Abstract
Purpose: :
It was recently reported that genetic variants in neurotrophin-4 (NTF4) were associated with primary-open angle glaucoma in a European Caucasian population (Pasutto et al., 2009). We attempted to replicate this finding in a Caucasian population from the Southeastern US.
Methods: :
We sequenced the NTF4 coding region in 443 unrelated POAG cases and 533 controls. All amplicons were sequenced both in the forward and reverse directions, and sequences were examined independently by at least two observers. All variants were confirmed in a second round of amplification and sequencing.
Results: :
A total of nine different non-synonymous coding changes in the NTF4 gene were found. Variants were identified in five cases and 12 controls. All variants were heterozygous, and no individual had more than one variant. There were no significant differences between cases and controls in the frequencies of coding changes.
Conclusions: :
Our data indicate that non-synonymous coding changes in NTF4 are not associated with POAG in this Caucasian population. The difference between our findings and the reported association in the European Caucasian population may have arisen though a number of factors, including recent evolutionary history, discrepancies in POAG subtype, and the age of the individuals under study, but we conclude that NTF4 genetic variants are not major causal factors of POAG in this dataset.
Keywords: genetics • growth factors/growth factor receptors