@article{0fe3b946375948769f1d6a67704105cc,
title = "Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration",
abstract = "Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies, triggered by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously over a chromosomal region in 10q26 harboring two genes, ARMS2 and HTRA1, although with little knowledge as to which gene or genetic variation is functionally relevant to AMD pathology. In this study, we analyzed rare recombinant haplotypes in 16,144 AMD cases and 17,832 controls from the International AMD Genomics Consortium and identified variants in ARMS2 but not HTRA1 to exclusively carry the AMD risk with P-values between 10 × 10-773 and 6.7 × 10-5. This now allows prioritization of the gene of interest for subsequent functional studies.",
keywords = "ARMS2/HTRA1 gene locus, Age-related macular degeneration, Genetic association studies, Haplotypes, Linkage disequilibrium",
author = "{International AMD Genomics Consortium (IAMDGC)} and Felix Grassmann and Heid, {Iris M.} and Weber, {Bernhard H.F.} and Fritsche, {L. G.} and W. Igl and Bailey, {J. N.} and F. Grassmann and S. Sengupta and Bragg-Gresham, {J. L.} and Burdon, {K. P.} and Hebbring, {S. J.} and C. Wen and M. Gorski and Kim, {I. K.} and D. Cho and D. Zack and E. Souied and Scholl, {H. P.} and E. Bala and Lee, {K. E.} and Hunter, {D. J.} and Sardell, {R. J.} and P. Mitchell and Merriam, {J. E.} and V. Cipriani and Hoffman, {J. D.} and T. Schick and Lechanteur, {Y. T.} and Guymer, {R. H.} and Johnson, {M. P.} and Y. Jiang and Stanton, {C. M.} and Buitendijk, {G. H.} and X. Zhan and Kwong, {A. M.} and A. Boleda and M. Brooks and L. Gieser and R. Ratnapriya and Branham, {K. E.} and Foerster, {J. R.} and Heckenlively, {J. R.} and Othman, {M. I.} and Vote, {B. J.} and Liang, {H. H.} and E. Souzeau and McAllister, {I. L.} and T. Isaacs and J. Hall and Smith, {R. T.}",
note = "Publisher Copyright: {\textcopyright} 2017 Grassmann et al.",
year = "2017",
month = feb,
doi = "10.1534/genetics.116.195966",
language = "English",
volume = "205",
pages = "919--924",
journal = "Genetics",
issn = "0016-6731",
publisher = "Genetics Society of America",
number = "2",
}