Genetic screen of African Americans with Fuchs endothelial corneal dystrophy

Molecular Vision

Volumn 19, Issue , 2013, Pages 2508-2516

  Minear, Mollie A ^a   Li, Yi Ju ^a,b   Rimmler, Jacqueline ^a   Balajonda, Elmer ^b   Watson, Shera ^a   Rand Allingham, R ^b   Hauser, Michael A ^a   Klintworth, Gordon K ^b   Afshari, Natalie A ^c   Gregory, Simon G ^a  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; AFRICAN AMERICAN; AGED; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; COL8A2 GENE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SLC4A11 GENE; SLIT LAMP; VERY ELDERLY; ZEB1 GENE;

ADULT; AFRICAN AMERICANS; AGED; AGED, 80 AND OVER; ANION TRANSPORT PROTEINS; ANTIPORTERS; COLLAGEN TYPE VIII; CORNEA; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENE EXPRESSION; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; RISK; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84890275859     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Afshari NA, Pittard AB, Siddiqui A, Klintworth GK. Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience. Arch Ophthalmol 2006; 124:777-80. [PMID: 16769829].
2. Eghrari AO, Gottsch JD. Fuchs' corneal dystrophy. Expert Rev Ophthalmol 2010; 5:147-59. [PMID: 20625449].
3. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 1978; 96:2036-9. [PMID: 309758].
4. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' Dystrophy. Am J Ophthalmol 1980; 90:455-62. [PMID: 6968504].
5. Louttit MD, Kopplin LJ, Igo RP Jr, Fondran JR, Tagliaferri A, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser GO, Lass JH, Iyengar SK. A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability. Cornea 2012; 31:26-35. [PMID: 22045388].
6. Eghrari AO, McGlumphy EJ, Iliff BW, Wang J, Emmert D, Riazuddin SA, Katsanis N, Gottsch JD. Prevalence and Severity of Fuchs Corneal Dystrophy in Tangier Island. Am J Ophthalmol 2012; 153:1067-72. [PMID: 22321803].
7. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. 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; 10:2415-23. [PMID: 11689488].
8. Magovern M, Beauchamp GR, McTigue JW, Fine BS, Baumiller RC. Inheritance of Fuchs' combined dystrophy. Ophthalmology 1979; 86:1897-923. [PMID: 399801].
9. Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol 1971; 85:268-72. [PMID: 5313141].
10. Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 2006; 47:3787-90. [PMID: 16936088].
11. Gottsch JD, Sundin OH, Liu SH, Jun AS, Broman KW, Stark WJ, Vito EC, Narang AK, Thompson JM, Magovern M. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 2005; 46:1934-9. [PMID: 15914606].
12. Kobayashi A, Fujiki K, Murakami A, Kato T, Chen LZ, Onoe H, Nakayasu K, Sakurai M, Takahashi M, Sugiyama K, Kanai A. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol 2004; 48:195-8. [PMID: 15175909].
13. Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol 2007; 91:1717-8. [PMID: 18024822].
14. Mok JW, Kim HS, Joo CK. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye (Lond) 2009; 23:895-903. [PMID: 18464802].
15. Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. BMC Ophthalmol 2010; 10:3. [PMID: 20144242].
16. Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat 2010; 31:1261-8. [PMID: 20848555].
17. Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 2008; 17:656-66. [PMID: 18024964].
18. Mehta JS, Vithana EN, Tan DT, Yong VH, Yam GH, Law RW, Chong WG, Pang CP, Aung T. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 2008; 49:184-8. [PMID: 18172091].
19. Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N. 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. [PMID: 20036349].
20. Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, Schmedt T, Jurkunas U, Schleif R, Katsanis N, Gottsch JD. Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy. Am J Hum Genet 2012; 90:533-9. [PMID: 22341973].
21. Sundin OH, Jun AS, Broman KW, Liu SH, Sheehan SE, Vito EC, Stark WJ, Gottsch JD. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci 2006; 47:140-5. [PMID: 16384955].
22. Sundin OH, Broman KW, Chang HH, Vito EC, Stark WJ, Gottsch JD. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci 2006; 47:3919-26. [PMID: 16936105].
23. Riazuddin SA, Eghrari AO, Al-Saif A, Davey L, Meadows DN, Katsanis N, Gottsch JD. 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; 50:5667-71. [PMID: 19608540].
24. Afshari NA, Li YJ, Pericak-Vance MA, Gregory S, Klintworth GK. Genome-wide linkage scan in Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 2009; 50:1093-7. [PMID: 18502986].
25. Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W, Tran KD, Schmid-Kubista KE, Heckenlively JR, Swaroop A, Abecasis G, Bailey KR, Edwards AO. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 2010; 363:1016-24. [PMID: 20825314].
26. Kuot A, Hewitt AW, Griggs K, Klebe S, Mills R, Jhanji V, Craig JE, Sharma S, Burdon KP. Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. Eur J Hum Genet 2012; 20:632-8. [PMID: 22234156].
27. Li YJ, Minear MA, Rimmler J, Zhao B, Balajonda E, Hauser MA, Allingham RR, Eghrari AO, Riazuddin SA, Katsanis N, Gottsch JD, Gregory SG, Klintworth GK, Afshari NA. Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS ONE 2011; 6:e18044. [PMID: 21533127].
28. Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, Gottsch JD. Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Invest Ophthalmol Vis Sci 2011; 52:2825-9. [PMID: 21245398].
29. Thalamuthu A, Khor CC, Venkataraman D, Koh LW, Tan DT, Aung T, Mehta JS, Vithana EN. Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese. Invest Ophthalmol Vis Sci 2011; 52:5573-8. [PMID: 21659310].
30. Whitham LB. Clinical Contribution to the Etiology of Dystrophia Epithelialis Corneae. Trans Am Ophthalmol Soc 1924; 22:290-9. [PMID: 16692677].
31. Lorenzetti DW, Uotila MH, Parikh N, Kaufman HE. Central cornea guttata. Incidence in the general population. Am J Ophthalmol 1967; 64:1155-8. [PMID: 6072991].
32. Crooks KR, Allingham RR, Qin X, Liu Y, Gibson JR, Santiago-Turla C, Larocque-Abramson KR, Del Bono E, Challa P, Herndon LW, Akafo S, Wiggs JL, Schmidt S, Hauser MA. Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis. PLoS ONE 2011; 6:e21967. [PMID: 21765929].
33. Waring GO 3rd, Rodrigues MM, Laibson PR. Corneal dystrophies. II. Endothelial dystrophies. Surv Ophthalmol 1978; 23:147-68. [PMID: 310583].
34. Wilson SE, Bourne WM. Fuchs' dystrophy. Cornea 1988; 7:2-18. [PMID: 3280235].
35. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132:365-86. [PMID: 10547847].
36. Kent WJ. BLAT-the BLAST-like alignment tool. Genome Res 2002; 12:656-64. [PMID: 11932250].
37. Exome Variant Server. NHLBI GO Exome Sequencing Project (ESP). Available from: http://evs.gs.washington.edu/EVS/
38. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7:248-9. [PMID: 20354512].
39. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-81. [PMID: 19561590].
40. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MMA. "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007; 315:525-8. [PMID: 17185560].
41. Nackley AG, Shabalina SA, Tchivileva IE, Satterfield K, Korchynskyi O, Makarov SS, Maixner W, Diatchenko L. Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science 2006; 314:1930-3. [PMID: 17185601].
42. Nielsen KB, Sorensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet 2007; 80:416-32. [PMID: 17273963].
43. Winkler CA, Nelson GW, Smith MW. Admixture mapping comes of age. Annu Rev Genomics Hum Genet 2010; 11:65-89. [PMID: 20594047].
44. Buhrmann RR, Quigley HA, Barron Y, West SK, Oliva MS, Mmbaga BB. Prevalence of glaucoma in a rural East African population. Invest Ophthalmol Vis Sci 2000; 41:40-8. [PMID: 10634599].
45. Fansi AA, Papamatheakis DG, Harasymowycz PJ. Racial variability of glaucoma risk factors between African Caribbeans and Caucasians in a Canadian urban screening population. Can J Ophthalmol 2009; 44:576-81. [PMID: 19789595].
46. Klein BE, Klein R, Sponsel WE, Franke T, Cantor LB, Martone J, Menage MJ. Prevalence of glaucoma. The Beaver Dam Eye Study. Ophthalmology 1992; 99:1499-504. [PMID: 1454314].
47. Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA 1991; 266:369-74. [PMID: 2056646].