STUDY TITLE: Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases
SUMMARY: Identification of 203 generic variants associated with corneal hysteresis, a measure of the “shock-absorbing” ability of the cornea.
OVERVIEW: The cornea is a dome-shaped “window” covering the front part of the eye. It serves to both protect the eye and focus light to help us see. Damage to the cornea can be detrimental to eyesight, so doctors commonly use a number of metrics to measure the cornea’s health. One metric is corneal hysteresis, which is a measure of the “shock-absorbing” ability of the cornea. Decreased corneal hysteresis has previously been connected to glaucoma and other disorders of the eye. This genome-wide association study of over 100,000 individuals of European ancestry sought to identify variants associated with corneal hysteresis. The study found 203 genetic variants nearly all of which are newly-discovered. Some of the identified variants are near genes that play a role in the production of collagen, a substance that provides structure to the eyes and many other tissues in the body.
DID YOU KNOW? Corneal transplants are the most common type of transplant surgeries, with nearly 50,000 performed each year. [SOURCE]
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HYSTERESIS-ASSOCIATED VARIANTS: rs1044864, rs142493024, rs28526212, rs7635832, rs34944131, rs11659764, rs2755238, rs77542162, rs150202082, rs27323, rs121908120, rs72755233, rs1200105, rs139498917, rs12493217, rs6792542, rs72620820, rs6415788, rs238237, rs8070232, rs7019538, rs7863424, rs2645773, rs56009602, rs12913547, rs11786592, rs12476069, rs2393728, rs9853115, rs62014490, rs7518099, rs2879813, rs1042917, rs4656744, rs17512836, rs55923934, rs2745951, rs10817467, rs9038, rs2980046, rs11917483, rs11712833, rs7025044, rs13108668, rs11594610, rs717605, rs34552401, rs256869, rs13167730, rs1344672, rs4641686, rs187977459, rs1746486, rs2875238, rs9510275, rs2109019, rs12939159, rs17665178, rs11077857, rs11869086, rs8079290, rs10742752, rs12594979, rs28667150, rs786914, rs66560819, rs4363451, rs3118519, rs7952095, rs6816503, rs4008768, rs10788639, rs2468506, rs34372952, rs6567331, rs7919525, rs12498681, rs4561781, rs10139614, rs12526513, rs11142375, rs663044, rs2950790, rs7585194, rs6874844, rs6137178, rs1544557, rs34869, rs11923081, rs144596877, rs7651617, rs60581858, rs4643535, rs61814077, rs144403225, rs11156962, rs78036526, rs1755056, rs12193050, rs4938174, rs4374230, rs6709656, rs1772570, rs141621919, rs7301793, rs2035835, rs56042419, rs2286936, rs3890958, rs12760453, rs72828345, rs75529319, rs78625510, rs10838709, rs116072427, rs4948546, rs10151339, rs236940, rs58671886, rs12196123, rs1360485, rs851615, rs10758441, rs4848406, rs573455, rs3782473, rs1573019, rs3004212, rs3819504, rs712097, rs1931656, rs3904683, rs10233003, rs11126989, rs9747201, rs6072289, rs11974887, rs6456173, rs7084736, rs1366689, rs77583146, rs9364323, rs11024110, rs13089362, rs869219, rs56921221, rs2910770, rs4889619, rs2605134, rs226456, rs7904473, rs987237, rs78253835, rs62475463, rs2014377, rs67239293, rs11743712, rs75327292, rs7624274, rs149879035, rs6557679, rs7443175, rs16893327, rs764567, rs11245342, rs6527987, rs388738, rs8074740, rs16843274, rs7613548, rs1905339, rs35973557, rs1888344, rs249768, rs35624781, rs1952491, rs11882077, rs7973611, rs73080552, rs448265, rs1776953, rs4537621, rs13138854, rs11645503, rs77016659, rs74454622, rs10510110, rs79177013, rs2246912, rs715299, rs6971448, rs12483377, rs7593009, rs7586187, rs12448432, rs6437582, rs2301742, rs185413393, rs998335, rs145217118, rs140869992, rs2237421, rs4834706
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WEEKLY UPDATE: August 27, 2020