Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an indian population

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 10, 2010, Pages 4937-4941

  Rao, Kollu N ^a   Kaur, Inderjeet ^a   Parikh, Rajul S ^b   Mandal, Anil K ^b   Chandrasekhar, Garudadri ^b   Thomas, Ravi ^b,c,d   Chakrabarti, Subhabrata ^a  

^a Hyderabad Eye Research Foundation   (India)

^b L V PRASAD EYE INSTITUTE   (India)

^c QUEENSLAND EYE INSTITUTE   (Australia)

^d UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CLOSED ANGLE GLAUCOMA; COHORT ANALYSIS; CONTROLLED STUDY; CUP DISC RATIO; DNA FLANKING REGION; FEMALE; GENE; GENE SEQUENCE; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INDIAN; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; NEUROTROPHIN 4 GENE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VAV2 GENE; VAV3 GENE; VISUAL FIELD DEFECT; VISUAL SYSTEM PARAMETERS; ASIAN; GENE FREQUENCY; GENETICS; HAPLOTYPE; INDIA; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE;

NERVE GROWTH FACTOR; NEUROTROPHIN 4; PRIMER DNA; VAV PROTEIN; VAV2 PROTEIN, HUMAN; VAV3 PROTEIN, HUMAN;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENE FREQUENCY; GLAUCOMA, ANGLE-CLOSURE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; INDIA; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MUTATION; NERVE GROWTH FACTORS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-VAV;

EID: 77958149448     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5553     Document Type: Article

References (21)

1. Wiggs JL. Genetic etiologies of glaucoma. Arch Ophthalmol. 2007; 125:30-37.
2. Resnikoff S, Pascoloni D, Etya'ale D, et al. Global data on visual impairment in the year 2002. Bull World Health Org. 2004;82: 844-851.
3. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
4. Kwon YH, Fingert JH, Kuehn MH, Alward WL. Primary open-angle glaucoma. N Engl J Med. 2009;360:1113-1124.
5. Libby RT, Gould DB, Anderson MG, John SW. Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet. 2005; 6:15-44.
6. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
7. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open angle glaucoma caused by mutations in optineurin. Science. 2002; 295:1077-1079.
8. 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.
9. Pasutto F, Matsumoto T, Mardin CY, et al. Heterozygous NTF4 mutations impairing neutrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet. 2009;85:447-456.
10. Liu Y, Liu W, Crooks K, Schmidt S, Allingham RR, Hauser MA. No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am J Hum Genet. 2010; 86:498-499.
11. Fujikawa K, Iwata T, Inoue K, et al. VAV2 and VAV3 as candidate disease genes for spontaneous glaucoma in mice and humans. PLoS ONE. 2010;5:e9050.
12. Chakrabarti S, Devi KR, Komatireddy S, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-5444.
13. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
14. Hodapp E, Parrish IIRK, Anderson DR. Clinical Decisions in Glaucoma. St. Louis: The CV Mosby; 1993:84-126.
15. Fan BJ, Wang DY, Lam DSC, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006;39:249-258.
16. Chanock SJ, Manolio T, et al. and the NCI-NHGRI Working Group on Replication in Association Studies. Replicating genotype-phenotype associations. Nature. 2007;447:655-660.
17. Rao KN, Kaur I, Chakrabarti S. Lack of association of three POAG susceptible loci with primary glaucomas in an Indian population. Proc Natl Acad Sci USA. 2009;106:E125-E126.
18. Hewitt AW, Mackey DA, Craig JE. Myocilin allele-specific glaucoma phenotype database. Hum Mutat. 2008;29:207-211.
19. Ayala-Lugo RM, Pawar H, Reed DM, et al. Variation in optineurin (OPTN) allele frequencies between and within populations. Mol Vis. 2007;13:151-163.
20. Pasutto F, Mardin CY, Michels-Rautenstrauss K, et al. Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci. 2008;49:270-274.
21. Pasutto F, Chavarria-Soley G, Mardin CY, et al. Heterozygous lossof- function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010;51:249-254.