학술논문
Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
Document Type
article
Author
Bailey, JNC; Yaspan, BL; Pasquale, LR; Hauser, MA; Kang, JH; Loomis, SJ; Brilliant, M; Budenz, DL; Christen, WG; Fingert, J; Gaasterland, D; Gaasterland, T; Kraft, P; Lee, RK; Lichter, PR; Liu, Y; McCarty, CA; Moroi, SE; Richards, JE; Realini, T; Schuman, JS; Scott, WK; Singh, K; Sit, AJ; Vollrath, D; Wollstein, G; Zack, DJ; Zhang, K; Pericak-Vance, MA; Allingham, RR; Weinreb, RN; Haines, JL; Wiggs, JL
Source
Human Genetics. 133(10)
Subject
Language
Abstract
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration comprising 3,108 cases and 3,430 controls, we assessed biologic pathways as annotated in the KEGG database for association with risk of POAG. After correction for genic overlap among pathways, we found 4 pathways, butanoate metabolism (hsa00650), hematopoietic cell lineage (hsa04640), lysine degradation (hsa00310) and basal transcription factors (hsa03022) related to POAG with permuted p