Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 11, 2011, Pages 7859-7865

  Porter, Louise F ^a,b   Urquhart, Jill E ^c   O'Donoghue, Eamonn ^b   Fiona Spencer, A ^b   Wade, Emma M ^a   Manson, Forbes D C ^a   Black, Graeme C M ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ANKRD37 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; C4ORF47 GENE; CCDC110 GENE; CHROMOSOME 4Q; CONTROLLED STUDY; CYP4VS GENE; F11 GENE; FAM149A GENE; FAT1 GENE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC LINKAGE; GLC1Q GENE; HAPLOTYPE; HUMAN; KIAA1430 GENE; KLKB1 GENE; LINKAGE ANALYSIS; LRPB2BP GENE; MTNRIA GENE; MUTATIONAL ANALYSIS; MYOC GENE; OPEN ANGLE GLAUCOMA; PARAMETRIC TEST; PATHOGENESIS; PDLIM3 GENE; PHENOTYPE; PRIORITY JOURNAL; SLC25A4 GENE; SNX25 GENE; SORBS2 GENE; TLR3 GENE; UFSP2 GENE;

ADULT; AGED; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 4; CYSTEINE ENDOPEPTIDASES; CYTOCHROME P-450 ENZYME SYSTEM; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 80053629974     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6581     Document Type: Article

References (47)

1. Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma: a review. Exp Eye Res. 2009;88:837-844.
2. Quigley HA. Open angle glaucoma. N Engl J Med. 1993;328:1097-1106.
3. Hewitt AW, Craig JE, Mackey DA. Complex genetics of complex traits: the case of primary open-angle glaucoma. Clin Exp Ophthal-mol. 2006;34:472-484.
4. Kwon YH, Fingert JH, Kuehn MH, et al. Primary open-angle glaucoma. N Engl J Med. 2009;360:1113-1124.
5. Tielsch JM, Katz J, Sommer A, et al. Family history and risk of primary open angle glaucoma: the Baltimore Eye Survey. Arch Ophthalmol. 1994;112:69-73.
6. Bahrami H. Causal inference in primary open angle glaucoma: specific discussion on intraocular pressure. Ophthalmic Epidemiol. 2006;13:283-289.
7. Heijl A, Leske MC, Bengtsson B, et al. Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial. Arch Ophthalmol. 2002;120:1268-1279.
8. Kass MA, Heuer DK, Higginbotham EJ, et al. The Ocular Hypertension Treatment Study: a randomized trial determines that topical ocular hypotensive medication delays or prevents the onset of primary open-angle glaucoma. Arch Ophthalmol. 2002;120:701-713.
9. Gordon MO, Beiser JA, Brandt JD, et al. The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. Arch Ophthalmol. 2002;120:714-720.
10. Papadia M, Sofianos C, Iester M, et al. Corneal thickness and visual field damage in glaucoma patients. Eye. 2007;21:943-947.
11. Resnikoff S, Pascolini D, Etaya'ale D, et al. Global data on visual impairment in the year 2002. Bull World Health Organ. 2004;82: 844-851.
12. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996;80:389-393.
13. Rudnicka AR, Mt-Isa S, Owen C, et al. Variations in primary open-angle glaucoma prevalence by age, gender, and race: a Bayesian meta-analysis. Invest Ophthalmol Vis Sci. 2006;47:4254-4261.
14. Bunce C, Wormald R. Leading causes of certification for blindness and partial sight in England and Wales. BMC Public Health. 2006; 6:58.
15. National Institute for Health and Clinical Excellence. Glaucoma: diagnosis and management of chronic open angle glaucoma and ocular hypertension. NICE clinical guideline 85. London: National Collaborating Centre for Acute Care; April 2009.
16. Wolfs RC, Klaver CC, Ramrattan RS, et al. Genetic risk of primary open angle glaucoma: population-based familial aggregation study. Arch Ophthalmol. 1998;116:1640-1645.
17. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet. 1997;6:1667-1677.
18. Challa P. Glaucoma genetics. Int Ophthalmol Clin. 2008;48:73-94.
19. Fingert JH, Robin AL, Stone JL, et al. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet. 2011;20:2482-2494.
20. Monemi S, Spaeth G, DaSilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005;14:725-733.
21. Hauser MA, Allingham RR, Linkroum K, et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:2542-2546.
22. Fingert JH, Alward WL, Kwon YH, et al. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol. 2007;125:434-436.
23. Hewitt AW, Dimasi DP, Mackey DA, et al. A glaucoma case-control study of the WDR36 gene D658G sequence variant. Am J Ophthal-mol. 2006;142:324-325.
24. Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma: a review. Exp Eye Res. 2009;88:837-844.
25. Pasutto F, Matsumoto T, Mardin CY, et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet. 2009;85:447-456.
26. Vithana EN, Nongpiur ME, Venkataraman D, et al. Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population. Mol Vis. 2010; 16:1640-1645.
27. Liu Y, Liu W, Crooks K, et al. No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am J Hum Genet. 2010;86:498-499.
28. Rao KN, Kaur I, Parikh RS, et al. Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population. Invest Ophthal-mol Vis Sci. 2010;51:4937-4941.
29. Shimizu S, Lichter PR, Johnson AT, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 2000;130:165-177.
30. Alward WL, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-1197.
31. Cioffi GA, ed. Basic and Clinical Science Course (BCSC) 2009- 2010: Glaucoma Section 10. San Francisco: American Academy of Ophthalmology; 2009.
32. Abecasis GR, Cherny SS, Cookson WO, et al. Merlin rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30:97-101.
33. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996;58:1347-1363.
34. Lander E, Kruglyak L. Genetic dissection of complex traits: guideline for interpreting and reporting linkage results. Nat Genet. 1995;11:241-247.
35. Schuler GD, Boguski MS, Stewart E, et al. A gene map of the human genome. Science. 1996;274:540-546.
36. Broman KW, Murray JC, Sheffiled VC, et al. Comprehensive human genetic maps: individual and sex-specific variations in recombination. Am J Hum Genet. 1998:63;861-869.
37. Thiele H, Nürnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics. 2005;21:1730-1732.
38. Weber BH, Walker D, Müller B. Molecular evidence for non-penetrance in Best's disease. J Med Genet. 1994;31:388-392.
39. Solomon BD, Lacbawan F, Jain M, et al. A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A. 2009;149A:919-925.
40. Plancoulaine S, Alcaïs A, Chen Y, et al. Inclusion of unaffected sibs increases power in model-free linkage analysis of a behavioural trait. BMC Genet. 2005;6(suppl 1):S22.
41. Bisceglia L, De Bonis P, Pizzicoli C, et al. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive loci. Invest Ophthalmol Vis Sci. 2009;50:1081-1086.
42. Paterson AD, Liu XQ, Wang K, et al. Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. J Am Soc Nephrol. 2007;18:2408-2415.
43. Li A, Jiao X, Munier F, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004;74:817-826.
44. Nakano M, Kelly EJ, Rettie AE. Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase. Drug Metab Dispos. 2009;37:2119-2122.
45. Bence NF, Sampat AR, Jackbson N, et al. Impairment of the ubiq-uitin-proteosome system by protein aggregation. Science. 2001; 292:1552-1555.
46. Kang SH, Kim GR, Seong M, et al. Two novel ubiquitin-fold modifier (Ufm)-specific proteases, UfSP1 and UfSP2. J Biol Chem. 2007;23:282:5256-5262.
47. Benita Y, Kikuchi H, Smith AD, et al. An integrative approach identifies hypoxia inducible factor-1 (HIF-1) target genes that form the core response to hypoxia. Nucleic Acids Res. 2009;37:4587-4602.