the genetic susceptibility in several populations. In particular, these polymorphisms that modulate certain molecular pathways such as oxidative stress, lipid metabolism and thrombogenesis are associated to the development of cardiovascular diseases. Several studies have been used to identify new variants associated with the disease enabling the discovery of new disease pathways. Although the discovery of novel genes associated with cardiovascular disease through approaches such as global scan of the genome has contributed to understanding the development of this disease, knowledge is still limited and inconclusive. The aim of this review is to identify genes and polymorphic variants associated with cardiovascular disease, according to the different approaches of genetic association analysis

Vigor hibrido y habilidad combinatoria en variedades comerciales y líneas de arroz (oryza sativa l.) de colombia

Entre las variedades Cica-4, Cica-7, Oryzica-1, Oryzica-2 y las líneas experimentales 17396 y 11744, se realizó un cruzamiento dialélico, sin sus recíprocos. El diseño empleado fue bloques al azar con cuatro repeticiones. Una planta por sitio se trasplantó a los 29 y 30 días en parcelas de tres metros de longitud y 90 centímetros de ancho, con un total de 60 plantas. La distancia desiembra fue de 30x20 cm. El mayor valor heterótico respecto al promedio y mejor parental en rendimiento se presentaron en el híbridoOryzica-2 x Cica- 4 (144.12 Y 139.42 %), el cual rindió 8_5 t/ha. La heterosis para rendimiento fue mayor que la de sus componentes. El índice de área foliar y número de granos por panícula contribuyeron positiva y significativamente en el rendimiento de los híbridos; mientras que tallos efectivos por planta es el contribuyente principal en el rendimiento de los padres. En la variación entre genotipos para rendimiento, eso y número de granos por panicula participaron efectos de HCE y para peso de 1000 granos y tallos efectivos participaron efectos de HCG. La heterosis en rendimiento, granos por panícula y peso de 1000 granos se asociaron con efectos de HCE.A diallel cross without their reciprocals was made between varieties Cica-4, Cica- 7, Oryzica-l, Oryzica-2 and the experimental lines 17396 and 11744. The experimental design was the randomized block with four replications. A plant per site was transplanted at the 29-30 days in 3 meters by 90 centimeters plots with a total of 60 plants. The planting distances were 30 cm x 20 cm. The higher heterotic value with respect to the mid-parent and the better parent for yield was shOlM1by the hybrid Oryzica- 2 x Cica-4 (144.12 % and 139.42 olo), which yielded 8_5 t/ha. The heterosis for yield was greater thouse of there components. Leaf index and number of grains per panicle contribute positive and significantly at the yield of the hybrids while effective tillers per plant were the main contribute at the parents yield. In the variation between genotypes for yield, weight and number of grains per panicle sea effects participated and for weight 1000 grains and effective tillers gca effects participated The heterosis for yield, grains per panicle and weight 1000 grains showea association with sea effects

The GALEX/S4G UV-IR color-color diagram: Catching spiral galaxies away from the Blue Sequence

We obtained GALEX FUV, NUV, and Spitzer/IRAC 3.6$\mu$m photometry for > 2000 galaxies, available for 90% of the S4G sample. We find a very tight "GALEX Blue Sequence (GBS)" in the (FUV-NUV) versus (NUV-[3.6]) color-color diagram which is populated by irregular and spiral galaxies, and is mainly driven by changes in the formation timescale ($\tau$) and a degeneracy between $\tau$ and dust reddening. The tightness of the GBS provides an unprecedented way of identifying star-forming galaxies and objects that are just evolving to (or from) what we call the "GALEX Green Valley (GGV)". At the red end of the GBS, at (NUV-[3.6]) > 5, we find a wider "GALEX Red Sequence (GRS)" mostly populated by E/S0 galaxies that has a perpendicular slope to that of the GBS and of the optical red sequence. We find no such dichotomy in terms of stellar mass (measured by $\rm{M}_{[3.6]}$), since both massive ($M_{\star} > 10^{11} M_{\odot}$) blue and red sequence galaxies are identified. The type that is proportionally more often found in the GGV are the S0-Sa's and most of these are located in high-density environments. We discuss evolutionary models of galaxies that show a rapid transition from the blue to the red sequence on timescale of $10^{8}$years.Comment: 7 pages, 4 figures, 1 table. Accepted for publication in ApJ

Halpha Kinematics of S4G Spiral Galaxies - III. Inner rotation curves

We present a detailed study of the shape of the innermost part of the rotation curves of a sample of 29 nearby spiral galaxies, based on high angular and spectral resolution kinematic Halpha Fabry-Perot observations. In particular, we quantify the steepness of the rotation curve by measuring its slope dRvc(0). We explore the relationship between the inner slope and several galaxy parameters, such as stellar mass, maximum rotational velocity, central surface brightness ({\mu}0), bar strength and bulge-to-total ratio. Even with our limited dynamical range, we find a trend for low-mass galaxies to exhibit shallower rotation curve inner slopes than high-mass galaxies, whereas steep inner slopes are found exclusively in high-mass galaxies. This trend may arise from the relationship between the total stellar mass and the mass of the bulge, which are correlated among them. We find a correlation between the inner slope of the rotation curve and the morphological T-type, complementary to the scaling relation between dRvc(0) and {\mu}0 previously reported in the literature. Although we find that the inner slope increases with the Fourier amplitude A2 and decreases with the bar torque Qb, this may arise from the presence of the bulge implicit in both A2 and Qb. As previously noted in the literature, the more compact the mass in the central parts of a galaxy (more concretely, the presence of a bulge), the steeper the inner slopes. We conclude that the baryonic matter dominates the dynamics in the central parts of our sample galaxies.Comment: 11 pages, 11 figures, accepted for publication in MNRA

Structural mechanism for regulation of the AAA-ATPases RUVBL1-RUVBL2 in the R2TP co-chaperone revealed by cryo-EM

The human R2TP complex (RUVBL1-RUVBL2-RPAP3-PIH1D1) is an HSP90 co-chaperone required for the maturation of several essential multiprotein complexes, including RNA polymerase II, small nucleolar ribonucleoproteins, and PIKK complexes such as mTORC1 and ATR-ATRIP. RUVBL1-RUVBL2 AAA-ATPases are also primary components of other essential complexes such as INO80 and Tip60 remodelers. Despite recent efforts, the molecular mechanisms regulating RUVBL1-RUVBL2 in these complexes remain elusive. Here, we report cryo-EM structures of R2TP and show how access to the nucleotide-binding site of RUVBL2 is coupled to binding of the client recruitment component of R2TP (PIH1D1) to its DII domain. This interaction induces conformational rearrangements that lead to the destabilization of an N-terminal segment of RUVBL2 that acts as a gatekeeper to nucleotide exchange. This mechanism couples protein-induced motions of the DII domains with accessibility of the nucleotide-binding site in RUVBL1-RUVBL2, and it is likely a general mechanism shared with other RUVBL1-RUVBL2-containing complexes