Article
GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.
PloS one - 1 Jan 2011
Liu Yutao, Gibson Jason, Wheeler Joshua, Kwee Lydia Coulter, Santiago-Turla Cecile M, Akafo Stephen K, Lichter Paul R, Gaasterland Douglas E, Moroi Sayoko E, Challa Pratap, Herndon Leon W, Girkin Christopher A, Budenz Donald L, Richards Julia E, Allingham R Rand, Hauser Michael A
Abstract excerpt
DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studies have identified rare CNVs in POAG; however, their low frequencies prevented formal association testing. We present here the association between POAG risk and...
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