A multicenter study to map genes for Fuchs endothelial corneal dystrophy: Baseline characteristics and heritability

Cornea

Volumn 31, Issue 1, 2012, Pages 26-35

  Louttit, Megan D ^a   Kopplin, Laura J ^a   Igo, Robert P ^a   Fondran, Jeremy R ^a   Tagliaferri, Angela ^a   Bardenstein, David ^a   Aldave, Anthony J ^b   Croasdale, Christopher R ^c   Price, Marianne O ^d   Rosenwasser, George O ^e   Lass, Jonathan ^h   Iyengar, Sudha K ^a   Price, Francis W ^d   Kelly, Kathleen ^d   Hamilton, Stephen ^f   Lee, Barry ^f   Patel, Sanjay ^g   Baratz, Keith H ^g   Bourne, William ^g   Maguire, Leo ^g   Reinhart, William ^h   Rosenwasser, George ^e   Verdier, David D ⁱ   Mootha, Vinod ^j   Bowman, Wayne ^j   Cavanagh, H Dwight ^j   McCulley, James P ^j   Verity, Steven ^j   Sugar, Joel ^k   Tu, Elmer ^k   Oliva, Matthew S ^l,ae   Rotkis, Walter M ^l   Yee, Richard ^m   Vital, Mark ^m   Caudill, James W ⁿ   Hammersmith, Kristin ^o   Ayres, Brandon ^o   Cohen, Elizabeth ^o   Laibson, Peter ^o   Rapuano, Christopher ^o   Colby, Kathryn ^p   Jurkunas, Ula ^p   Dunn, Steven P ^q   Heidemann, David G ^q   Sugar, Alan ^r   Mian, Shahzad ^r   Soong, H Kaz ^r   Alfonso, Eduardo ^s   Karp, Carol ^s   Lee, Yunhee ^s   Yoo, Sonia ^s   Gorovoy, Mark ^t   Rosenfeld, Steven I ^u   Brown, Marlene ^v   Davis, Elizabeth A ^v   Fahmy, Ahmad ^v   Hardten, David R ^v   Hauswirth, Scott ^v   Lindstrom, Richard L ^v   Mifflin, Mark D ^w   Olson, Randall ^w   Belin, Michael W ^ac,af   Dupps, B J ^y   Meisler, David M ^y   Suedekum, Brandon ^z   Shamie, Neda ^aa   Terry, Mark A ^aa   Shah, Samir ^ab   Morason, Todd ^ac   Schultze, Robert L ^ac   Galentine, Paul G ^ad   more..

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JULES STEIN EYE INSTITUTE   (United States)

^c Davis Duehr Dean Clinic   (United States)

^d PRICE VISION GROUP   (United States)

^e Central Pennsylvania Eye Institute   (United States)

^f Eye Consultants of Atlanta   (United States)

^g MAYO CLINIC   (United States)

^h UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

ⁱ Verdier Eye Center   (United States)

^j UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^k UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^l Neuro ophthalmic Consultants Northwest   (United States)

^m UNIVERSITY OF TEXAS   (United States)

ⁿ PLLC   (United States)

^o THOMAS JEFFERSON UNIVERSITY   (United States)

^p HARVARD MEDICAL SCHOOL   (United States)

^q Michigan Cornea Consultants   (United States)

^r UNIVERSITY OF MICHIGAN   (United States)

^s UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^t Gorovoy Eye Specialists   (United States)

^u Delray Eye Associ PA   (United States)

^v MINNESOTA EYE CONSULTANTS   (United States)

^w UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^x UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^y LERNER RESEARCH INSTITUTE   (United States)

^z Cleveland Clinic Foundation ^*  (United States)

^aa DEVERS EYE INSTITUTE   (United States)

^ab HENRY FORD HOSPITAL   (United States)

^ac Henry Ford Medical Center ^*  (United States)

^ad Horizon Eye Care   (United States)

^ae Medical Eye Center   (United States)

^af UNIVERSITY OF ARIZONA   (United States)

more..

Author keywords

Corneal thickness; Fuchs dystrophy; Genetics; Heritability

Indexed keywords

AGED; ARTICLE; CASE CONTROL STUDY; CHROMOSOME MAP; CLINICAL TRIAL; COHORT ANALYSIS; CONGENITAL CORNEA DYSTROPHY; CORNEA; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; MALE; MIDDLE AGED; MULTICENTER STUDY; PATHOLOGY; PHENOTYPE;

AGED; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; COHORT STUDIES; CORNEA; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE;

EID: 84856494249     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0b013e31821c9b8f     Document Type: Article

References (38)

1. Krachmer JH, Purcell JJ Jr, Young CW, et al. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol. 1978;96:2036-2039.
2. Eye Bank Association of America. Statistical Report. Washington, DC: Eye Bank Association of America; 2009.
3. Bergmanson JP, Sheldon TM, Goosey JD. Fuchs' endothelial dystrophy: a fresh look at an aging disease. Ophthalmic Physiol Opt. 1999;19:210-222.
4. Gottsch JD, Sundin OH, Rencs EV, et al. Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography. Cornea. 2006;25:485-489.
5. Wilson SE, Bourne WM. Fuchs' dystrophy. Cornea. 1988;7:2-18.
6. Zoega GM, Fujisawa A, Sasaki H, et al. Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study. Ophthalmology. 2006;113:565-569.
7. Kitagawa K, Kojima M, Sasaki H, et al. Prevalence of primary cornea guttata and morphology of corneal endothelium in aging Japanese and Singaporean subjects. Ophthalmic Res. 2002;34:135-138.
8. Sundin OH, Jun. AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145.
9. Riazuddin SA, Eghrari AO, Al-Saif A, et al. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci. 2009;50:5667-5771.
10. Afshari NA, Li YJ, Pericak-Vance MA, et al. Genome-wide linkage scan in Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2009;50:1093-1097.
11. Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
12. Gottsch JD, Zhang C, Sundin OH, et al. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci. 2005;46:4504-4511.
13. Kobayashi A, Fujiki K, Murakami A, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004;48:195-198.
14. Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17:656-666.
15. Riazuddin SA, Zaghloul NA, Al-Saif A, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010;86:45-53.
16. Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363:1016-1024.
17. Cornea Donor Study Investigator Group. The effect of donor age on corneal transplantation outcome results of the cornea donor study. Ophthalmology. 2008;115:620-626.
18. McGlumphy EJ, Yeo WS, Riazuddin SA, et al. Age-severity relationships in families linked to FCD2 with retroillumination photography. Invest Ophthalmol Vis Sci. 2010;51:6298-6302.
19. S. A. G. E. Statistical Analysis for Genetic Epidemiology, version 6.0.1. 2009. Available at: http://darwin. cwru.edu/sage/.
20. Keen KJ, Elston RC. Robust asymptotic sampling theory for correlations in pedigrees. Stat Med. 2003;22:3229-3247.
21. Ott J. Analysis of Human Genetic Linkage. Baltimore, MD: Johns Hopkins University Press; 1999.
22. Gutti V, Bardenstein D, Iyengar SK, et al. Fuchs' endothelial corneal dystrophy. In: Levin L, Albert D, eds. Ocular Disease: Mechanisms and Management. New York, NY: Elsevier Inc; 2010, pp 34-41.
23. Meadows DN, Eghrari AO, Riazuddin SA, et al. Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus. Invest Ophthalmol Vis Sci. 2009;50:5662-5666.
24. Zheng Y, Ge J, Huang G, et al. Heritability of central corneal thickness in Chinese: the Guangzhou Twin Eye Study. Invest Ophthalmol Vis Sci. 2008;49:4303-4307.
25. Toh T, Liew SHM, MacKinnon JR, et al. Central corneal thickness is highly heritable: the Twin Eye Studies. Invest Ophthalmol Vis Sci. 2005;46:3718-3722.
26. Landers JA, Hewitt AW, Dimasi DP, et al. Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci. 2010;50:4087-4090.
27. Charlesworth J, Kramer P, Samples JR, et al. The path to open angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio and central corneal thickness. Invest Ophthalmol Vis Sci. 2010;51:3509-3514.
28. Alsbirk PH. Corneal thickness. II. Environmental and genetic factors. Acta Ophthalmol. 1978;56:105-113.
29. Kavvoura FK, Ioannidis JPA. Methods for meta-analysis in genetic association studies: a review of their potential and pitfalls. Hum Genet. 2008;123:1-14.
30. Sanfilippo PG, Hewitt AW, Hammond CJ, et al. The heritability of ocular traits. Surv Ophthalmol. 2010;55:561-583.
31. Nishida T. Cornea. In: Krachmer JH, Mannis MJ, Holland EJ, eds. Cornea. Vol 1. Philadelphia, PA: Elsevier Health Sciences; 2005:3-26.
32. Burns RR, Bourne WM, Brubaker RF. Endothelial function in patients with cornea guttata. Invest Ophthalmol Vis Sci. 1981;20:77-85.
33. Wilson SE, Bourne WM, O'Brien PC, et al. Endothelial function and aqueous humor flow rate in patients with Fuchs' dystrophy. Am J Ophthalmol. 1988;106:270-278.
34. Haseman J, Elston R. The investigation of linkage between a quantitative trait and a marker locus. Behav Genet. 1972;2:3-19.
35. Chen M-H, Yang Q. GWAF: an R package for genome-wide association analyses with family data. Bioinformatics. 2010;26:580-581.
36. Schnitzer JI, Krachmer, Jay H. A specular microscopic study of families with endothelial dystrophy. Br J Ophthalmol. 1981;65:396-400.
37. Yuen HK, Rassier CE, Jardeleza MS, et al. A morphologic study of Fuchs dystrophy and bullous keratopathy. Cornea. 2005;24:319-327.
38. Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.