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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy


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Afshari, NA, Igo Jr, RP, Morris, NJ, Stambolian, D, Sharma, Shiwani, Pulagam, VL, Dunn, S, Stamler, JF, Truitt, BJ, Rimmler, J, Kuot, A, Croasdale, CR, Qin, X, Burdon, KP ORCID: 0000-0001-8217-1249, Riazuddin, SA, Mills, R, Klebe, S, Minear, MA, Zhao, J, Balajonda, E, Rosenwasser, GO, Baratz, KH, Mootha, VV, Patel, SV, Gregory, SG, Bailey-Wilson, JE, Price, MO, Price, FW, Craig, JE, Fingert, JH, Gottsch, JD, Aldave, AJ, Klintworth, GK, Lass, JH, Li, YJ and Iyengar, SK 2017 , 'Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy' , Nature Communications, vol. 8 , pp. 1-8 , doi: 10.1038/ncomms14898.

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The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P-8): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114. We also observe an overwhelming effect of the established TCF4 locus. Interestingly, we detect differential sex-specific association at LAMC1, with greater risk in women, and TCF4, with greater risk in men. Combining GWAS results with biological evidence we expand the knowledge of common FECD loci from one to four, and provide a deeper understanding of the underlying pathogenic basis of FECD.

Item Type: Article
Authors/Creators:Afshari, NA and Igo Jr, RP and Morris, NJ and Stambolian, D and Sharma, Shiwani and Pulagam, VL and Dunn, S and Stamler, JF and Truitt, BJ and Rimmler, J and Kuot, A and Croasdale, CR and Qin, X and Burdon, KP and Riazuddin, SA and Mills, R and Klebe, S and Minear, MA and Zhao, J and Balajonda, E and Rosenwasser, GO and Baratz, KH and Mootha, VV and Patel, SV and Gregory, SG and Bailey-Wilson, JE and Price, MO and Price, FW and Craig, JE and Fingert, JH and Gottsch, JD and Aldave, AJ and Klintworth, GK and Lass, JH and Li, YJ and Iyengar, SK
Journal or Publication Title: Nature Communications
Publisher: Nature Publishing Group
ISSN: 2041-1723
DOI / ID Number: 10.1038/ncomms14898
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Copyright The Author(s) 2017. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

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