title: Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an indian population.
abstract: OBJECTIVE
  Recently, the neurotrophin-4 (NTF4), VAV2 and VAV3 genes have been implicated in primary open-angle glaucoma (POAG) in the European and Japanese populations, respectively. This study was conducted to determine their involvement in an Indian population with POAG and primary angle-closure glaucoma (PACG).
  
  
  METHODS
  The entire NTF4 gene and the POAG-associated SNPs rs2156323 (VAV2) and rs2801219 (VAV3) and their flanking regions were screened by resequencing in a clinically well-characterized cohort of 537 subjects that included cases of POAG (n = 141), PACG (n = 111), and ethnically matched normal controls (n = 285). The data were analyzed by using appropriate statistical software.
  
  
  RESULTS
  Resequencing of NTF4 revealed a nonsynonymous (A88V), silent (P151P) and two changes in the 3'UTR region, along with a known polymorphism (rs11669977) in cases of POAG; the PACG cases exhibited only the A88V variation. Of interest, the A88V mutation observed in Europeans was more prevalent in our normal control subjects (4.91%, 95% CI, 2.95-8.07) than in the POAG (2.14%, 95% CI, 0.73-6.11; P = 0.200) and PACG (2.85%, 95% CI, 0.97-8.06; P = 0.577) cases. There were no major differences in the presenting intraocular pressure, cup-to-disc ratio, and visual field defects among patients harboring the A88V variation. The other variations in NTF4 were not associated with the cases. The risk alleles of rs2156323 and rs2801219 in the Japanese were not associated with POAG (P = 0.533 and 0.133, respectively) and PACG (P = 0.223 and 0.394, respectively) in the Indian cohort.
  
  
  CONCLUSIONS
  The present data indicate a lack of involvement of variations in NTF4, VAV2, and VAV3 with glaucoma pathogenesis in an Indian population.
authors.affiliation: Hyderabad Eye Research Foundation, Brien Holden Eye Research Centre, L. V. Prasad Eye Institute, Hyderabad, India.
authors.forename: Kollu N
authors.initials: KN
authors.lastname: Rao
authors.forename: Inderjeet
authors.initials: I
authors.lastname: Kaur
authors.forename: Rajul S
authors.initials: RS
authors.lastname: Parikh
authors.forename: Anil K
authors.initials: AK
authors.lastname: Mandal
authors.forename: Garudadri
authors.initials: G
authors.lastname: Chandrasekhar
authors.forename: Ravi
authors.initials: R
authors.lastname: Thomas
authors.forename: Subhabrata
authors.initials: S
authors.lastname: Chakrabarti
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D015812:Glaucoma, Angle-Closure / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009414:Nerve Growth Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D051567:Proto-Oncogene Proteins c-vav / Q000235:genetics*
chemical_list: D017931:DNA Primers; D009414:Nerve Growth Factors; D051567:Proto-Oncogene Proteins c-vav; C093651:VAV2 protein, human; C496621:VAV3 protein, human; C073922:neurotrophin 4