Journal article
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
John H Fingert, Alan L Robin, Jennifer L Stone, Ben R Roos, Lea K Davis, Todd E Scheetz, Steve R Bennett, Thomas H Wassink, Young H Kwon, Wallace LM Alward, Robert F Mullins, Val C Sheffield, Edwin M Stone
HUMAN MOLECULAR GENETICS | OXFORD UNIV PRESS | Published : 2011
DOI: 10.1093/hmg/ddr123
Abstract
We report identification of a novel genetic locus (GLC1P) for normal tension glaucoma (NTG) on chromosome 12q14 using linkage studies of an African-American pedigree (maximum non-parametric linkage score = 19.7, max LOD score = 2.7). Subsequent comparative genomic hybridization and quantitative polymerase chain reaction (PCR) experiments identified a 780 kbp duplication within the GLC1P locus that is co-inherited with NTG in the pedigree. Real-time PCR studies showed that the genes within this duplication [TBK1 (TANK-binding kinase 1), XPOT, RASSF3 and GNS] are all expressed in the human retina. Cohorts of 478 glaucoma patients (including 152 NTG patients), 100 normal control subjects and 40..
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Awarded by National Institutes of Health
Awarded by NATIONAL EYE INSTITUTE
Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
Funding Acknowledgements
This work was supported by Research to Prevent Blindness, the Gustavus and Louise Pfeiffer Research Foundation, the Marlene S. and Leonard A. Hadley Glaucoma Research Fund and the National Institutes of Health (RO1EY018825 and K08 EY017698 to J.H.F. and R01EY010564 to V.C.S.).