Journal Title
Title of Journal: Hum Genet
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Abbravation: Human Genetics
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Publisher
Springer Berlin Heidelberg
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Authors: Jessica N Cooke Bailey Brian L Yaspan Louis R Pasquale Michael A Hauser Jae H Kang Stephanie J Loomis Murray Brilliant Donald L Budenz William G Christen John Fingert Douglas Gaasterland Terry Gaasterland Peter Kraft Richard K Lee Paul R Lichter Yutao Liu Catherine A McCarty Sayoko E Moroi Julia E Richards Tony Realini Joel S Schuman William K Scott Kuldev Singh Arthur J Sit Douglas Vollrath Gadi Wollstein Donald J Zack Kang Zhang Margaret A PericakVance R Rand Allingham Robert N Weinreb Jonathan L Haines Janey L Wiggs
Publish Date: 2014/07/19
Volume: 133, Issue: 10, Pages: 1319-1330
Abstract
Primary openangle glaucoma POAG is a leading cause of blindness worldwide Using genomewide association singlenucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration comprising 3108 cases and 3430 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 0001 In addition the human leukocyte antigen HLA gene family was significantly associated with POAG p 0001 In the POAG subset with normalpressure glaucoma NPG the butanoate metabolism pathway was also significantly associated p 0001 as well as the MAPK and Hedgehog signaling pathways hsa04010 and hsa04340 glycosaminoglycan biosynthesisheparan sulfate pathway hsa00534 and the phenylalanine tyrosine and tryptophan biosynthesis pathway hsa0400 The butanoate metabolism pathway overall and specifically the aspects of the pathway that contribute to GABA and acetylCoA metabolism was the only pathway significantly associated with both POAG and NPG Collectively these results implicate GABA and acetylCoA metabolism in glaucoma pathogenesis and suggest new potential therapeutic targetsThe Harvard Glaucoma Center of Excellence and Margolis fund Boston MA support LRP and JLW LRP JER and JLW are also supported by Research to Prevent Blindness Inc New York NY The Arthur Ashley Foundation also supports Dr Pasquale The Glaucoma Research Foundation San Francisco CA American Health Assistance Foundation Clarksburg MD and the Glaucoma Foundation New York NY support YL The following National Institutes of Health Grants support the maintenance of the Nurses Health Study and Health Professionals Followup allowing these health professionals to contribute to this analysis CA87969 CA49449 UM1 CA167552 and HL35464 The following Grants from the National Human Genome Research Institute Bethesda MD supported GLAUGEN HG004728 LRP HG004424 Broad Institute to support genotyping HG004446 C Laurie U Washington to support genotype data cleaning and analysis Genotyping services for the NEIGHBOR study were provided by the Center for Inherited Disease Research CIDR and were supported by the National Eye Institute through Grant HG00525901 JLW In addition CIDR is funded through a federal contract from the National Institutes of Health to The Johns Hopkins University contract number HHSN268200782096C The National Eye Institute Bethesda MD through ARRA Grants EY015872 JLW and EY019126 MAH supported the collection and processing of samples for the NEIGHBOR dataset Funding for the collection of cases and controls was provided by National Institutes of Health Bethesda MD Grants EY015543 RRA EY006827 DG HL073389 Hauser E EY13315 MAH EY09611 Hankinson S EY015473 LRP EY009149 PRL HG004608 CAM EY008208 Medeiros P EY015473 LRP EY012118 MAPV EY015682 TR EY011671 JER EY09580 JER EY013178 JSS EY015872 JLW EY010886 JLW EY009847 JLW EY011008 Zangwill L EY144428 KZ EY144448 KZ EY18660 KZ None of the authors have any commercial interests in the subject of the manuscript or in entities discussed in the manuscript BL Yaspan and JN Cooke Bailey were supported in part by NIH Grant T32EY021453
Keywords:
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