04387nas a2201021 4500008004100000022001400041245005800055210005700113260000900170300001100179490000600190520154700196653000901743653002201752653001501774653003101789653004001820653001101860653001701871653003401888653001301922653001101935653000901946653003101955653002101986653001602007653002002023653002002043100001702063700002302080700001802103700002502121700001602146700002202162700001402184700002602198700002102224700001902245700001802264700002402282700002202306700001902328700002202347700002002369700002702389700001902416700002602435700002802461700002302489700001902512700002402531700002202555700002302577700002202600700001602622700001902638700002002657700002702677700002002704700002202724700002102746700002402767700001202791700002302803700002202826700001702848700002002865700002002885700002402905700002502929700001402954700002002968700002102988700002703009700002103036700002303057700002203080700002203102700001903124700002403143700002803167700002403195700001903219700001803238710004503256710002803301856003603329 2013 eng d a1932-620300aGenetic loci for retinal arteriolar microcirculation.0 aGenetic loci for retinal arteriolar microcirculation c2013 ae658040 v83 a
Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a genome-wide association study in 18,722 unrelated individuals of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium and the Blue Mountain Eye Study, to identify genetic determinants associated with variations in retinal arteriolar caliber. Retinal vascular calibers were measured on digitized retinal photographs using a standardized protocol. One variant (rs2194025 on chromosome 5q14 near the myocyte enhancer factor 2C MEF2C gene) was associated with retinal arteriolar caliber in the meta-analysis of the discovery cohorts at genome-wide significance of P-value <5×10(-8). This variant was replicated in an additional 3,939 individuals of European ancestry from the Australian Twins Study and Multi-Ethnic Study of Atherosclerosis (rs2194025, P-value = 2.11×10(-12) in combined meta-analysis of discovery and replication cohorts). In independent studies of modest sample sizes, no significant association was found between this variant and clinical outcomes including coronary artery disease, stroke, myocardial infarction or hypertension. In conclusion, we found one novel loci which underlie genetic variation in microvasculature which may be relevant to vascular disease. The relevance of these findings to clinical outcomes remains to be determined.
10aAged10aAged, 80 and over10aArterioles10aChromosomes, Human, Pair 510aEuropean Continental Ancestry Group10aFemale10aGenetic Loci10aGenome-Wide Association Study10aGenotype10aHumans10aMale10aMEF2 Transcription Factors10aMicrocirculation10aMiddle Aged10aModels, Genetic10aRetinal Vessels1 aSim, Xueling1 aJensen, Richard, A1 aIkram, Kamran1 aCotch, Mary, Frances1 aLi, Xiaohui1 aMacgregor, Stuart1 aXie, Jing1 aSmith, Albert, Vernon1 aBoerwinkle, Eric1 aMitchell, Paul1 aKlein, Ronald1 aKlein, Barbara, E K1 aGlazer, Nicole, L1 aLumley, Thomas1 aMcKnight, Barbara1 aPsaty, Bruce, M1 ade Jong, Paulus, T V M1 aHofman, Albert1 aRivadeneira, Fernando1 aUitterlinden, André, G1 aDuijn, Cornelia, M1 aAspelund, Thor1 aEiriksdottir, Gudny1 aHarris, Tamara, B1 aJonasson, Fridbert1 aLauner, Lenore, J1 aAttia, John1 aBaird, Paul, N1 aHarrap, Stephen1 aHolliday, Elizabeth, G1 aInouye, Michael1 aRochtchina, Elena1 aScott, Rodney, J1 aViswanathan, Ananth1 aLi, Guo1 aSmith, Nicholas, L1 aWiggins, Kerri, L1 aKuo, Jane, Z1 aTaylor, Kent, D1 aHewitt, Alex, W1 aMartin, Nicholas, G1 aMontgomery, Grant, W1 aSun, Cong1 aYoung, Terri, L1 aMackey, David, A1 avan Zuydam, Natalie, R1 aDoney, Alex, S F1 aPalmer, Colin, N A1 aMorris, Andrew, D1 aRotter, Jerome, I1 aTai, Shyong, E1 aGudnason, Vilmundur1 aVingerling, Johannes, R1 aSiscovick, David, S1 aWang, Jie, Jin1 aWong, Tien, Y1 aWellcome Trust Case Control Consortium 21 aGlobal BPgen Consortium uhttps://chs-nhlbi.org/node/6027