Home

About

Advanced Search

Browse by Discipline

Scientific Societies

E-print Alerts

Add E-prints

E-print Network
FAQHELPSITE MAPCONTACT US


  Advanced Search  

 
Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1
 

Summary: Age-related macular degeneration-associated variants at
chromosome 10q26 do not significantly alter ARMS2 and HTRA1
transcript levels in the human retina
Atsuhiro Kanda,1
Dwight Stambolian,2
Wei Chen,3
Christine A. Curcio,4
Gonçalo R. Abecasis,3
Anand Swaroop1
1Neurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, National Institutes of Health, Bethesda,
MD; 2Department of Ophthalmology and Human Genetics, University of Pennsylvania, Philadelphia, PA; 3Center for Statistical
Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI; 4Department of Ophthalmology, University of
Alabama at Birmingham, Birmingham, AL
Purpose: Multiple studies demonstrate a strong association between three variants at chromosome 10q26 ­
rs10490924, del443ins54, and rs11200638 ­ near the age-related maculopathy susceptibility 2 (ARMS2) and high-
temperature requirement factor A1 (HTRA1) genes with susceptibility to age-related macular degeneration (AMD). In
different reports, the del443ins54 and rs11200638 variants are suggested to affect ARMS2 mRNA stability and/or
HTRA1 mRNA expression, respectively. The goal of this study is to examine whether these AMD-associated variants
alter expression levels of ARMS2 and HTRA1 in human retina samples.
Methods: Genomic DNA and total RNA were obtained from 35 human retinas (three young controls, average age=32

  

Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan

 

Collections: Biology and Medicine; Mathematics