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A variant of mitochondrial protein LOC387715/ ARMS2, not HTRA1, is strongly associated
 

Summary: A variant of mitochondrial protein LOC387715/
ARMS2, not HTRA1, is strongly associated
with age-related macular degeneration
Atsuhiro Kanda*, Wei Chen
, Mohammad Othman*, Kari E. H. Branham*, Matthew Brooks*, Ritu Khanna*,
Shirley He*, Robert Lyons
, Gonc¸alo R. Abecasis§
, and Anand Swaroop*§¶
Departments of *Ophthalmology and Visual Sciences, Biological Chemistry, Biostatistics, and ¶Human Genetics, University of Michigan,
Ann Arbor, MI 48105
Edited by Jonathan G. Seidman, Harvard Medical School, Boston, MA, and approved August 7, 2007 (received for review April 30, 2007)
Genetic variants at chromosomes 1q31-32 and 10q26 are strongly
associated with susceptibility to age-related macular degeneration
(AMD), a common blinding disease of the elderly. We demonstrate,
by evaluating 45 tag SNPs spanning HTRA1, PLEKHA1, and pre-
dicted gene LOC387715/ARMS2, that rs10490924 SNP alone, or a
variant in strong linkage disequilibrium, can explain the bulk of
association between the 10q26 chromosomal region and AMD. A
previously suggested causal SNP, rs11200638, and other examined
SNPs in the region are only indirectly associated with the disease.

  

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

 

Collections: Biology and Medicine; Mathematics